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- *160760 - MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*160760</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/160760">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000092054;t=ENST00000355349" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4625" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=160760" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000092054;t=ENST00000355349" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000257,NM_001407004" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000257" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=160760" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01175&isoform_id=01175_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/MYH7" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/29468,29727,34644,179508,179510,188986,386970,386973,553597,601916,825694,1617111,4379031,12053672,48476973,62088996,81022912,83304912,85567024,85567608,115496169,119586555,119586556,119586557,124302198,148342499,148913204,148913206,148913208,148913210,148913212,157365208,157365210,157365212,157365214,157365216,157365218,201067589,433804160,433804162,433804164,433804166,433804168,433804170,433804172,433804174,433804176,433804178,433804180,433804182,433804184,433804186,433804188,433804190,433804192,433804194,433804196,433804198,433804200,433804202,433804204,433804206,433804208,433804210,433804212,433804214,433804216,433804218,433804220,433804222,433804224,433804226,433804228,433804230,433804232,433804234,433804236,433804238,433804240,433804242,433804244,433804246,433804248,433804250,433804252,433804254,433804256,433804258,433804260,433804262,433804264,433804266,433804268,433804270,433804272,433804274,433804276,433804278,433804280,433804282,433804284,433804286,433804288,433804290,433804292,433804294,433804296,433804298,433804300,433804302,433804304,433804306,433804308,528320471,528320473,528320475,528320477,528320479,528320481,528320483,528320485,528320487,528320489,528320491,528320493,528320495,528320497,528320499,528320501,528320503,528320505,528320507,528320509,528320511,1034702252,1034702254,1043113213,1043113215,1043113217,1043113221,1471157310,1471808153,1471844693,2244985439,2496538982" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P12883" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4625" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000092054;t=ENST00000355349" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH7" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=MYH7" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4625" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/MYH7" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4625" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4625" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr14&hgg_gene=ENST00000355349.4&hgg_start=23412740&hgg_end=23435660&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7577" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=160760[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=160760[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/MYH7/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000092054" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=MYH7" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=MYH7" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MYH7" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://genepath.med.harvard.edu/~seidman/cg3/genes/MYH7_info.html" title="Sarcomere Protein Gene Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Sarcomere Protein Gene Mut…</a></div><div style="margin-left: 0.5em;"><a href="http://www.angis.org.au/Databases/Heart/heartbreak.html" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">FHC Mutation Database</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MYH7&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA31374" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7577" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0264695.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2155600" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/MYH7#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2155600" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4625/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001200,002212" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4625" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002348;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002348 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003514;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003514 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003515;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003515 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006789;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006789 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009730;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009730 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00019064;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00019064 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-991123-5" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:160760" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4625" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=MYH7&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 129620000, 764859001<br />
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<strong>ICD10CM:</strong> G71.09<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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160760
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MYH7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYH7</a></em></strong>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/14/92?start=-3&limit=10&highlight=92">14q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:23412740-23435660&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">14:23,412,740-23,435,660</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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Location
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
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<a href="/clinicalSynopsis/table?mimNumber=613426,192600,608358,255160,160500,613426" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="6">
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<span class="mim-font">
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<a href="/geneMap/14/92?start=-3&limit=10&highlight=92">
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14q11.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cardiomyopathy, dilated, 1S
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613426"> 613426 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Cardiomyopathy, hypertrophic, 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/192600"> 192600 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Congenital myopathy 7A, myosin storage, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608358"> 608358 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Congenital myopathy 7B, myosin storage, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/255160"> 255160 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Laing distal myopathy
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/160500"> 160500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Left ventricular noncompaction 5
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613426"> 613426 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/160760" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/160760" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The MYH7 gene encodes the beta-cardiac/slow skeletal myosin heavy chain (MyHC-slow), expressed predominantly in the cardiac ventricles and slow skeletal (type 1) myofibers. Myosin acts as a molecular motor through its interaction with actin of the thin filament, which is vital for skeletal muscle force generation (summary by <a href="#6" class="mim-tip-reference" title="Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A., Jungbluth, H. <strong>Recessive MYH7-related myopathy in two families.</strong> Neuromusc. Disord. 29: 456-467, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31130376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31130376</a>] [<a href="https://doi.org/10.1016/j.nmd.2019.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31130376">Beecroft et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31130376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The structural gene for the beta heavy chain of myosin is expressed predominantly in fetal life and is switched on in older animals under conditions of thyroid hormone depletion/replacement and in response to some physical stresses. <a href="#37" class="mim-tip-reference" title="Jandreski, M. A., Sole, M. J., Liew, C.-C. <strong>Two different forms of beta myosin heavy chain are expressed in human striated muscle.</strong> Hum. Genet. 77: 127-131, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3653886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3653886</a>] [<a href="https://doi.org/10.1007/BF00272378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3653886">Jandreski et al. (1987)</a> presented evidence indicating that the cardiac beta-myosin heavy chain mRNA is expressed in skeletal muscle tissue. The expression of cardiac beta-myosin heavy chain mRNA was particularly prominent in the soleus muscle, which is rich in slow-twitch type I muscle fibers. There were only trace amounts in the vastus lateralis and vastus medialis, which consist predominantly of fast-twitch type II fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3653886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Diederich, K. W., Eisele, I., Ried, T., Jaenicke, T., Lichter, P., Vosberg, H.-P. <strong>Isolation and characterization of the complete human beta-myosin heavy chain gene.</strong> Hum. Genet. 81: 214-220, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2522082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2522082</a>] [<a href="https://doi.org/10.1007/BF00278991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2522082">Diederich et al. (1989)</a> cloned the entire gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2522082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By scanning mouse myosin genes for intronic microRNAs (miRNAs), <a href="#82" class="mim-tip-reference" title="van Rooij, E., Quiat, D., Johnson, B. A., Sutherland, L. B., Qi, X., Richardson, J. A., Kelm, R. J., Jr., Olson, E. N. <strong>A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance.</strong> Dev. Cell 17: 662-673, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19922871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19922871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19922871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19922871">van Rooij et al. (2009)</a> identified Mir208b (<a href="/entry/613613">613613</a>) within intron 31 of the Myh7 gene. Northern blot analysis showed that Myh7 and Mir208b were highly expressed in mouse slow-twitch soleus muscle. Little to no expression was detected in heart and in the fast-twitch gastrocnemius/plantaris, tibialis anterior, and extensor digitorum longus muscles. However, <a href="#82" class="mim-tip-reference" title="van Rooij, E., Quiat, D., Johnson, B. A., Sutherland, L. B., Qi, X., Richardson, J. A., Kelm, R. J., Jr., Olson, E. N. <strong>A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance.</strong> Dev. Cell 17: 662-673, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19922871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19922871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19922871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19922871">van Rooij et al. (2009)</a> noted that Myh7 is the predominant myosin in adult heart in large animals, whereas Myh6 (<a href="/entry/160710">160710</a>) predominates in adult mouse heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19922871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<p><a href="#36" class="mim-tip-reference" title="Jaenicke, T., Diederich, K. W., Haas, W., Schleich, J., Lichter, P., Pfordt, M., Bach, A., Vosberg, H.-P. <strong>The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product.</strong> Genomics 8: 194-206, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249844</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90272-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2249844">Jaenicke et al. (1990)</a> demonstrated that the MYH7 gene is 22,883 bp long. The 1,935 amino acids of this protein are encoded by 38 exons. The 5-prime untranslated region (86 bp) is split by 2 introns. The 3-prime untranslated region is 114 bp long. Three Alu repeats were identified within the gene and a fourth one in the 3-prime flanking intergenic region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2249844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Liew, C.-C., Sole, M. J., Yamauchi-Takihara, K., Kellam, B., Anderson, D. H., Lin, L., Liew, J. C. <strong>Complete sequence and organization of the human cardiac beta-myosin heavy chain gene.</strong> Nucleic Acids Res. 18: 3647-3651, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2362820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2362820</a>] [<a href="https://doi.org/10.1093/nar/18.12.3647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2362820">Liew et al. (1990)</a> found that like the rat skeletal myosin heavy chain gene, the cardiac beta-myosin heavy chain gene is divided into 41 exons, the first 2 of which are noncoding. However, exons 37 and 38 are fused; they do not have an intervening intron. The gene extends for 21,828 nucleotides and encodes a deduced 1,1939-amino acid protein with a molecular mass of 222,937 Da. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2362820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#82" class="mim-tip-reference" title="van Rooij, E., Quiat, D., Johnson, B. A., Sutherland, L. B., Qi, X., Richardson, J. A., Kelm, R. J., Jr., Olson, E. N. <strong>A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance.</strong> Dev. Cell 17: 662-673, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19922871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19922871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19922871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19922871">Van Rooij et al. (2009)</a> identified a microRNA (miRNA), Mir208b (<a href="/entry/613613">613613</a>), within intron 31 of the mouse Myh7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19922871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#51" class="mim-tip-reference" title="Matsuoka, R., Yoshida, M. C., Kanda, N., Kimura, M., Ozasa, H., Takao, A. <strong>Human cardiac myosin heavy-chain gene mapped within chromosomal region 14q11.2-q13. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1040-1041, 1989."None>Matsuoka et al. (1989)</a> found that both the alpha and the beta human cardiac myosin heavy chain genes are located in the 14cen-q13 region; the assignment was by somatic cell hybridization and in situ hybridization. <a href="#67" class="mim-tip-reference" title="Qin, H., Kemp, J., Yip, M.-Y., Lam-Po-Tang, P. R. L., Hoh, J. F. Y., Morris, B. J. <strong>Localization of human cardiac beta-myosin heavy chain gene (MYH7) to chromosome 14q12 by in situ hybridization.</strong> Cytogenet. Cell Genet. 54: 74-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249479</a>] [<a href="https://doi.org/10.1159/000132961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2249479">Qin et al. (1990)</a> localized the MYH7 gene to 14q12 by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2249479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The beta cardiac myosin heavy chain is located on chromosome 14, 3.6 kb upstream from the alpha cardiac myosin gene. The 2 genes are oriented in a head-to-tail tandem fashion (<a href="#90" class="mim-tip-reference" title="Yamauchi-Takihara, K., Sole, M. J., Liew, J., Ing, D., Liew, C. C. <strong>Characterization of human cardiac myosin heavy chain genes.</strong> Proc. Nat. Acad. Sci. 86: 3504-3508, 1989. Note: Erratum: Proc. Nat. Acad. Sci. 86: 7416-7417, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2726733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2726733</a>] [<a href="https://doi.org/10.1073/pnas.86.10.3504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2726733">Yamauchi-Takihara et al., 1989</a>; <a href="#26" class="mim-tip-reference" title="Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.</strong> Cell 62: 999-1006, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975517</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90274-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975517">Geisterfer-Lowrance et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1975517+2726733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#83" class="mim-tip-reference" title="van Rooij, E., Sutherland, L. B., Qi, X., Richardson, J. A., Hill, J., Olson, E. N. <strong>Control of stress-dependent cardiac growth and gene expression by a microRNA.</strong> Science 316: 575-579, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17379774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17379774</a>] [<a href="https://doi.org/10.1126/science.1139089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17379774">Van Rooij et al. (2007)</a> found that miRNA208A (MIR208A; <a href="/entry/611116">611116</a>), a cardiac-specific miRNA encoded by intron 27 of the mouse and human MYH6 gene, was required for cardiomyocyte hypertrophy, fibrosis, and expression of Myh7 in response to stress and hypothyroidism in mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17379774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#82" class="mim-tip-reference" title="van Rooij, E., Quiat, D., Johnson, B. A., Sutherland, L. B., Qi, X., Richardson, J. A., Kelm, R. J., Jr., Olson, E. N. <strong>A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance.</strong> Dev. Cell 17: 662-673, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19922871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19922871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19922871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19922871">Van Rooij et al. (2009)</a> found that expression of Myh7 and its intronically encoded miRNA, Mir208b, was upregulated in mouse heart by hypothyroidism caused by inhibition of triiodothyronine (T3; see <a href="/entry/188450">188450</a>) synthesis. This upregulation was reversed by T3 administration. Gain- and loss-of-function experiments in mice showed that expression of Myh7 and Mir208b was controlled by the dominant miRNA in mouse heart, Mir208a. However, <a href="#82" class="mim-tip-reference" title="van Rooij, E., Quiat, D., Johnson, B. A., Sutherland, L. B., Qi, X., Richardson, J. A., Kelm, R. J., Jr., Olson, E. N. <strong>A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance.</strong> Dev. Cell 17: 662-673, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19922871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19922871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19922871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19922871">van Rooij et al. (2009)</a> noted that, in large animals, Myh7 is the predominant myosin in adult heart. In contrast, the predominant myosin in adult mouse heart is Myh6, the host gene of Mir208a. Thus, <a href="#82" class="mim-tip-reference" title="van Rooij, E., Quiat, D., Johnson, B. A., Sutherland, L. B., Qi, X., Richardson, J. A., Kelm, R. J., Jr., Olson, E. N. <strong>A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance.</strong> Dev. Cell 17: 662-673, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19922871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19922871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19922871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19922871">van Rooij et al. (2009)</a> suggested that Mir208b, which shares the same seed sequence as Mir208a, may fulfill the function of Mir208a in large animals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19922871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In mice, adult cardiomyocytes primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6; <a href="/entry/160710">160710</a>), whereas embryonic cardiomyocytes express beta-MHC (Myh7). Cardiac stress triggers adult hearts to undergo hypertrophy and a shift from alpha-MHC to fetal beta-MHC expression. <a href="#28" class="mim-tip-reference" title="Hang, C. T., Yang, J., Han, P., Cheng, H.-L., Shang, C., Ashley, E., Zhou, B., Chang, C.-P. <strong>Chromatin regulation by Brg1 underlies heart muscle development and disease.</strong> Nature 466: 62-67, 2010. Note: Erratum: Nature 475: 532 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20596014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20596014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20596014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20596014">Hang et al. (2010)</a> showed that BRG1 (<a href="/entry/603254">603254</a>), a chromatin-remodeling protein, has a critical role in regulating cardiac growth, differentiation, and gene expression. In embryos, Brg1 promotes myocyte proliferation by maintaining Bmp10 (<a href="/entry/608748">608748</a>) and suppressing p57(kip2) (<a href="/entry/600856">600856</a>) expression. It preserves fetal cardiac differentiation by interacting with histone deacetylases (HDACs; see <a href="/entry/601241">601241</a>) and poly(ADP ribose) polymerase (PARP; <a href="/entry/173870">173870</a>) to repress alpha-MHC and activate beta-MHC. In adults, Brg1 (also known as Smarca4) is turned off in cardiomyocytes. It is reactivated by cardiac stresses and forms a complex with its embryonic partners, HDAC and PARP, to induce a pathologic alpha-MHC-to-beta-MHC shift. Preventing Brg1 reexpression decreases hypertrophy and reverses this MHC switch. BRG1 is activated in certain patients with hypertrophic cardiomyopathy, its level correlating with disease severity and MHC changes. <a href="#28" class="mim-tip-reference" title="Hang, C. T., Yang, J., Han, P., Cheng, H.-L., Shang, C., Ashley, E., Zhou, B., Chang, C.-P. <strong>Chromatin regulation by Brg1 underlies heart muscle development and disease.</strong> Nature 466: 62-67, 2010. Note: Erratum: Nature 475: 532 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20596014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20596014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20596014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20596014">Hang et al. (2010)</a> concluded that their studies showed that BRG1 maintains cardiomyocytes in an embryonic state, and demonstrated an epigenetic mechanism by which 3 classes of chromatin-modifying factors, BRG1, HDAC, and PARP, cooperate to control developmental and pathologic gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20596014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#53" class="mim-tip-reference" title="McKenna, W. J. <strong>Personal Communication.</strong> London, England 5/30/1993."None>McKenna (1993)</a> estimated that 40 to 50% of cases of hypertrophic cardiomyopathy (CMH; <a href="/entry/192600">192600</a>) are due to mutations in the MYH7 gene. He stated that Kaplan-Meier survival curves for these mutations showed that the val606-to-met mutation (<a href="#0005">160760.0005</a>) was associated with normal survivorship, whereas the arg453-to-cys mutation (<a href="#0003">160760.0003</a>) was associated with death in about half the affected individuals by age 40 years.</p><p><a href="#1" class="mim-tip-reference" title="Anan, R., Greve, G., Thierfelder, L., Watkins, H., McKenna, W. J., Solomon, S., Vecchio, C., Shono, H., Nakao, S., Tanaka, H., Mares, A., Jr., Towbin, J. A., Spirito, P., Roberts, R., Seidman, J. G., Seidman, C. E. <strong>Prognostic implications of novel beta-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 93: 280-285, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282798</a>] [<a href="https://doi.org/10.1172/JCI116957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282798">Anan et al. (1994)</a> presented a schematic of 15 mutations within the MYH7 gene that cause CMH. They described a phe513-to-cys mutation (<a href="#0016">160760.0016</a>) in which affected family members had near-normal life expectancy, and an arg719-to-trp mutation (<a href="#0017">160760.0017</a>) in 4 unrelated CMH families with a high incidence of premature death and an average life expectancy in affected individuals of 38 years. They suggested that these findings supported the hypothesis that mutations that alter the charge of the encoded amino acid affects survival more significantly than those that produce a conservative amino acid change. <a href="#41" class="mim-tip-reference" title="Kelly, D. P., Strauss, A. W. <strong>Mechanisms of disease.</strong> New Eng. J. Med. 330: 913-919, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8114864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8114864</a>] [<a href="https://doi.org/10.1056/NEJM199403313301308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8114864">Kelly and Strauss (1994)</a> pointed out that all but one of the known mutations of the MYH7 gene that produce hypertrophic cardiomyopathy result in amino acid substitutions in the protein head or the region in which the head and rod of the molecule intersect. In their Figure 2, they diagrammed the cardiac myosin heavy-chain dimer and the site of the mutations. They suggested that these mutations represent dominant negatives by disturbing contractile function despite the production of a normal protein by the remaining normal allele. Consistent with this conclusion is the finding of <a href="#13" class="mim-tip-reference" title="Cuda, G., Fananapazir, L., Zhu, W.-S., Sellers, J. R., Epstein, N. D. <strong>Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 91: 2861-2865, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8514894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8514894</a>] [<a href="https://doi.org/10.1172/JCI116530" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8514894">Cuda et al. (1993)</a> that mutant beta-myosin separated from the heart muscle in cases of hypertrophic cardiomyopathy of the chromosome 14 type translocate actin filaments with an abnormally low sliding velocity in motility assays in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8282798+8114864+8514894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#47" class="mim-tip-reference" title="Lankford, E. B., Epstein, N. D., Fananapazir, L., Sweeney, H. L. <strong>Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 95: 1409-1414, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883988</a>] [<a href="https://doi.org/10.1172/JCI117795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7883988">Lankford et al. (1995)</a> compared the contractile properties of single slow-twitch muscle fibers from patients with 3 distinct CMH-causing MYH7 mutations with those from normal controls. Fibers from the gly741-to-arg mutation (<a href="#0011">160760.0011</a>), located near the binding site of essential light chain, demonstrated decreased maximum velocity of shortening (39% of normal) and decreased isometric force generation (42% of normal). Fibers with the arg403-to-gln mutation (<a href="#0001">160760.0001</a>) (at the actin interface of myosin) showed lower force/stiffness ratio (56% of normal) and depressed velocity of shortening (50% of normal). Both of these mutation-containing fibers displayed abnormal force-velocity relationships and reduced power output. Fibers from the gly256-to-glu mutation (<a href="#0012">160760.0012</a>), located at the end of the ATP-binding pocket, had contractile properties that were indistinguishable from normal. Thus, variability was found in the nature and extent of functional impairments in skeletal fibers containing different MYH7 gene mutations, and this variability may correlate with the severity and penetrance of the disease resulting from each mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7883988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#68" class="mim-tip-reference" title="Rayment, I., Holden, H. M., Sellers, J. R., Fananapazir, L., Epstein, N. D. <strong>Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.</strong> Proc. Nat. Acad. Sci. 92: 3864-3868, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7731997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7731997</a>] [<a href="https://doi.org/10.1073/pnas.92.9.3864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7731997">Rayment et al. (1995)</a> examined 29 missense mutations in the MYH7 gene that are responsible for 10 to 30% of familial hypertrophic cardiomyopathy cases and analyzed their effects on the 3-dimensional structure of skeletal muscle myosin. <a href="#3" class="mim-tip-reference" title="Arai, S., Matsuoka, R., Hirayama, K., Sakurai, H., Tamura, M., Ozawa, T., Kimura, M., Imamura, S., Furutani, Y., Joh-o, K., Kawana, M., Takao, A., Hosoda, S., Momma, K. <strong>Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.</strong> Am. J. Med. Genet. 58: 267-276, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8533830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8533830</a>] [<a href="https://doi.org/10.1002/ajmg.1320580314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8533830">Arai et al. (1995)</a> reported a thirtieth missense mutation and stated that these had been found in 49 families worldwide at that time. Almost all were located in the region of the gene coding for the globular head of the molecule and only 1 mutation was found in both Caucasian and Japanese families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7731997+8533830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Seidman, C. <strong>Hypertrophic cardiomyopathy: from man to mouse.</strong> J. Clin. Invest. 106: S9-S13, 2000."None>Seidman (2000)</a> pointed out that correlations between genotype and prognosis in hypertrophic cardiomyopathy is possible. Life expectancy is markedly diminished in individuals with the R719W (<a href="#0017">160760.0017</a>) and R403Q (<a href="#0001">160760.0001</a>) mutations in the MYH7 gene but near normal in individuals with the E542Q (<a href="/entry/600958#0006">600958.0006</a>) and 791insG (<a href="/entry/600958#0011">600958.0011</a>) mutations in the MYBPC3 gene.</p><p><a href="#89" class="mim-tip-reference" title="Woo, A., Rakowski, H., Liew, J. C., Zhao, M.-S., Liew, C.-C., Parker, T. G., Zeller, M., Wigle, E. D., Sole, M. J. <strong>Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.</strong> Heart 89: 1179-1185, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975413</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12975413[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/heart.89.10.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975413">Woo et al. (2003)</a> screened 70 probands with hypertrophic cardiomyopathy for mutations in the beta-MHC gene. Mutations in this gene were detected in 15 of 70 probands (21%). Eleven mutations were detected, including 4 novel mutations. Median survival was 66 years (95% CI 64 to 77 years) in all affected subjects. There was a significant difference in survival between subjects according to the affected functional domain. Significant independent predictors of decreased survival were the nonconservative missense mutations that affected the actin binding site and those that affected the rod portion of beta-MHC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12975413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Hougs, L., Havndrup, O., Bundgaard, H., Kober, L., Vuust, J., Larsen, L. A., Christiansen, M., Andersen, P. S. <strong>One-third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region.</strong> Europ. J. Hum. Genet. 13: 161-165, 2005. Note: Erratum: Europ. J. Hum. Genet. 13: 694 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15483641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15483641</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15483641">Hougs et al. (2005)</a> screened for mutations in the rod region (exons 24 to 40) of MYH7 in 92 Danish patients with hypertrophic cardiomyopathy. Using capillary electrophoresis single-strand conformation polymorphism, 3 disease-causing mutations of the rod region were identified in 4 patients, including the R1712W (<a href="#0032">160760.0032</a>) mutation in 2 patients. Two of the patients had already been shown to carry other FHC-associated mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15483641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> identified 2 different MYH7 missense mutations in 2 probands with apical hypertrophy from families in which the mutations also caused other CMH morphologies (see <a href="#0038">160760.0038</a> and <a href="#0039">160760.0039</a>, respectively), and 1 in a sporadic patient with apical hypertrophy (R243H; <a href="#0040">160760.0040</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese proband with CMH (CMH17; <a href="/entry/613873">613873</a>), <a href="#52" class="mim-tip-reference" title="Matsushita, Y., Furukawa, T., Kasanuki, H., Nishibatake, M., Kurihara, Y., Ikeda, A., Kamatani, N., Takeshima, H., Matsuoka, R. <strong>Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.</strong> J. Hum. Genet. 52: 543-548, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17476457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17476457</a>] [<a href="https://doi.org/10.1007/s10038-007-0149-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17476457">Matsushita et al. (2007)</a> identified heterozygosity for a missense mutation in the JPH2 gene (<a href="/entry/605267#0004">605267.0004</a>); subsequent analysis of 15 known CMH-associated genes revealed that the proband also carried 2 mutations in MYH7, F513C (<a href="#0016">160760.0016</a>) and A26V. The authors suggested that mutations in both JPH2 and MYH7 could be associated with the pathogenesis of CMH in this proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17476457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 32-year-old African American woman with severe hypertrophic cardiomyopathy and a family history of CMH and sudden cardiac death, <a href="#23" class="mim-tip-reference" title="Frazier, A., Judge, D. P., Schulman, S. P., Johnson, N., Holmes, K. W., Murphy, A. M. <strong>Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.</strong> Pediat. Cardiol. 29: 846-850, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18175163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18175163</a>] [<a href="https://doi.org/10.1007/s00246-007-9177-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18175163">Frazier et al. (2008)</a> identified a heterozygous mutation in the TNNI3 gene (P82S; <a href="/entry/191044#0003">191044.0003</a>) and a heterozygous mutation in the MYH7 gene (R453S; <a href="#0043">160760.0043</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18175163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From 2000 to 2012, <a href="#16" class="mim-tip-reference" title="Das, J., Ingles, J., Bagnall, R. D., Semsarian, C. <strong>Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.</strong> Genet. Med. 16: 286-293, 2014. Note: Erratum: Genet. Med. 21: 1264 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24113344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24113344</a>] [<a href="https://doi.org/10.1038/gim.2013.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24113344">Das et al. (2014)</a> studied a total of 136 unrelated hypertrophic cardiomyopathy probands, of which 63 (46%) carried at least 1 pathogenic mutation. MYBPC3 (<a href="/entry/600958">600958</a>) accounted for 34 patients, or 47%, and MYH7 accounted for 23 patients, or 32%. Together, these gene variants accounted for 79%. In this study, 5 variants in 6 probands (10%) were reclassified: 2 variants of uncertain significance were upgraded to pathogenic, 1 variant of uncertain significance and 1 pathogenic variant were downgraded to benign, and 1 pathogenic variant (found in 2 families) was downgraded to a variant of uncertain significance. <a href="#16" class="mim-tip-reference" title="Das, J., Ingles, J., Bagnall, R. D., Semsarian, C. <strong>Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.</strong> Genet. Med. 16: 286-293, 2014. Note: Erratum: Genet. Med. 21: 1264 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24113344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24113344</a>] [<a href="https://doi.org/10.1038/gim.2013.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24113344">Das et al. (2014)</a> concluded that given the rapid growth of genetic information available, periodic reassessment of single-nucleotide variant data is essential in hypertrophic cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24113344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Dilated Cardiomyopathy 1S</em></strong></p><p>
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<a href="#40" class="mim-tip-reference" title="Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., Seidman, J. G., Seidman, C. E. <strong>Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.</strong> New Eng. J. Med. 343: 1688-1696, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11106718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11106718</a>] [<a href="https://doi.org/10.1056/NEJM200012073432304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11106718">Kamisago et al. (2000)</a> performed clinical evaluations in 21 kindreds with familial dilated cardiomyopathy (CMD1S; <a href="/entry/613426">613426</a>). In a genomewide linkage study, a genetic locus for mutations associated with dilated cardiomyopathy was identified at chromosome 14q11.2-q13 (maximum lod score = 5.11 at theta = 0.0). Analysis of MYH7 and other genes for sarcomere proteins revealed heterozygous missense mutations in MYH7 in 2 kindreds (S532P, <a href="#0022">160760.0022</a> and P764L, <a href="#0023">160760.0023</a>, respectively). Affected individuals had neither antecedent cardiac hypertrophy nor histopathologic findings characteristic of hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11106718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#84" class="mim-tip-reference" title="Vikhorev, P. G., Smoktunowicz, N., Munster, A. B., Copeland, O., Kostin, S., Montgiraud, C., Messer, A. E., Toliat, M. R., Li, A., Dos Remedios, C. G., Lal, S., Blair, C. A., Campbell, K. S., Guglin, M., Richter, M., Knoll, R., Marston, S. B. <strong>Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.</strong> Sci. Rep. 7: 14829, 2017. Note: Erratum: Sci. Rep. 8: 14485, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29093449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29093449</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29093449[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41598-017-13675-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29093449">Vikhorev et al. (2017)</a> compared contractility and passive stiffness of cardiac myofibril samples from 3 unrelated patients with dilated cardiomyopathy (DCM) and 2 different truncation mutations in titin (TTN; <a href="/entry/188840">188840</a>), 3 unrelated DCM patients with mutations in different contractile proteins (lys36 to gln in TNNI3 (<a href="/entry/191044#0012">191044.0012</a>), gly159 to asp in TNNC1 (<a href="/entry/191040#0001">191040.0001</a>), and glu1426 to lys in MYH7), and controls. All 3 contractile protein mutations, but not the titin mutations, had faster relaxation kinetics than controls. Myofibril passive stiffness was reduced by about 38% in all DCM samples compared with controls, but there was no change in maximum force or titin N2BA/N2B isoform ratio, and there was no titin haploinsufficiency. The authors concluded that decreased myofibril passive stiffness, a common feature in all DCM samples, may be a causative of DCM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29093449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Left Ventricular Noncompaction 5</em></strong></p><p>
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<a href="#42" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. <strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong> Circulation 117: 2893-2901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18506004">Klaassen et al. (2008)</a> analyzed 6 genes encoding sarcomere proteins in 63 unrelated adult probands with left ventricular noncompaction (LVNC) but no other congenital heart anomalies (see LVNC5; <a href="/entry/613426">613426</a>), and identified 7 different heterozygous mutations in the MYH7 gene in the probands from 4 families and in 4 sporadic patients (see, e.g., <a href="#0040">160760.0040</a>-<a href="#0042">160760.0042</a>). <a href="#42" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. <strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong> Circulation 117: 2893-2901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18506004">Klaassen et al. (2008)</a> noted that 5 of the 7 mutations were located within the genomic sequence of exon 8 to exon 9 of MYH7, which appeared to be a cluster for LVNC mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18506004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother with myosin storage myopathy, who later developed CMH, and in her daughter, who had early-symptomatic LVNC, <a href="#81" class="mim-tip-reference" title="Uro-Coste, E., Arne-Bes, M.-C., Pellissier, J.-F., Richard, P., Levade, T., Heitz, F., Figarella-Branger, D., Delisle, M.-B. <strong>Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.</strong> Neuromusc. Disord. 19: 163-166, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19138847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19138847</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.11.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19138847">Uro-Coste et al. (2009)</a> identified heterozygosity for the L1793P mutation in MYH7 (<a href="#0037">160760.0037</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an analysis of the MYH7 gene in 141 white probands of western European descent diagnosed with Ebstein anomaly (see <a href="/entry/224700">224700</a>), <a href="#66" class="mim-tip-reference" title="Postma, A. V., van Engelen, K., van de Meerakker, J., Rahman, T., Probst, S., Baars, M. J. H., Bauer, U., Pickardt, T., Sperling, S. R., Berger, F., Moorman, A. F. M., Mulder, B. J. M., Thierfelder, L., Keavney, B., Goodship, J., Klaassen, S. <strong>Mutations in the sarcomere gene MYH7 in Ebstein anomaly.</strong> Circ. Cardiovasc. Genet. 4: 43-50, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21127202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21127202</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.110.957985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21127202">Postma et al. (2011)</a> identified heterozygous mutations in 8 (see, e.g., <a href="#0045">160760.0045</a> and <a href="#0046">160760.0046</a>). Of these 8 probands, LVNC was present in 7 and uncertain in 1, whereas none of the 133 mutation-negative probands had LVNC. Evaluation of all available family members of mutation-positive probands revealed 3 families in which additional mutation-positive individuals had cardiomyopathy or congenital heart malformations, including type II atrial septal defect, ventricular septal defect, bicuspid aortic valve, aortic coarctation, and pulmonary artery stenosis/hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21127202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a detailed discussion of a family with left ventricular noncompaction (LVNC) that segregated with mutations in the MYH7, MKL2 (<a href="/entry/609463">609463</a>), and NKX2-5 (<a href="/entry/600584">600584</a>) genes, see LVNC5 (<a href="/entry/613426">613426</a>).</p><p><strong><em>Laing Distal Myopathy</em></strong></p><p>
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<a href="#46" class="mim-tip-reference" title="Laing, N. G., Laing, B. A., Meredith, C., Wilton, S. D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F. L., Kakulas, B. A. <strong>Autosomal dominant distal myopathy: linkage to chromosome 14.</strong> Am. J. Hum. Genet. 56: 422-427, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847377</a>]" pmid="7847377">Laing et al. (1995)</a> mapped Laing distal myopathy (MPD1; <a href="/entry/160500">160500</a>) to chromosome 14. In affected members of 7 separate families with Laing distal myopathy, <a href="#54" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al. (2004)</a> sequenced the MYH7 gene, a positional candidate for the site of the causative mutation. They identified 5 heterozygous mutations in 6 families (see <a href="#0029">160760.0029</a>-<a href="#0030">160760.0030</a>) and no mutations in the seventh family. All 5 mutations were predicted, by in silico analysis, to disrupt locally the ability of the myosin tail to form a coiled coil, which is its normal structure. The findings demonstrated that heterozygous mutations toward the 3-prime end of MYH7 can cause Laing distal myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15322983+7847377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Myosin Storage Congenital Myopathy 7A, Autosomal Dominant</em></strong></p><p>
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In affected members of a family and in an unrelated patient with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; <a href="/entry/608358">608358</a>), <a href="#78" class="mim-tip-reference" title="Tajsharghi, H., Thornell, L.-E., Lindberg, C., Lindvall, B., Henriksson, K.-G., Oldfors, A. <strong>Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.</strong> Ann. Neurol. 54: 494-500, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14520662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14520662</a>] [<a href="https://doi.org/10.1002/ana.10693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14520662">Tajsharghi et al. (2003)</a> identified a heterozygous missense mutation in the MYH7 gene (R1845W; <a href="#0028">160760.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14520662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Saudi Arabian family with autosomal dominant CMYO7A <a href="#10" class="mim-tip-reference" title="Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J. <strong>Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.</strong> Neurology 61: 1519-1523, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663035</a>] [<a href="https://doi.org/10.1212/01.wnl.0000096022.09887.9d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14663035">Bohlega et al. (2003)</a>, <a href="#9" class="mim-tip-reference" title="Bohlega, S., Abu-Amero, S. N., Wakil, S. M., Carroll, P., Al-Amr, R., Lach, B., Al-Sayed, Y., Cupler, E. J., Meyer, B. F. <strong>Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.</strong> Neurology 62: 1518-1521, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136674</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123255.92062.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136674">Bohlega et al. (2004)</a> identified a heterozygous mutation in the MYH7 gene (H1904L; <a href="#0031">160760.0031</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15136674+14663035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Belgian patient with myosin storage myopathy, originally reported by <a href="#12" class="mim-tip-reference" title="Ceuterick, C., Martin, J. J., Martens, C. <strong>Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy.</strong> Clin. Neuropath. 12: 79-83, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7682901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7682901</a>]" pmid="7682901">Ceuterick et al. (1993)</a>, <a href="#45" class="mim-tip-reference" title="Laing, N. G., Ceuterick-de Groote, C., Dye, D. E., Liyanage, K., Duff, R. M., Dubois, B., Robberecht, W., Sciot, R., Martin, J.-J., Goebel, H. H. <strong>Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.</strong> Neurology 64: 527-529, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699387</a>] [<a href="https://doi.org/10.1212/01.WNL.0000150581.37514.30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15699387">Laing et al. (2005)</a> identified a heterozygous mutation in the MYH7 gene (R1845W; <a href="#0028">160760.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7682901+15699387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 1 of the affected sibs with congenital myopathy originally reported by <a href="#11" class="mim-tip-reference" title="Cancilla, P. A., Kalyanaraman, K., Verity, M. A., Munsat, T., Pearson, C. M. <strong>Familial myopathy with probable lysis of myofibrils in type 1 fibers.</strong> Neurology 21: 579-585, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4104682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4104682</a>] [<a href="https://doi.org/10.1212/wnl.21.6.579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4104682">Cancilla et al. (1971)</a>, <a href="#20" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. <strong>Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.</strong> Neuromusc. Disord. 16: 357-360, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16684601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16684601</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16684601">Dye et al. (2006)</a> identified a heterozygous mutation in the MYH7 gene (L1793P; <a href="#0037">160760.0037</a>), confirming that the disease in that family was autosomal dominant myosin storage myopathy (CMYO7A). <a href="#20" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. <strong>Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.</strong> Neuromusc. Disord. 16: 357-360, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16684601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16684601</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16684601">Dye et al. (2006)</a> noted that contact with the family had been lost and DNA studies were performed on archival postmortem sections from the affected sister who died at age 25 years. The sibs presumably had the disease because of gonadal mosaicism in 1 of the unaffected parents, although this could not be confirmed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16684601+4104682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A, <a href="#64" class="mim-tip-reference" title="Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. <strong>MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.</strong> Neuromusc. Disord. 17: 321-329, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17336526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17336526</a>] [<a href="https://doi.org/10.1016/j.nmd.2007.01.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17336526">Pegoraro et al. (2007)</a> identified a heterozygous missense mutation in the MYH7 gene (R1845W; <a href="#0028">160760.0028</a>). Two affected members of another family (family B) carried the same heterozygous mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 12 affected members of a 5-generation Spanish family previously reported by <a href="#74" class="mim-tip-reference" title="Sobrido, M. J., Fernandez, J. M., Fontoira, E., Perez-Sousa, C., Cabello, A., Castro, M., Teijeira, S., Alvarez, S., Mederer, S., Rivas, E., Seijo-Martinez, M., Navarro, C. <strong>Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.</strong> Brain 128: 1716-1727, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15857933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15857933</a>] [<a href="https://doi.org/10.1093/brain/awh511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15857933">Sobrido et al. (2005)</a> with CMYO7A, <a href="#62" class="mim-tip-reference" title="Ortolano, S., Tarrio, R., Blanco-Arias, P., Teijeira, S., Rodriguez-Trelles, F., Garcia-Murias, M., Delague, V., Levy, N., Fernandez, J. M., Quintans, B., Millan, B. S., Carracedo, A., Navarro, C., Sobrido, M.-J. <strong>A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.</strong> Neuromusc. Disord. 21: 254-262, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288719</a>] [<a href="https://doi.org/10.1016/j.nmd.2010.12.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288719">Ortolano et al. (2011)</a> identified a heterozygous mutation in the C-terminal region of the MYH7 gene (<a href="#0048">160760.0048</a>). The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in the family. It was not present in 202 population controls. Two skeletal muscle samples studied had normal expression of type I and II myosin heavy chains, but only a younger patient showed decreased MYH7 transcript levels compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21288719+15857933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother with myosin storage myopathy, who later developed CMH, and in her daughter, who had early-symptomatic LVNC, <a href="#81" class="mim-tip-reference" title="Uro-Coste, E., Arne-Bes, M.-C., Pellissier, J.-F., Richard, P., Levade, T., Heitz, F., Figarella-Branger, D., Delisle, M.-B. <strong>Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.</strong> Neuromusc. Disord. 19: 163-166, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19138847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19138847</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.11.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19138847">Uro-Coste et al. (2009)</a> identified heterozygosity for the L1793P mutation in MYH7 (<a href="#0037">160760.0037</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. <strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong> Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19336582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19336582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0900107106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19336582">Armel and Leinwand (2009)</a> analyzed the functional effects of 4 different heterozygous MYH7 mutations in the rod or tail domain that were found to be responsible for myosin storage myopathy: R1845W (<a href="#0028">160760.0028</a>), H1901L (<a href="#0031">160760.0031</a>), E1886K (<a href="#0035">160760.0035</a>), and L1793P (<a href="#0037">160760.0037</a>). None of the mutations altered the secondary structure of the protein, but L1793P and H1901L showed decreased thermodynamic stability. All mutations decreased the extent of self-assembly of the light meromyosin rod (less than 50 to 60%) compared to the wildtype protein. R1845W and H1901L showed formation of more stable and larger filaments, whereas L1793P and E1886K showed more rapid filament degradation. <a href="#4" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. <strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong> Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19336582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19336582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0900107106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19336582">Armel and Leinwand (2009)</a> noted that the assembly of muscle filaments is a multistep process that involves both the proper folding of alpha-helices into coiled-coils, and the assembly of these coiled-coils, in proper register, into filaments, and concluded that defects in any one of these steps can result in improper filament formation leading to muscle disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19336582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review, <a href="#77" class="mim-tip-reference" title="Tajsharghi, H., Oldfors, A. <strong>Myosinopathies: pathology and mechanisms.</strong> Acta Neuropath. 125: 3-18, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22918376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22918376</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22918376[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00401-012-1024-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22918376">Tajsharghi and Oldfors (2013)</a> noted that mutations causing CMYO7A are usually found in the distal rod region of the MYH7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22918376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Myosin Storage Congenital Myopathy 7B, Autosomal Recessive</em></strong></p><p>
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In the proband of a consanguineous British family in which 3 sibs with autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; <a href="/entry/255160">255160</a>) developed hypertrophic cardiomyopathy and respiratory failure, <a href="#76" class="mim-tip-reference" title="Tajsharghi, H., Oldfors, A., Macleod, D. P., Swash, M. <strong>Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.</strong> Neurology 68: 962 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17372140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17372140</a>] [<a href="https://doi.org/10.1212/01.wnl.0000257131.13438.2c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17372140">Tajsharghi et al. (2007)</a> identified a homozygous missense mutation in the MYH7 gene (E1886K; <a href="#0035">160760.0035</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17372140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Turkish brothers, born of related parents, with CMYO7B, who were originally reported by <a href="#61" class="mim-tip-reference" title="Onengut, S., Ugur, S. A., Karasoy, H., Yuceyar, N., Tolun, A. <strong>Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.</strong> Neuromusc. Disord. 14: 4-9, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14659406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14659406</a>] [<a href="https://doi.org/10.1016/s0960-8966(03)00163-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14659406">Onengut et al. (2004)</a>, <a href="#91" class="mim-tip-reference" title="Yuceyar, N., Ayhan, O., Karasoy, H., Tolun, A. <strong>Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.</strong> Neuromusc. Disord. 25: 340-344, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25666907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25666907</a>] [<a href="https://doi.org/10.1016/j.nmd.2015.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25666907">Yuceyar et al. (2015)</a> identified a homozygous missense mutation in the MYH7 gene (R1820W; <a href="#0047">160760.0047</a>). The mutation, which was found by linkage analysis and candidate gene sequencing, segregated with the disorder in the family; functional studies of the variant were not performed. Both patients had young adult onset of scapuloperoneal weakness and atrophy; 1 brother developed severe dilated cardiomyopathy in his forties, whereas the other had milder cardiac symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25666907+14659406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 patients from 2 unrelated families with CMYO7B, <a href="#6" class="mim-tip-reference" title="Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A., Jungbluth, H. <strong>Recessive MYH7-related myopathy in two families.</strong> Neuromusc. Disord. 29: 456-467, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31130376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31130376</a>] [<a href="https://doi.org/10.1016/j.nmd.2019.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31130376">Beecroft et al. (2019)</a> identified homozygous or compound heterozygous mutations in the MYH7 gene. Two sibs from a consanguineous family (AUS1) carried a homozygous missense mutation (R1712W, <a href="#0032">160760.0032</a>), and an unrelated woman (UK1) was compound heterozygous for a nonsense and a missense mutation (Q1567X, <a href="#0049">160760.0049</a> and E1555G, <a href="#0050">160760.0050</a>). The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were each inherited from an unaffected parent in both families. None were present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31130376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#25" class="mim-tip-reference" title="Geisterfer-Lowrance, A. A., Christe, M., Conner, D. A., Ingwall, J. S., Schoen, F., Seidman, C. E., Seidman, J. G. <strong>A mouse model of familial hypertrophic cardiomyopathy.</strong> Science 272: 731-734, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8614836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8614836</a>] [<a href="https://doi.org/10.1126/science.272.5262.731" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8614836">Geisterfer-Lowrance et al. (1996)</a> engineered the human CMH cardiac myosin heavy chain gene mutation arg403-to-gln (R403Q; <a href="#0001">160760.0001</a>) into the mouse genome to create a murine model of familial hypertrophic cardiomyopathy. Homozygous mice died within a week after birth, while heterozygous mice displayed both histologic and hemodynamic abnormalities characteristic of CMH. In addition, the CMH mice demonstrated gender and developmental differences. Male CMH mice demonstrated more severe myocyte hypertrophy, disarray, and interstitial fibrosis than their female littermates, and both sexes showed increased cardiac dysfunction and histopathology as they aged. Heterozygous CMH mice also had sudden death of uncertain etiology, especially during periods of exercise. <a href="#7" class="mim-tip-reference" title="Berul, C. I., Christe, M. E., Aronovitz, M. J., Seidman, C. E., Seidman, J. G., Mendelsohn, M. E. <strong>Electrophysiological abnormalities and arrhythmias in alpha-MHC mutant familial hypertrophic cardiomyopathy mice.</strong> J. Clin. Invest. 99: 570-576, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9045856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9045856</a>] [<a href="https://doi.org/10.1172/JCI119197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9045856">Berul et al. (1997)</a> found that in contrast to wildtype mice which had completely normal cardiac electrophysiology, CMH mice demonstrated (a) electrocardiographic abnormalities including prolonged repolarization intervals and rightward axis; (b) electrophysiologic abnormalities including heterogeneous ventricular conduction properties and prolonged sinus node recovery time; and (c) inducible ventricular ectopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8614836+9045856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Fatkin, D., Christe, M. E., Aristizabal, O., McConnell, B. K., Srinivasan, S., Schoen, F. J., Seidman, C. E., Turnbull, D. H., Seidman, J. G. <strong>Neonatal cardiomyopathy in mice homozygous for the arg403-to-gln mutation in the alpha cardiac myosin heavy chain gene.</strong> J. Clin. Invest. 103: 147-153, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9884344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9884344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9884344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI4631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9884344">Fatkin et al. (1999)</a> reported further studies of the CMH mouse in which the arg403-to-gln mutation had been introduced by homologous recombination. Heterozygous mice developed myocardial histologic abnormalities similar to those in human CMH by 15 weeks of age. Sedentary heterozygous mice had a normal life span. Homozygous mutant mice were liveborn, but, unlike their heterozygous littermates, all died within 1 week. <a href="#22" class="mim-tip-reference" title="Fatkin, D., Christe, M. E., Aristizabal, O., McConnell, B. K., Srinivasan, S., Schoen, F. J., Seidman, C. E., Turnbull, D. H., Seidman, J. G. <strong>Neonatal cardiomyopathy in mice homozygous for the arg403-to-gln mutation in the alpha cardiac myosin heavy chain gene.</strong> J. Clin. Invest. 103: 147-153, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9884344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9884344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9884344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI4631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9884344">Fatkin et al. (1999)</a> found that neonatal lethality was caused by a fulminant dilated cardiomyopathy characterized by myocyte dysfunction and loss. They studied cardiac dimensions and functions for the first time in neonatal mice by high frequency (45 MHz) echocardiography and found that both were normal at birth. Between days 4 and 6, homozygous deficient mice developed a rapidly progressive cardiomyopathy with left ventricular dilation, wall thinning, and reduced systolic contraction. Histopathology revealed myocardial necrosis with dystrophic calcification. Electron microscopy showed normal architecture intermixed with focal myofibrillar disarray. <a href="#22" class="mim-tip-reference" title="Fatkin, D., Christe, M. E., Aristizabal, O., McConnell, B. K., Srinivasan, S., Schoen, F. J., Seidman, C. E., Turnbull, D. H., Seidman, J. G. <strong>Neonatal cardiomyopathy in mice homozygous for the arg403-to-gln mutation in the alpha cardiac myosin heavy chain gene.</strong> J. Clin. Invest. 103: 147-153, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9884344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9884344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9884344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI4631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9884344">Fatkin et al. (1999)</a> speculated that variable incorporation of mutant and normal MYHC into sarcomeres of heterozygotes may account for focal myocyte death in familial hypertrophic cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9884344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In R403Q-knockin mice, <a href="#24" class="mim-tip-reference" title="Gao, W. D., Perez, N. G., Seidman, C. E., Seidman, J. G., Marban, E. <strong>Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 103: 661-666, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10074482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10074482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10074482[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI5220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10074482">Gao et al. (1999)</a> observed that during twitch contractions, peak intracellular Ca(2+) was higher in mutant muscles than in wildtype muscles, but force development was equivalent in both. Developed force fell at higher stimulation rates in the mutants but not in controls. <a href="#24" class="mim-tip-reference" title="Gao, W. D., Perez, N. G., Seidman, C. E., Seidman, J. G., Marban, E. <strong>Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 103: 661-666, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10074482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10074482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10074482[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI5220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10074482">Gao et al. (1999)</a> concluded that calcium cycling and myofilament properties are both altered in CMH mutant mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10074482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Marian, A. J., Wu, Y., Lim, D.-S., McCluggage, M., Youker, K., Yu, Q., Brugada, R., DeMayo, F., Quinones, M., Roberts, R. <strong>A transgenic rabbit model for human hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 104: 1683-1692, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10606622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10606622</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10606622[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI7956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10606622">Marian et al. (1999)</a> created a transgenic rabbit model of hypertrophic cardiomyopathy by injecting a transgene carrying the R403Q mutation into fertilized zygotes. Expression of transgene mRNA and protein were confirmed by Northern blotting and 2-dimensional gel electrophoresis followed by immunoblotting, respectively. Animals carrying the mutant transgene showed substantial myocyte disarray and a 3-fold increase in interstitial collagen expression in the myocardium. Mean septal thickness was comparable between rabbits carrying the wildtype transgene and nontransgenic littermates, but was significantly increased in the mutant transgenic animals. Posterior wall thickness and left ventricular mass were also increased, but dimensions and systolic function were normal. Premature death was more common in mutant than in wildtype transgenic rabbits or in nontransgenic littermates. Thus, the phenotype of patients with the R403Q mutation of the MYH7 was reproduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10606622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To minimize confounding variables while assessing relationships between CMH histopathology and arrhythmia vulnerability, <a href="#88" class="mim-tip-reference" title="Wolf, C. M., Moskowitz, I. P. G., Arno, S., Branco, D. M., Semsarian, C., Bernstein, S. A., Peterson, M., Maida, M., Morley, G. E., Fishman, G., Berul, C. I., Seidman, C. E., Seidman, J. G. <strong>Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia.</strong> Proc. Nat. Acad. Sci. 102: 18123-18128, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16332958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16332958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16332958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0509145102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16332958">Wolf et al. (2005)</a> generated inbred CMH mice carrying the R403Q mutation and observed variable susceptibility to arrhythmias, differences in ventricular hypertrophy, and variable amounts and distribution of fibrosis and myocyte disarray. There was no correlation between the amount and/or pattern of fibrosis or the quantity of myocyte disarray and the propensity for arrhythmia as assessed by ex vivo high-resolution mapping and in vivo electrophysiologic study; however, the amount of ventricular hypertrophy was significantly associated with increased arrhythmia susceptibility. <a href="#88" class="mim-tip-reference" title="Wolf, C. M., Moskowitz, I. P. G., Arno, S., Branco, D. M., Semsarian, C., Bernstein, S. A., Peterson, M., Maida, M., Morley, G. E., Fishman, G., Berul, C. I., Seidman, C. E., Seidman, J. G. <strong>Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia.</strong> Proc. Nat. Acad. Sci. 102: 18123-18128, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16332958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16332958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16332958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0509145102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16332958">Wolf et al. (2005)</a> concluded that the 3 cardinal manifestations of CMH (cardiac hypertrophy, myocyte fibrosis, and disarray) reflect independent pathologic processes within myocytes carrying a sarcomere gene mutation and that the severity of fibrosis and disarray is substantially influenced by unknown somatic factors, and they suggested that a shared pathway triggered by sarcomere gene mutations links cardiac hypertrophy and arrhythmias in CMH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16332958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The human hypertrophic cardiomyopathy-causing mutation MYH7 R403Q (<a href="#0001">160760.0001</a>) causes particularly severe disease characterized by early-onset and progressive myocardial dysfunction, with a high incidence of cardiac sudden death. MHC(403/+) mice express an R403Q mutation in Myh6 (<a href="/entry/160710">160710</a>) under the control of the endogenous Myh locus. <a href="#39" class="mim-tip-reference" title="Jiang, J., Wakimoto, H., Seidman, J. G., Seidman, C. E. <strong>Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy.</strong> Science 342: 111-114, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24092743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24092743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24092743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1236921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24092743">Jiang et al. (2013)</a> found that expression of the Myh6 R403Q mutation in mice can be selectively silenced by an RNA interference (RNAi) cassette delivered by an adeno-associated virus vector. RNAi-transduced MHC(403/+) mice developed neither hypertrophy nor myocardial fibrosis, the pathologic manifestations of hypertrophic cardiomyopathy, for at least 6 months. Because inhibition of hypertrophic cardiomyopathy was achieved by only a 25% reduction in the levels of mutant transcripts, <a href="#39" class="mim-tip-reference" title="Jiang, J., Wakimoto, H., Seidman, J. G., Seidman, C. E. <strong>Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy.</strong> Science 342: 111-114, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24092743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24092743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24092743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1236921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24092743">Jiang et al. (2013)</a> suggested that the variable clinical phenotype in hypertrophic cardiomyopathy patients reflects allele-specific expression and that partial silencing of mutant transcripts may have therapeutic benefit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24092743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Green, E. M., Wakimoto, H., Anderson, R. L., Evanchik, M. J., Gorham, J. M., Harrison, B. C., Henze, M., Kawas, R., Oslob, J. D., Rodriguez, H. M., Song, Y., Wan, W., Leinwand, L. A., Spudich, J. A., McDowell, R. S., Seidman, J. G., Seidman, C. E. <strong>A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.</strong> Science 351: 617-621, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26912705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26912705</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26912705[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.aad3456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26912705">Green et al. (2016)</a> identified a small molecule, MYK-461, that reduces contractility by decreasing the adenosine triphosphatase activity of the cardiac myosin heavy chain. They demonstrated that early, chronic administration of MYK-461 suppresses the development of ventricular hypertrophy, cardiomyocyte disarray, and myocardial fibrosis, and attenuates hypertrophic and profibrotic gene expression in mice harboring heterozygous human mutations (e.g., R403Q, <a href="#0001">160760.0001</a>; R453C, <a href="#0003">160760.0003</a>; and R719W, <a href="#0017">160760.0017</a>) in the myosin heavy chain. (Because adult mouse cardiomyocytes primarily express alpha-myosin heavy chain, and because the mouse alpha chain is 92% identical to the human beta chain, these mutations were introduced into the mouse Myh6 gene.) These data indicated that hyperdynamic contraction is essential for HCM pathobiology and that inhibitors of sarcomere contraction may be a valuable therapeutic approach for HCM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26912705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the large French-Canadian kindred originally reported by <a href="#63" class="mim-tip-reference" title="Pare, J. A. P., Fraser, R. G., Pirozynski, W. J., Shanks, J. A., Stubington, D. <strong>Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy.</strong> Am. J. Med. 31: 37-62, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13732753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13732753</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90222-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13732753">Pare et al. (1961)</a> and shown to have linkage of the cardiac disorder (CMH1; <a href="/entry/192600">192600</a>) to markers on the proximal portion of 14q, <a href="#26" class="mim-tip-reference" title="Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.</strong> Cell 62: 999-1006, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975517</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90274-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975517">Geisterfer-Lowrance et al. (1990)</a> found a missense mutation in the beta cardiac myosin heavy chain that converted arginine-403 to glutamine (R403Q). A guanine residue at position 10,162 (enumerated as in <a href="#36" class="mim-tip-reference" title="Jaenicke, T., Diederich, K. W., Haas, W., Schleich, J., Lichter, P., Pfordt, M., Bach, A., Vosberg, H.-P. <strong>The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product.</strong> Genomics 8: 194-206, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249844</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90272-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2249844">Jaenicke et al., 1990</a>) was mutated to an adenine residue. The mutation generated a new DdeI site and changed the CGG(arg) codon to CAG(gln). <a href="#65" class="mim-tip-reference" title="Perryman, M. B., Yu, Q., Marian, A. J., Mares, A., Jr., Czernuszewicz, G., Ifegwu, J., Hill, R., Roberts, R. <strong>Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 90: 271-277, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634614</a>] [<a href="https://doi.org/10.1172/JCI115848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634614">Perryman et al. (1992)</a> found that the R403Q mutation was identifiable in myocardial mRNA. <a href="#70" class="mim-tip-reference" title="Ross, R. S., Knowlton, K. U. <strong>Two brothers with unexplained cardiomegaly: initial clues to the molecular basis of a hereditary cardiac disease.</strong> Trends Cardiovasc. Med. 2: 2-5, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21239280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21239280</a>] [<a href="https://doi.org/10.1016/1050-1738(92)90036-R" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21239280">Ross and Knowlton (1992)</a> reviewed this discovery beginning with the patients first seen by Pare in the 1950s. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1975517+2249844+1634614+13732753+21239280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using an isolated, isovolumic heart preparation where cardiac performance was measured simultaneously with cardiac energetics using (31)P nuclear magnetic resonance spectroscopy, <a href="#75" class="mim-tip-reference" title="Spindler, M., Saupe, K. W., Christe, M. E., Sweeney, H. L., Seidman, C. E., Seidman, J. G., Ingwall, J. S. <strong>Diastolic dysfunction and altered energetics in the alpha-MHC-403/+ mouse model of familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 101: 1775-1783, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9541509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9541509</a>] [<a href="https://doi.org/10.1172/JCI1940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9541509">Spindler et al. (1998)</a> studied the effects of the codon 403 missense mutation. They observed 3 major alterations in the physiology and bioenergetics of the mutant mouse hearts. First, while there was no evidence for systolic dysfunction, diastolic function was impaired during inotropic stimulation. Diastolic dysfunction was manifest as both a decreased rate of left ventricular relaxation and an increase in end-diastolic pressure. Second, under baseline conditions the mutant R403Q mouse hearts had lower phosphocreatine and increased inorganic phosphate contents resulting in a decrease in the calculated value for the free energy released from ATP hydrolysis. Third, mutant hearts that were studied unpaced responded to increased perfusate calcium by decreasing heart rate approximately twice as much as wildtypes. The authors concluded that the hearts from mice carrying the R403Q mutation have workload-dependent diastolic dysfunction resembling the human form of familial hypertrophic cardiomyopathy. Changes in high-energy phosphate content suggested that an energy-requiring process may contribute to the observed diastolic dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9541509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bashyam, M. D., Savithri, G. R., Kumar, M. S., Narasimhan, C., Nallari, P. <strong>Molecular genetics of familial hypertrophic cardiomyopathy (FHC).</strong> J. Hum. Genet. 48: 55-64, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12601548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12601548</a>] [<a href="https://doi.org/10.1007/s100380300007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12601548">Bashyam et al. (2003)</a> pointed out that polymorphism in the ACE1 gene (<a href="/entry/106180">106180</a>) had been shown to affect the prognosis in familial hypertrophic cardiomyopathy. The DD allele of the ACE1 gene (<a href="/entry/106180#0001">106180.0001</a>) was associated with a severe form of hypertrophy and sudden death in patients with familial hypertrophic cardiomyopathy (<a href="#35" class="mim-tip-reference" title="Iwai, N., Ohmichi, N., Nakamura, Y., Kinoshita, M. <strong>DD genotype of the angiotensin-converting enzyme gene is a risk factor for left ventricular hypertrophy.</strong> Circulation 90: 2622-2628, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7994801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7994801</a>] [<a href="https://doi.org/10.1161/01.cir.90.6.2622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7994801">Iwai et al., 1994</a>). <a href="#80" class="mim-tip-reference" title="Tesson, F., Dufour, C., Moolman, J. C., Carrier, L., Al-Mahdawi, S., Chojnowska, L., Dubourg, O., Soubrier, F., Brink, P., Komajda, M., Guicheney, P., Schwartz, K., Feingold, J. <strong>The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation.</strong> J. Molec. Cell Cardiol. 29: 831-838, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9140839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9140839</a>] [<a href="https://doi.org/10.1006/jmcc.1996.0332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9140839">Tesson et al. (1997)</a> established an association of the D allele at the ACE1 locus with the R403Q mutation in MYH7, but not with MYBPC3 (<a href="/entry/600958">600958</a>) mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7994801+12601548+9140839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a ribonuclease protection assay, <a href="#86" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>] [<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552912">Watkins et al. (1992)</a> screened the beta cardiac myosin heavy-chain genes of probands from 25 unrelated families with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>). Seven different mutations were identified in 12 of the 25 families; see <a href="#0003">160760.0003</a>-<a href="#0007">160760.0007</a>. All were missense mutations; 5 were clustered in the head of the beta-chain, which comprises the 5-prime 866 amino acids, and 2 were located in the 5-prime or hinge portion of the rod part. Six of the mutations resulted in a change in the charge of the amino acid. These patients had a shorter life expectancy (mean age at death, 33 years) than did patients with the one mutation that did not produce a change in charge, val606-to-met. One of the mutations they found was a substitution of glutamine for arginine-249. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913625 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913625;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015145 OR RCV000035717 OR RCV000158799 OR RCV000230258 OR RCV000618958 OR RCV001170514 OR RCV001375645 OR RCV004532356" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015145, RCV000035717, RCV000158799, RCV000230258, RCV000618958, RCV001170514, RCV001375645, RCV004532356" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015145...</a>
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<p>See <a href="#0002">160760.0002</a>. <a href="#86" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>] [<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552912">Watkins et al. (1992)</a> found substitution of cysteine for arginine-453 in 2 unrelated families with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>). One of the families also had an alpha/beta cardiac myosin heavy chain hybrid gene which was presumably of no functional significance, inasmuch as the 5-prime promoter region was derived from the alpha subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-generation Chinese family, <a href="#43" class="mim-tip-reference" title="Ko, Y.-L., Chen, J.-J., Tang, T.-K., Cheng, J.-J., Lin, S.-Y., Liou, Y.-C., Kuan, P., Wu, C.-W., Lien, W.-P., Liew, C.-C. <strong>Malignant familial hypertrophic cardiomyopathy in a family with a 453arg-to-cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.</strong> Hum. Genet. 97: 585-590, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8655135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8655135</a>] [<a href="https://doi.org/10.1007/BF02281865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8655135">Ko et al. (1996)</a> observed the coexistence of sudden death and end-stage heart failure due to the arg453-to-cys mutation. The average age of death in affected members of the family was 34 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8655135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913626 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913626;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913626?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015146 OR RCV000035744 OR RCV000223743 OR RCV000471604 OR RCV001170509 OR RCV002408465" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015146, RCV000035744, RCV000223743, RCV000471604, RCV001170509, RCV002408465" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015146...</a>
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<p>See <a href="#0002">160760.0002</a>. <a href="#86" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>] [<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552912">Watkins et al. (1992)</a> found the gly584-to-arg mutation in 2 unrelated families with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913627;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913627?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015147 OR RCV000015167 OR RCV000035750 OR RCV000223823 OR RCV000252267 OR RCV000473084 OR RCV001525146 OR RCV003147290 OR RCV003147293 OR RCV003147294 OR RCV003320032 OR RCV004545730" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015147, RCV000015167, RCV000035750, RCV000223823, RCV000252267, RCV000473084, RCV001525146, RCV003147290, RCV003147293, RCV003147294, RCV003320032, RCV004545730" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015147...</a>
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<p>See <a href="#0002">160760.0002</a>. <a href="#86" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>] [<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552912">Watkins et al. (1992)</a> found this mutation in 3 unrelated families with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>). Of the 7 mutations they found, this was the only one that produced no change in the charge of the amino acid. Although the affected patients did not differ in other clinical manifestations of familial hypertrophic cardiomyopathy, patients in this family had nearly normal survival; mean age at death was 33 years in the 11 families with one or another mutation that substituted an amino acid with a different charge. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H. <strong>Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)</strong> J. Med. Genet. 38: 385-387, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424919</a>] [<a href="https://doi.org/10.1136/jmg.38.6.385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424919">Blair et al. (2001)</a> identified the val606-to-met mutation in a family in which 2 individuals had suffered sudden death at an early age. The mutation was found to be in cis with an ala728-to-val (A728V) mutation (<a href="#0025">160760.0025</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913628 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913628;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015148 OR RCV000158573 OR RCV000197762 OR RCV000252292 OR RCV000762922 OR RCV000770489 OR RCV002054441 OR RCV004532357" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015148, RCV000158573, RCV000197762, RCV000252292, RCV000762922, RCV000770489, RCV002054441, RCV004532357" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015148...</a>
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<p>See <a href="#0002">160760.0002</a>. <a href="#86" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>] [<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552912">Watkins et al. (1992)</a> found this mutation in 1 family with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>). The mutation was found in exon 23 by RNase protection assay. It occurred as a new mutation in a 44-year-old female; the parents lacked the mutation which, however, was transmitted to her 24-year-old daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913629;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>See <a href="#0002">160760.0002</a>. <a href="#86" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>] [<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552912">Watkins et al. (1992)</a> found this mutation in 1 family with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913630 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913630;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913630?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015151 OR RCV000035772 OR RCV000158516 OR RCV000253053 OR RCV000462477 OR RCV001186219 OR RCV002496365" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015151, RCV000035772, RCV000158516, RCV000253053, RCV000462477, RCV001186219, RCV002496365" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015151...</a>
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<p>Among 7 individuals with sporadic hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), <a href="#87" class="mim-tip-reference" title="Watkins, H., Thierfelder, L., Hwang, D.-S., McKenna, W., Seidman, J. G., Seidman, C. E. <strong>Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.</strong> J. Clin. Invest. 90: 1666-1671, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1430197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1430197</a>] [<a href="https://doi.org/10.1172/JCI116038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1430197">Watkins et al. (1992)</a> identified mutations in the beta cardiac MHC genes in 2. Since the parents were neither clinically nor genetically affected, the authors concluded that the mutations in each proband arose de novo. Transmission of the mutation and disease to an offspring occurred in 1 pedigree (<a href="#0006">160760.0006</a>), predicting that these were germline mutations. One proband, a 40-year-old female, was shown by RNase protection assay to have a C-to-T transition in exon 20 at nucleotide 2253, leading to a change from arginine to cysteine at codon 723. Arginine residue 723 is conserved among all known cardiac MHCs and all vertebrate striated muscle MHCs except the human perinatal and rabbit skeletal isoforms; mutation of a cysteine residue constitutes a nonconservative substitution with a change in net charge. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1430197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, 2.4-KB DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015152" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015152" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015152</a>
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<p>In a family with several members affected with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), <a href="#50" class="mim-tip-reference" title="Marian, A. J., Yu, Q.-T., Mares, A., Jr., Hill, R., Roberts, R., Perryman, M. B. <strong>Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 90: 2156-2165, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361491</a>] [<a href="https://doi.org/10.1172/JCI116101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1361491">Marian et al. (1992)</a> identified a novel 9.5-kb BamHI RFLP detected by an MYH7 probe on Southern blots of DNA from the proband. PCR was used to amplify the segment of the gene; sequence analysis showed a 2.4-kb deletion involving 1 allele. The deletion included part of intron 39, exon 40 including the 3-prime untranslated region and the polyadenylation signal, and part of the region between the beta and alpha myosin heavy chain genes. The deletion was inherited by 2 daughters of the proband and a grandson, aged 33, 32, and 10 years, respectively, who were, however, free of signs of the disorder. The 67-year-old proband had late onset of the disorder which was first diagnosed in him at the age of 59 when he presented with atypical chest pain, lightheadedness, and decreased exercise tolerance. On cardiac examination, he showed an S4 heart sound and a systolic ejection murmur. EKG showed left ventricular hypertrophy with repolarization abnormalities. Ventricular hypertrophy was demonstrated by echocardiogram which also showed systolic anterior motion of the anterior leaflet of the mitral valve. There was a 25-mm Hg left ventricular outflow tract gradient. From observations in C. elegans, it was predicted that an unstable mRNA might result from this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, LEU908VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913631 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913631;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913631?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015153 OR RCV000035820 OR RCV000078452 OR RCV000247943 OR RCV000458449 OR RCV001177579" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015153, RCV000035820, RCV000078452, RCV000247943, RCV000458449, RCV001177579" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015153...</a>
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<p><a href="#21" class="mim-tip-reference" title="Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D. <strong>Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.</strong> Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8483915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8483915</a>] [<a href="https://doi.org/10.1073/pnas.90.9.3993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8483915">Fananapazir et al. (1993)</a> found evidence, on soleus muscle biopsy, of central core disease (<a href="/entry/117000">117000</a>) in 10 of 13 hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) patients with the leu908-to-val mutation. Although the mutations in the MYH7 gene were associated with skeletal muscle changes characteristic of central core disease, such was not found in patients with hypertrophic cardiomyopathy unlinked to MYH7. Notably, in 1 branch of a family with the L908V mutation, 2 adults and 3 children had histologic changes of central core disease without evidence of cardiac hypertrophy by echocardiogram. One of the adults had skeletal myopathic changes. <a href="#53" class="mim-tip-reference" title="McKenna, W. J. <strong>Personal Communication.</strong> London, England 5/30/1993."None>McKenna (1993)</a>, who stated that he had never seen clinical evidence of skeletal myopathy in patients with CMH1, doubted the significance of the findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8483915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, GLY741ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913632 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913632;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913632?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015154 OR RCV000158522 OR RCV000472342 OR RCV000621362 OR RCV001170499 OR RCV002490371" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015154, RCV000158522, RCV000472342, RCV000621362, RCV001170499, RCV002490371" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015154...</a>
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<p>In 1 of 3 patients with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) and the G741R mutation, <a href="#21" class="mim-tip-reference" title="Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D. <strong>Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.</strong> Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8483915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8483915</a>] [<a href="https://doi.org/10.1073/pnas.90.9.3993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8483915">Fananapazir et al. (1993)</a> found microscopic changes of central core disease on soleus muscle biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8483915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0012" class="mim-anchor"></a>
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<strong>.0012 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, GLY256GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913633;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015155 OR RCV000158764 OR RCV000693916 OR RCV002399324" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015155, RCV000158764, RCV000693916, RCV002399324" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015155...</a>
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<p>In 1 patient with the G256E mutation and familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), <a href="#21" class="mim-tip-reference" title="Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D. <strong>Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.</strong> Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8483915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8483915</a>] [<a href="https://doi.org/10.1073/pnas.90.9.3993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8483915">Fananapazir et al. (1993)</a> found histologic changes on soleus muscle biopsy consistent with central core disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8483915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913634 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913634;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015156 OR RCV003586124" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015156, RCV003586124" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015156...</a>
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<p>In 5 unrelated Japanese patients and their affected family members with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), <a href="#29" class="mim-tip-reference" title="Harada, H., Kimura, A., Nishi, H., Sasazuki, T., Toshima, H. <strong>A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.</strong> Biochem. Biophys. Res. Commun. 194: 791-798, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8343162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8343162</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8343162">Harada et al. (1993)</a> used PCR-DNA conformation polymorphism analysis to detect an A-to-G transition at codon 778 leading to replacement of the asp residue by gly (asp778 to gly, D778G). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8343162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, ARG403LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913624 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913624;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015157 OR RCV000158679 OR RCV001381369 OR RCV002345243" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015157, RCV000158679, RCV001381369, RCV002345243" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015157...</a>
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<p>In 2 French pedigrees with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), <a href="#17" class="mim-tip-reference" title="Dausse, E., Komajda, M., Fetler, L., Dubourg, O., Dufour, C., Carrier, L., Wisnewsky, C., Bercovici, J., Hengstenberg, C., Al-Mahdawi, S., Isnard, R., Hagege, A., Bouhour, J.-B., Desnos, M., Beckmann, J., Weissenbach, J., Schwartz, K., Guicheney, P. <strong>Familial hypertrophic cardiomyopathy: microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.</strong> J. Clin. Invest. 92: 2807-2813, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8254035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8254035</a>] [<a href="https://doi.org/10.1172/JCI116900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8254035">Dausse et al. (1993)</a> performed linkage analysis using 2 microsatellite markers located in the MYH7 gene, as well as 4 highly informative markers that mapped to the 14q11-q12 region. Linkage to the markers was found in pedigree 720, but results were not conclusive for pedigree 730. Haplotype of 6 markers allowed identification of affected individuals and of some unaffected subjects who were carrying the disease gene. Two novel missense mutations were identified in exon 13 by direct sequencing: arg403 to leu (R403L) and arg403 to trp (R403W) in families 720 and 730, respectively. The arg403-to-leu mutation was associated with incomplete penetrance, a high incidence of sudden deaths and severe cardiac events, whereas the consequences of the arg403-to-trp mutation appeared to be less severe. Codon 403 of the MYH7 gene appears, therefore, to be a hotspot for mutations causing CMH. The first mutation identified in this disorder involved codon 403 (<a href="#0001">160760.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8254035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs3218714 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3218714;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs3218714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs3218714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015158 OR RCV000158787 OR RCV000456661 OR RCV000515361 OR RCV000621657 OR RCV001170740" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015158, RCV000158787, RCV000456661, RCV000515361, RCV000621657, RCV001170740" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015158...</a>
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<p>See <a href="#0014">160760.0014</a>.</p>
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<strong>.0016 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913636 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913636;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015159" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015159" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015159</a>
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<p>In a family of Japanese ancestry in which a mild form of familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) occurred, <a href="#1" class="mim-tip-reference" title="Anan, R., Greve, G., Thierfelder, L., Watkins, H., McKenna, W. J., Solomon, S., Vecchio, C., Shono, H., Nakao, S., Tanaka, H., Mares, A., Jr., Towbin, J. A., Spirito, P., Roberts, R., Seidman, J. G., Seidman, C. E. <strong>Prognostic implications of novel beta-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 93: 280-285, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282798</a>] [<a href="https://doi.org/10.1172/JCI116957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282798">Anan et al. (1994)</a> found a 1624T-G transversion in exon 15, resulting in a phe513-to-cys (F513C) substitution. The F513C mutation did not alter the charge of the encoded amino acid, which may be related to the finding of near-normal life expectancy in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese proband with CMH (CMH17; <a href="/entry/613873">613873</a>), <a href="#52" class="mim-tip-reference" title="Matsushita, Y., Furukawa, T., Kasanuki, H., Nishibatake, M., Kurihara, Y., Ikeda, A., Kamatani, N., Takeshima, H., Matsuoka, R. <strong>Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.</strong> J. Hum. Genet. 52: 543-548, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17476457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17476457</a>] [<a href="https://doi.org/10.1007/s10038-007-0149-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17476457">Matsushita et al. (2007)</a> identified heterozygosity for a missense mutation in the JPH2 gene (<a href="/entry/605267#0004">605267.0004</a>); subsequent analysis of 15 known CMH-associated genes revealed that the proband also carried 2 heterozygous mutations in MYH7, F513C and A26V. Her newborn son, who had no signs of CMH on echocardiography at 1 day of age, carried both the JPH2 G505S mutation and the MYH7 A26V mutation. The authors suggested that mutations in both JPH2 and MYH7 could be associated with the pathogenesis of CMH in this proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17476457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913637 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913637;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913637?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015160 OR RCV000158512 OR RCV000241836 OR RCV000758071 OR RCV001170501 OR RCV001194067 OR RCV001594372 OR RCV002496366" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015160, RCV000158512, RCV000241836, RCV000758071, RCV001170501, RCV001194067, RCV001594372, RCV002496366" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015160...</a>
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<p>In 4 unrelated families with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) with a high incidence of premature death and an average life expectancy in affected individuals of 38 years, <a href="#1" class="mim-tip-reference" title="Anan, R., Greve, G., Thierfelder, L., Watkins, H., McKenna, W. J., Solomon, S., Vecchio, C., Shono, H., Nakao, S., Tanaka, H., Mares, A., Jr., Towbin, J. A., Spirito, P., Roberts, R., Seidman, J. G., Seidman, C. E. <strong>Prognostic implications of novel beta-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 93: 280-285, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282798</a>] [<a href="https://doi.org/10.1172/JCI116957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282798">Anan et al. (1994)</a> found an R719W mutation in exon 19 changing the charge of the amino acid by -1. The difference in survival of individuals bearing the R719W mutation as compared with those with the F513C mutation (<a href="#0016">160760.0016</a>) was demonstrated by Kaplan-Meier product-limit curves (their Figure 4). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6.5-year-old boy with a severe form of hypertrophic cardiomyopathy, <a href="#38" class="mim-tip-reference" title="Jeschke, B., Uhl, K., Weist, B., Schroder, D., Meitinger, T., Dohlemann, C., Vosberg, H.-P. <strong>A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.</strong> Hum. Genet. 102: 299-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9544842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9544842</a>] [<a href="https://doi.org/10.1007/s004390050695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9544842">Jeschke et al. (1998)</a> identified 2 missense mutations: one was the R719W mutation and the other was an M349T mutation (<a href="#0020">160760.0020</a>), which was inherited through the maternal grandmother. Six family members who were carriers of the M349T mutation were clinically unaffected. The authors hypothesized that compound heterozygosity for the R719W and M349T mutations resulted in the particularly severe phenotype of early onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9544842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0018 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913638 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913638;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015161 OR RCV000158511 OR RCV000233499 OR RCV001170502" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015161, RCV000158511, RCV000233499, RCV001170502" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015161...</a>
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<p>In a small family from the U.K. in which 2 individuals affected by hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) were alive, including one who had been resuscitated after sudden death at age 19, <a href="#1" class="mim-tip-reference" title="Anan, R., Greve, G., Thierfelder, L., Watkins, H., McKenna, W. J., Solomon, S., Vecchio, C., Shono, H., Nakao, S., Tanaka, H., Mares, A., Jr., Towbin, J. A., Spirito, P., Roberts, R., Seidman, J. G., Seidman, C. E. <strong>Prognostic implications of novel beta-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.</strong> J. Clin. Invest. 93: 280-285, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282798</a>] [<a href="https://doi.org/10.1172/JCI116957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282798">Anan et al. (1994)</a> found a G-to-A transition at nucleotide 2232 resulting in a gly716-to-arg (G716R) substitution (charge change = +1) of the encoded amino acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, GLU935LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913639;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015162 OR RCV001851866" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015162, RCV001851866" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015162...</a>
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<p>In 2 brothers with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) who died in their thirties, <a href="#59" class="mim-tip-reference" title="Nishi, H., Kimura, A., Harada, H., Adachi, K., Koga, Y., Sasazuki, T., Toshima, H. <strong>Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy.</strong> Biochem. Biophys. Res. Commun. 200: 549-556, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7909436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7909436</a>] [<a href="https://doi.org/10.1006/bbrc.1994.1483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7909436">Nishi et al. (1994)</a> found a G-to-A transition in codon 935 of the MYH7 gene, leading to a replacement of glutamic acid with lysine. The brothers were homozygous, whereas the parents, who were first cousins, were heterozygous for the mutation and had cardiac hypertrophy without clinical symptoms. An elder sister was also heterozygous for the mutation but did not manifest cardiac hypertrophy. <a href="#59" class="mim-tip-reference" title="Nishi, H., Kimura, A., Harada, H., Adachi, K., Koga, Y., Sasazuki, T., Toshima, H. <strong>Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy.</strong> Biochem. Biophys. Res. Commun. 200: 549-556, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7909436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7909436</a>] [<a href="https://doi.org/10.1006/bbrc.1994.1483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7909436">Nishi et al. (1994)</a> suggested that there was a gene dosage effect on clinical manifestations in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7909436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913640;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913640?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015150 OR RCV000127019 OR RCV000621114 OR RCV000694881 OR RCV001188427 OR RCV002490370" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015150, RCV000127019, RCV000621114, RCV000694881, RCV001188427, RCV002490370" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015150...</a>
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<p>For discussion of a met349-to-thr (M349T) mutation in the MYH7 gene that was found in compound heterozygous state in a patient with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) by <a href="#38" class="mim-tip-reference" title="Jeschke, B., Uhl, K., Weist, B., Schroder, D., Meitinger, T., Dohlemann, C., Vosberg, H.-P. <strong>A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.</strong> Hum. Genet. 102: 299-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9544842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9544842</a>] [<a href="https://doi.org/10.1007/s004390050695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9544842">Jeschke et al. (1998)</a>, see <a href="#0017">160760.0017</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9544842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0021 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, ARG719GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913641 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913641;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015163 OR RCV000158513 OR RCV000250394 OR RCV000468000 OR RCV003486546" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015163, RCV000158513, RCV000250394, RCV000468000, RCV003486546" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015163...</a>
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<p>In a study of mutations causing hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) in 2 South African subpopulations, <a href="#56" class="mim-tip-reference" title="Moolman-Smook, J. C., De Lange, W. J., Bruwer, E. C. D., Brink, P. A., Corfield, V. A. <strong>The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.</strong> Am. J. Hum. Genet. 65: 1308-1320, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521296[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521296">Moolman-Smook et al. (1999)</a> identified an arg719-to-gln (R719Q) mutation in the MYH7 gene. The mutation occurred in a family of white ancestry and had previously been described by <a href="#86" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. <strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>] [<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552912">Watkins et al. (1992)</a> in a Canadian family. The codon is the same as that involved in the arg719-to-trp mutation (<a href="#0017">160760.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10521296+1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 CARDIOMYOPATHY, DILATED, 1S</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913642 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913642;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015164 OR RCV000211832 OR RCV000688025 OR RCV001570405 OR RCV002399325 OR RCV002468970" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015164, RCV000211832, RCV000688025, RCV001570405, RCV002399325, RCV002468970" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015164...</a>
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<p>In a family with familial dilated cardiomyopathy-1S (CMD1S; <a href="/entry/613426">613426</a>), <a href="#40" class="mim-tip-reference" title="Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., Seidman, J. G., Seidman, C. E. <strong>Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.</strong> New Eng. J. Med. 343: 1688-1696, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11106718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11106718</a>] [<a href="https://doi.org/10.1056/NEJM200012073432304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11106718">Kamisago et al. (2000)</a> demonstrated a T-to-C change at nucleotide 1680 in exon 16 of the cardiac beta-myosin heavy chain gene, causing a ser532-to-pro missense mutation. An affected member of this family had received a cardiac transplant cardiac beta-myosin heavy chain gene. An affected member of this family had received a cardiac transplant at 23 years of age. A 20-year-old female suffered postpartum congestive heart failure and sudden death. A female child developed congestive heart failure at 2 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11106718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0023 CARDIOMYOPATHY, DILATED, 1S</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913643;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913643?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015165 OR RCV001213330" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015165, RCV001213330" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015165...</a>
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<p>In a family with familial dilated cardiomyopathy-1S (CMD1S; <a href="/entry/613426">613426</a>), <a href="#40" class="mim-tip-reference" title="Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., Seidman, J. G., Seidman, C. E. <strong>Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.</strong> New Eng. J. Med. 343: 1688-1696, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11106718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11106718</a>] [<a href="https://doi.org/10.1056/NEJM200012073432304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11106718">Kamisago et al. (2000)</a> found a C-to-G transversion at nucleotide 2378 in exon 21 of the cardiac beta-myosin heavy chain gene, causing a phe764-to-leu missense mutation. The 33-year-old father was given a diagnosis of dilated cardiomyopathy at age 11 years. A daughter died suddenly at the age of 2 months. A 4-year-old daughter, diagnosed with dilated cardiomyopathy at the time of birth, was found to have fetal left ventricular dilatation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11106718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0024 CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC</strong>
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MYH7, GLU743ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397516139 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397516139;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397516139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397516139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015166 OR RCV000158524 OR RCV001061140" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015166, RCV000158524, RCV001061140" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015166...</a>
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<p><a href="#18" class="mim-tip-reference" title="Davis, J. S., Hassanzadeh, S., Winitsky, S., Lin, H., Satorius, C., Vemuri, R., Aletras, A. H., Wen, H., Epstein, N. D. <strong>The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.</strong> Cell 107: 631-641, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11733062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11733062</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00586-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11733062">Davis et al. (2001)</a> identified a double point mutation in the MYLK2 gene (<a href="/entry/606566">606566</a>) on the maternal haplotype in a 13-year-old white male proband with early midventricular hypertrophic cardiomyopathy (see CMH1, <a href="/entry/192600">192600</a>). The MYLK2 mutations were ala87 to val (A87V; <a href="/entry/606566#0001">606566.0001</a>) and ala95 to glu (A95E; <a href="/entry/606566#0002">606566.0002</a>). The proband also inherited a glu743-to-asp mutation (E743D) in the beta-myosin gene (MYH7) from his father. Although the son had significant disease at an early age, the father and mother came to medical attention only after the diagnosis of the son. Echocardiographic evaluation showed that both parents had similarly abnormal asymmetrically thickened hearts. The kindred was too small for linkage analysis, and the authors proposed that the mutant MYLK2 may be functionally abnormal and may consequently stimulate cardiac hypertrophy. <a href="#18" class="mim-tip-reference" title="Davis, J. S., Hassanzadeh, S., Winitsky, S., Lin, H., Satorius, C., Vemuri, R., Aletras, A. H., Wen, H., Epstein, N. D. <strong>The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.</strong> Cell 107: 631-641, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11733062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11733062</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00586-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11733062">Davis et al. (2001)</a> concluded that the increased severity of the disease at such a young age in the proband suggests a compound effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11733062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0025 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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MYH7, ALA728VAL AND VAL606MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913644 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913644;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913644?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015147 OR RCV000015167 OR RCV000035750 OR RCV000035776 OR RCV000148699 OR RCV000223823 OR RCV000252267 OR RCV000473084 OR RCV000542451 OR RCV000757528 OR RCV001183232 OR RCV001525146 OR RCV002426505 OR RCV003147290 OR RCV003147293 OR RCV003147294 OR RCV003320032 OR RCV004545730" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015147, RCV000015167, RCV000035750, RCV000035776, RCV000148699, RCV000223823, RCV000252267, RCV000473084, RCV000542451, RCV000757528, RCV001183232, RCV001525146, RCV002426505, RCV003147290, RCV003147293, RCV003147294, RCV003320032, RCV004545730" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015147...</a>
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<p>In a family with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) in which 3 individuals had suffered sudden death, <a href="#8" class="mim-tip-reference" title="Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H. <strong>Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)</strong> J. Med. Genet. 38: 385-387, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424919</a>] [<a href="https://doi.org/10.1136/jmg.38.6.385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424919">Blair et al. (2001)</a> identified a C-to-T transition in exon 20 resulting in an ala728-to-val (A728V) mutation in cis with a val606-to-met (V606M; <a href="#0005">160760.0005</a>) mutation. <a href="#8" class="mim-tip-reference" title="Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H. <strong>Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)</strong> J. Med. Genet. 38: 385-387, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424919</a>] [<a href="https://doi.org/10.1136/jmg.38.6.385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424919">Blair et al. (2001)</a> suggested that the A728V mutation in cis with the V606M mutation was responsible for the more severe phenotype in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0026 CARDIOMYOPATHY, DILATED, 1S</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913645 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913645;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913645?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015168 OR RCV001221707" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015168, RCV001221707" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015168...</a>
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<p>In a series of 46 young patients with dilated cardiomyopathy-1S (CMD1S; <a href="/entry/613426">613426</a>), <a href="#14" class="mim-tip-reference" title="Daehmlow, S., Erdmann, J., Knueppel, T., Gille, C., Froemmel, C., Hummel, M., Hetzer, R., Regitz-Zagrosek, V. <strong>Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.</strong> Biochem. Biophys. Res. Commun. 298: 116-120, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12379228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12379228</a>] [<a href="https://doi.org/10.1016/s0006-291x(02)02374-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12379228">Daehmlow et al. (2002)</a> identified 2 mutations in the MYH7 gene, one of which was a G-to-A transition in exon 8 at nucleotide 7799, resulting in an ala223-to-thr (A223T) substitution. The mutation affected a buried residue near the ATP-binding site. The patient with this mutation was 35 years old when diagnosed with dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12379228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0027 CARDIOMYOPATHY, DILATED, 1S</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913646 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913646;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015169 OR RCV000819604 OR RCV002408466 OR RCV003319167" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015169, RCV000819604, RCV002408466, RCV003319167" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015169...</a>
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<p>In a series of 46 young patients with dilated cardiomyopathy-1S (CMD1S; <a href="/entry/613426">613426</a>), <a href="#14" class="mim-tip-reference" title="Daehmlow, S., Erdmann, J., Knueppel, T., Gille, C., Froemmel, C., Hummel, M., Hetzer, R., Regitz-Zagrosek, V. <strong>Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.</strong> Biochem. Biophys. Res. Commun. 298: 116-120, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12379228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12379228</a>] [<a href="https://doi.org/10.1016/s0006-291x(02)02374-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12379228">Daehmlow et al. (2002)</a> found 2 mutations in the MYH7 gene, one of which was a C-to-T transition in exon 17 at nucleotide 12164, resulting in a ser642-to-leu (S642L) substitution at a highly conserved residue. The mutation occurred at the actin-myosin interface. The patient with this mutation was 18 years old when diagnosed with dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12379228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0028 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28933098 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933098;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28933098?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28933098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28933098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000628936 OR RCV001178343 OR RCV001200588 OR RCV003320033 OR RCV004017246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000628936, RCV001178343, RCV001200588, RCV003320033, RCV004017246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000628936...</a>
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<p>In affected members of a family and in an unrelated patient with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; <a href="/entry/608358">608358</a>) without cardiomyopathy, <a href="#78" class="mim-tip-reference" title="Tajsharghi, H., Thornell, L.-E., Lindberg, C., Lindvall, B., Henriksson, K.-G., Oldfors, A. <strong>Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.</strong> Ann. Neurol. 54: 494-500, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14520662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14520662</a>] [<a href="https://doi.org/10.1002/ana.10693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14520662">Tajsharghi et al. (2003)</a> identified a heterozygous c.23014C-T transition in exon 37 of the MYH7 gene, resulting in an arg1845-to-trp (R1845W) substitution in the distal end of the filament-forming rod region of the protein. <a href="#78" class="mim-tip-reference" title="Tajsharghi, H., Thornell, L.-E., Lindberg, C., Lindvall, B., Henriksson, K.-G., Oldfors, A. <strong>Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.</strong> Ann. Neurol. 54: 494-500, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14520662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14520662</a>] [<a href="https://doi.org/10.1002/ana.10693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14520662">Tajsharghi et al. (2003)</a> suggested that the mutation may interfere with the interaction of MYH7 with myosin-binding proteins and inhibit myosin assembly into thick filaments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14520662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Laing, N. G., Ceuterick-de Groote, C., Dye, D. E., Liyanage, K., Duff, R. M., Dubois, B., Robberecht, W., Sciot, R., Martin, J.-J., Goebel, H. H. <strong>Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.</strong> Neurology 64: 527-529, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699387</a>] [<a href="https://doi.org/10.1212/01.WNL.0000150581.37514.30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15699387">Laing et al. (2005)</a> identified a heterozygous R1845W mutation in 2 unrelated Belgian patients with myosin storage myopathy. Neither patient had a family history of the disease. The mutation was predicted to impair the coiled-coil structure of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15699387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A, <a href="#64" class="mim-tip-reference" title="Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. <strong>MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.</strong> Neuromusc. Disord. 17: 321-329, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17336526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17336526</a>] [<a href="https://doi.org/10.1016/j.nmd.2007.01.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17336526">Pegoraro et al. (2007)</a> identified a heterozygous c.5533C-T transition in the MYH7 gene, resulting in an R1845W substitution. Two affected members of another family (family B) carried the same heterozygous mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Function</em></strong></p><p>
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By functional analysis, <a href="#4" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. <strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong> Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19336582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19336582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0900107106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19336582">Armel and Leinwand (2009)</a> showed that the R1845W mutant protein was nearly indistinguishable from wildtype in both secondary structural characteristics and biophysical parameters. However, compared to the wildtype protein, the mutant protein was unable to assemble to the same extent, formed larger structures, and formed more stable paracrystals. The results suggested that the R1845W mutation alters the interactions between filaments such that their assembly is less constrained, causing the formation of abnormally large, degradation-resistant structures. Similar results were found for H1901L (<a href="#0031">160760.0031</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19336582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0029 LAING DISTAL MYOPATHY</strong>
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MYH7, ARG1500PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913647 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913647;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913647?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000192201 OR RCV000804244 OR RCV003488340" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000192201, RCV000804244, RCV003488340" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000192201...</a>
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<p>In an Australian patient with sporadic Laing distal myopathy (MPD1; <a href="/entry/160500">160500</a>), <a href="#54" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al. (2004)</a> identified an arg1500-to-pro (R1500P) mutation in exon 32 of the MYH7 gene. Mild talipes equinovarus had been noted at birth but corrected itself. By the time the patient was 4 years old, she was noted to have weakness of ankle dorsiflexion. Progressive weakness of legs and hands followed, with involvement of the arms at 11 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913648 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913648;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000192202 OR RCV000526457 OR RCV000599460 OR RCV001814087 OR RCV004984710" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000192202, RCV000526457, RCV000599460, RCV001814087, RCV004984710" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000192202...</a>
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<p>In affected members of previously reported families with Laing distal myopathy (MPD1; <a href="/entry/160500">160500</a>) from Germany (<a href="#85" class="mim-tip-reference" title="Voit, T., Kutz, P., Leube, B., Neuen-Jacob, E., Schroder, J. M., Cavallotti, D., Vaccario, M. L., Schaper, J., Broich, P., Cohn, R., Baethmann, M., Gohlich-Ratmann, G., Scoppetta, C., Herrmann, R. <strong>Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.</strong> Neuromusc. Disord. 11: 11-19, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11166161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11166161</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00158-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11166161">Voit et al., 2001</a>) and mutation. Austria (<a href="#92" class="mim-tip-reference" title="Zimprich, F., Djamshidian, A., Hainfellner, J. A., Budka, H., Zeitlhofer, J. <strong>An autosomal dominant early adult-onset distal muscular dystrophy.</strong> Muscle Nerve 23: 1876-1879, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102913</a>] [<a href="https://doi.org/10.1002/1097-4598(200012)23:12<1876::aid-mus13>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11102913">Zimprich et al., 2000</a>), <a href="#54" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al. (2004)</a> identified deletion of a lysine at position 1617 in exon 34 of the MYH7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11102913+11166161+15322983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0031 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913649 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913649;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003320034" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003320034" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003320034</a>
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<p>In affected members of a Saudi Arabian family with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; <a href="/entry/608358">608358</a>), reported by <a href="#10" class="mim-tip-reference" title="Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J. <strong>Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.</strong> Neurology 61: 1519-1523, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663035</a>] [<a href="https://doi.org/10.1212/01.wnl.0000096022.09887.9d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14663035">Bohlega et al. (2003)</a>, <a href="#9" class="mim-tip-reference" title="Bohlega, S., Abu-Amero, S. N., Wakil, S. M., Carroll, P., Al-Amr, R., Lach, B., Al-Sayed, Y., Cupler, E. J., Meyer, B. F. <strong>Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.</strong> Neurology 62: 1518-1521, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136674</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123255.92062.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136674">Bohlega et al. (2004)</a> identified a c.25596A-T transversion in the MYH7 gene, resulting in a his1904-to-leu (H1904L) substitution in a highly conserved residue in the coiled-coil tail region of the protein. The mutation was not identified in 130 control chromosomes. None of the patients had cardiac abnormalities. The authors noted that the H1904L mutation is adjacent to a critical assembly competent domain and suggested that the mutation may cause improper assembly of the thick filament or interfere with stability of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15136674+14663035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#60" class="mim-tip-reference" title="Oldfors, A., Tajsharghi, H., Thornell, L. E. <strong>Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. (Letter)</strong> Neurology 64: 580-581, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699411</a>] [<a href="https://doi.org/10.1212/wnl.64.3.580-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15699411">Oldfors et al. (2005)</a> used a different numbering system and stated that the mutation described by <a href="#9" class="mim-tip-reference" title="Bohlega, S., Abu-Amero, S. N., Wakil, S. M., Carroll, P., Al-Amr, R., Lach, B., Al-Sayed, Y., Cupler, E. J., Meyer, B. F. <strong>Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.</strong> Neurology 62: 1518-1521, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136674</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123255.92062.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136674">Bohlega et al. (2004)</a> should be HIS1901LEU. They asserted that the histidine at residue 1901 occupies the 'f' position of the heptad repeat of the coiled-coil domain, whereas residue 1904 is not at an 'f' position in the heptad repeat sequence. In response, <a href="#55" class="mim-tip-reference" title="Meyer, B. F. <strong>Reply to Oldfors et al. (Letter)</strong> Neurology 64: 581 only, 2005."None>Meyer (2005)</a> stated that the mutation occupies an 'f' position regardless of the numbering system used. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15699411+15136674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Function</em></strong></p><p>
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By functional analysis, <a href="#4" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. <strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong> Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19336582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19336582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0900107106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19336582">Armel and Leinwand (2009)</a>, who also referred to this mutation as H1901L, indicated that the mutant protein had decreased thermodynamic stability. In addition, the extent of assembly of the tail region was decreased compared to wildtype, and the paracrystals were much larger and more stable than wildtype. The findings suggested that the E1901L mutation alters the interactions between filaments such that larger, more stable structures are formed. Similar results were observed for R1845W (<a href="#0028">160760.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19336582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0032 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913650 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913650;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913650?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015175 OR RCV000480992 OR RCV000546277 OR RCV002345244 OR RCV003151728 OR RCV003319168 OR RCV004532358" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015175, RCV000480992, RCV000546277, RCV002345244, RCV003151728, RCV003319168, RCV004532358" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015175...</a>
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<p><strong><em>Familial Hypertrophic Cardiomyopathy 1</em></strong></p><p>
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In 2 Danish patients with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), <a href="#34" class="mim-tip-reference" title="Hougs, L., Havndrup, O., Bundgaard, H., Kober, L., Vuust, J., Larsen, L. A., Christiansen, M., Andersen, P. S. <strong>One-third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region.</strong> Europ. J. Hum. Genet. 13: 161-165, 2005. Note: Erratum: Europ. J. Hum. Genet. 13: 694 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15483641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15483641</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15483641">Hougs et al. (2005)</a> identified a c.21815C-T transition in exon 35 of the MYH7 gene, resulting in an arg1712-to-trp substitution (R1712W) in the myosin rod region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15483641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Autosomal Recessive Myosin Storage Congenital Myopathy 7B</em></strong></p><p>
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In 2 sibs, born of consanguineous Middle Eastern parents (family AUS1) with autosomal recessive myosin storage myopathy-7B (CMYO7B; <a href="/entry/255160">255160</a>), <a href="#6" class="mim-tip-reference" title="Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A., Jungbluth, H. <strong>Recessive MYH7-related myopathy in two families.</strong> Neuromusc. Disord. 29: 456-467, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31130376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31130376</a>] [<a href="https://doi.org/10.1016/j.nmd.2019.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31130376">Beecroft et al. (2019)</a> identified a homozygous c.5134C-T transition in the MYH7 gene, resulting in an R1712W substitution. The mutation, which was found by panel-based sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. Neither patient had cardiac involvement. Transfection of the mutation into COS7 cells showed that the mutant protein formed small round inclusions, suggesting impaired ability to self-assemble into normal long filaments. Functional studies of myofibers from 1 of the patients showed that type II fibers had increased absolute force compared to control fibers, which may reflect a possible compensatory effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31130376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913651 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913651;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913651?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015176 OR RCV000539828 OR RCV001804733 OR RCV002247341 OR RCV002390109 OR RCV004589514" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015176, RCV000539828, RCV001804733, RCV002247341, RCV002390109, RCV004589514" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015176...</a>
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<p>In a family with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) previously reported by Hengstenberg et al. (<a href="#31" class="mim-tip-reference" title="Hengstenberg, C., Charron, P., Beckmann, J. S., Weissenbach, J., Isnard, R., Komajda, M., Schwartz, K. <strong>Evidence for the existence of a fifth gene causing familial hypertrophic cardiomyopathy. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A1013 only, 1993."None>1993</a>, <a href="#32" class="mim-tip-reference" title="Hengstenberg, C., Charron, P., Isnard, R., Beckmann, J. S., Fetler, L., Desnos, M., Hagege, A., Bouhour, J. B., Souriant, G., Dubourg, O., Schwartz, K., Komajda, M. <strong>Mise en evidence d'un cinquieme locus implique dans les cardiomyopathies hypertrophiques familiales.</strong> Arch. Mal. Coeur. 87: 1655-1662, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7786104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7786104</a>]" pmid="7786104">1994</a>), <a href="#69" class="mim-tip-reference" title="Richard, P., Isnard, R., Carrier, L., Dubourg, O., Donatien, Y., Mathieu, B., Bonne, G., Gary, F., Charron, P., Hagege, A., Komajda, M., Schwartz, K., Hainque, B. <strong>Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.</strong> J. Med. Genet. 36: 542-545, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10424815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10424815</a>]" pmid="10424815">Richard et al. (1999)</a> found that of 8 affected members, 4 had a G-to-A transition in exon 15 of the MYH7 gene, leading to a glu483-to-lys (E483K) substitution; 2 had a G-to-T mutation at codon 1096 of the MYBPC3 gene (<a href="/entry/600958#0014">600958.0014</a>) and 2 were doubly heterozygous for the 2 mutations. The E483K mutation was thought to affect a protein domain involved in actin fixation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10424815+7786104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0034 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs36211715 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs36211715;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs36211715?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs36211715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs36211715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015177 OR RCV000157361 OR RCV000158555 OR RCV000233703 OR RCV000626634 OR RCV001731289 OR RCV004595882 OR RCV004757109" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015177, RCV000157361, RCV000158555, RCV000233703, RCV000626634, RCV001731289, RCV004595882, RCV004757109" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015177...</a>
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<p>In 3 affected members of a large consanguineous Indian kindred with familial hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), <a href="#79" class="mim-tip-reference" title="Tanjore, R. R., Sikindlapuram, A. D., Calambur, N., Thakkar, B., Kerkar, P. G., Nallari, P. <strong>Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. (Letter)</strong> Clin. Genet. 69: 434-436, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16650083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16650083</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00599.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16650083">Tanjore et al. (2006)</a> identified a G-to-A transition in exon 22 of the MYH7 gene, resulting in an arg870-to-his (R870H) substitution in the rod region. The 2 affected homozygotes had asymmetric septal hypertrophy without obstructive outflow, and one of them died of heart failure at age 37 years. The third patient was heterozygous for the R870H mutation and had hypertrophic cardiomyopathy with obstructive outflow. Analysis of family members identified the heterozygous R870H mutation in 18 individuals, of whom 10 were symptomatic. <a href="#79" class="mim-tip-reference" title="Tanjore, R. R., Sikindlapuram, A. D., Calambur, N., Thakkar, B., Kerkar, P. G., Nallari, P. <strong>Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. (Letter)</strong> Clin. Genet. 69: 434-436, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16650083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16650083</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00599.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16650083">Tanjore et al. (2006)</a> estimated the penetrance of the R870H mutation to be 59% in general, whereas 75% of males and 44% of females were clinically symptomatic, suggesting that female mutation carriers have a better prognosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16650083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0035 CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913652;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913652?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015178 OR RCV000156689 OR RCV000766473 OR RCV001068554 OR RCV002482868 OR RCV005000983" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015178, RCV000156689, RCV000766473, RCV001068554, RCV002482868, RCV005000983" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015178...</a>
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<p>In a 44-year-old man, born of second-cousin British parents, with autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; <a href="/entry/255160">255160</a>) and hypertrophic cardiomyopathy, <a href="#76" class="mim-tip-reference" title="Tajsharghi, H., Oldfors, A., Macleod, D. P., Swash, M. <strong>Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.</strong> Neurology 68: 962 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17372140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17372140</a>] [<a href="https://doi.org/10.1212/01.wnl.0000257131.13438.2c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17372140">Tajsharghi et al. (2007)</a> identified a homozygous c.24012G-A transition in exon 38 of the MYH7 gene, resulting in a glu1883-to-lys (E1883K) substitution at a highly conserved residue in the distal end of the filament-forming rod region. The proband had 2 similarly affected sibs who had died at ages 32 years and 57 years of cardiorespiratory failure; muscle biopsies from all 3 sibs showed findings typical for myosin storage myopathy. The unaffected parents were presumed heterozygous carriers of the mutation, and another sib was unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17372140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Function</em></strong></p><p>
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By functional analysis, <a href="#4" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. <strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong> Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19336582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19336582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0900107106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19336582">Armel and Leinwand (2009)</a>, who referred to this mutation as E1886K, showed that the mutant protein had no major differences in secondary structure or biophysical parameters from wildtype. However, that mutant protein had a decreased ability to assemble to the same extent as wildtype, and the paracrystals formed were more readily degraded by proteolysis. The authors concluded that altered packing of the filaments may destabilize them. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19336582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0036 LAING DISTAL MYOPATHY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913653 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913653;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913653?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000035714 OR RCV000192200 OR RCV000767122 OR RCV000777877 OR RCV000989191 OR RCV001087154 OR RCV002496367 OR RCV004984643" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000035714, RCV000192200, RCV000767122, RCV000777877, RCV000989191, RCV001087154, RCV002496367, RCV004984643" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000035714...</a>
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<p>In a Tanzanian boy with Laing distal myopathy (MPD1; <a href="/entry/160500">160500</a>), <a href="#15" class="mim-tip-reference" title="Darin, N., Tajsharghi, H., Ostman-Smith, I., Gilljam, T., Oldfors, A. <strong>New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.</strong> Neurology 68: 2041-2042, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17548557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17548557</a>] [<a href="https://doi.org/10.1212/01.wnl.0000264430.55233.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17548557">Darin et al. (2007)</a> identified a heterozygous 1408C-T transition in the MYH7 gene, resulting in a thr441-to-met (T441M) substitution in the globular head of the myosin heavy chain. The patient had distal muscle weakness in the lower limbs and mild atrial enlargement. <a href="#15" class="mim-tip-reference" title="Darin, N., Tajsharghi, H., Ostman-Smith, I., Gilljam, T., Oldfors, A. <strong>New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.</strong> Neurology 68: 2041-2042, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17548557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17548557</a>] [<a href="https://doi.org/10.1212/01.wnl.0000264430.55233.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17548557">Darin et al. (2007)</a> noted that most patients with Laing myopathy have mutations in the rod region of the protein and suggested that the cardiac involvement in this child may be due to the mutation affecting the globular region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17548557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0037 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED<br />
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LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913654 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913654;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015182 OR RCV000015183 OR RCV000158696 OR RCV001207190 OR RCV003320035" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015182, RCV000015183, RCV000158696, RCV001207190, RCV003320035" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015182...</a>
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<p>In 1 of 2 sibs with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; <a href="/entry/608358">608358</a>) originally reported by <a href="#11" class="mim-tip-reference" title="Cancilla, P. A., Kalyanaraman, K., Verity, M. A., Munsat, T., Pearson, C. M. <strong>Familial myopathy with probable lysis of myofibrils in type 1 fibers.</strong> Neurology 21: 579-585, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4104682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4104682</a>] [<a href="https://doi.org/10.1212/wnl.21.6.579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4104682">Cancilla et al. (1971)</a>, <a href="#20" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. <strong>Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.</strong> Neuromusc. Disord. 16: 357-360, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16684601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16684601</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16684601">Dye et al. (2006)</a> identified a heterozygous c.5378T-C transition in exon 37 of the MYH7 gene, resulting in a leu1793-to-pro (L1793P) substitution in the light meromyosin (LMM) region of the myosin heavy chain tail. The sibs presumably had the disease because of gonadal mosaicism in 1 of the unaffected parents, although this could not be confirmed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16684601+4104682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother with myosin storage myopathy who later developed hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) and in her daughter who had early symptomatic left ventricular noncompaction (LVNC5; see <a href="/entry/613426">613426</a>), <a href="#81" class="mim-tip-reference" title="Uro-Coste, E., Arne-Bes, M.-C., Pellissier, J.-F., Richard, P., Levade, T., Heitz, F., Figarella-Branger, D., Delisle, M.-B. <strong>Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.</strong> Neuromusc. Disord. 19: 163-166, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19138847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19138847</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.11.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19138847">Uro-Coste et al. (2009)</a> identified heterozygosity for the L1793P mutation in MYH7. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment, and she had some difficulty with heel-walking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Function</em></strong></p><p>
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By functional analysis, <a href="#4" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. <strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong> Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19336582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19336582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0900107106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19336582">Armel and Leinwand (2009)</a> showed that the L1793P mutation did not differ in protein secondary structure or in the alpha-helical content compared to wildtype, but decreased thermodynamic stability compared to wildtype. The L1793P mutation altered the ability of LMM to assemble, presumably because of the increased instability of the molecule. Although the paracrystals formed were similar to wildtype, they were more susceptible to proteolytic cleavage. The authors suggested that the L1793P mutation destabilized the dimer interface under conditions similar to those found in vivo, which affects the ability of LMM to assemble properly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19336582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606911 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606911;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606911?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015184 OR RCV000204929 OR RCV000223873 OR RCV000250089 OR RCV001170512 OR RCV002054442 OR RCV005007852" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015184, RCV000204929, RCV000223873, RCV000250089, RCV001170512, RCV002054442, RCV005007852" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015184...</a>
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<p>In affected members of a family with hypertrophic cardiomyopathy-1 (CMH1; <a href="/entry/192600">192600</a>), <a href="#2" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> identified heterozygosity for a glu497-to-asp (E497D) substitution in the MYH7 gene. The proband had apical hypertrophy with associated electrocardiographic changes of left ventricular hypertrophy and deeply inverted precordial T waves, whereas a family member with concurrent coronary artery disease who carried the mutation had massive concentric hypertrophy with an interventricular septal thickness of 29 mm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015185 OR RCV000035817 OR RCV000158569 OR RCV000469895 OR RCV000617405 OR RCV000762923 OR RCV001181317" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015185, RCV000035817, RCV000158569, RCV000469895, RCV000617405, RCV000762923, RCV001181317" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015185...</a>
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<p>In 2 sibs with hypertrophic cardiomyopathy-1 (CMH1; <a href="/entry/192600">192600</a>), <a href="#2" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> identified heterozygosity for an asp906-to-gly (D906G) substitution in the MYH7 gene. The proband had apical hypertrophy, whereas the sib, who had sudden death at 45 years of age, was found on necropsy to have massive asymmetrical left ventricular hypertrophy with an interventricular septal thickness greater than 30 mm and a posterior left ventricular wall that was 18 mm thick. <a href="#2" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> noted that the D906G mutation had previously been identified by <a href="#33" class="mim-tip-reference" title="Ho, C. Y., Sweitzer, N. K., McDonough, B., Maron, B. J., Casey, S. A., Seidman, J. G., Seidman, C. E., Solomon, S. D. <strong>Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.</strong> Circulation 105: 2992-2997, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12081993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12081993</a>] [<a href="https://doi.org/10.1161/01.cir.0000019070.70491.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12081993">Ho et al. (2002)</a> in 22 affected members of a CMH family with a range of maximum left ventricular wall thickness of 13 to 29 mm; none had apical hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12081993+16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015186 OR RCV000015187 OR RCV000472129 OR RCV000514633 OR RCV000656213 OR RCV001618213 OR RCV002381250" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015186, RCV000015187, RCV000472129, RCV000514633, RCV000656213, RCV001618213, RCV002381250" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015186...</a>
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<p>In a 40-year-old man with hypertrophic cardiomyopathy-1 (CMH1; <a href="/entry/192600">192600</a>) who presented with presyncope and was found to have apical hypertrophy, <a href="#2" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. <strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong> Circulation 112: 2805-2811, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16267253">Arad et al. (2005)</a> identified heterozygosity for an arg243-to-his (R243H) substitution in the MYH7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a 3-generation family segregating autosomal dominant left ventricular noncompaction but no other congenital heart anomalies (LVNC5; see <a href="/entry/613426">613426</a>), previously studied by <a href="#72" class="mim-tip-reference" title="Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R., Thierfelder, L. <strong>Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.</strong> Am. J. Med. Genet. 119A: 162-167, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12749056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12749056</a>] [<a href="https://doi.org/10.1002/ajmg.a.20075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12749056">Sasse-Klaassen et al. (2003)</a> as 'family INVM-107,' <a href="#42" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. <strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong> Circulation 117: 2893-2901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18506004">Klaassen et al. (2008)</a> identified heterozygosity for an 814G-A transition in the MYH7 gene, resulting in the R243H substitution. Noncompaction in all 4 affected individuals involved the apex and mid-left ventricular wall, and the right ventricle was involved as well in 2 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12749056+18506004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs730880850 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880850;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs730880850?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730880850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730880850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015188 OR RCV000158758 OR RCV000214568 OR RCV000477002 OR RCV001256089 OR RCV001542486 OR RCV003298034 OR RCV004799177" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015188, RCV000158758, RCV000214568, RCV000477002, RCV001256089, RCV001542486, RCV003298034, RCV004799177" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015188...</a>
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<p>In affected members of 2 families segregating autosomal dominant left ventricular noncompaction but no other congenital heart anomalies (LVNC5; see <a href="/entry/613426">613426</a>), 1 of which was previously studied by <a href="#72" class="mim-tip-reference" title="Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R., Thierfelder, L. <strong>Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.</strong> Am. J. Med. Genet. 119A: 162-167, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12749056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12749056</a>] [<a href="https://doi.org/10.1002/ajmg.a.20075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12749056">Sasse-Klaassen et al. (2003)</a> as 'family INVM-101,' <a href="#42" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. <strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong> Circulation 117: 2893-2901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18506004">Klaassen et al. (2008)</a> identified heterozygosity for an 818+1G-A transition at the splice donor site in intron 8 of the MYH7 gene. The mutation segregated with disease in both families; haplotype analysis ruled out a founding mutation. Clinical evaluation in both families was remarkable for the very pronounced morphology of LVNC. The proband of family INVM-101 was diagnosed because of inverted T-waves and later had a stroke and systemic peripheral emboli, whereas his brother initially presented with decompensated heart failure and pulmonary emboli; both patients remained stable over a period of 8 years. Other affected members of family INVM-101 fulfilled morphologic LVNC criteria but were clinically asymptomatic. The proband of the other family was diagnosed because of atypical chest pain; he and his affected 8-year-old son had no signs of heart failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12749056+18506004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0042 LEFT VENTRICULAR NONCOMPACTION 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606909 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606909;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606909?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015189 OR RCV001526036 OR RCV003586125" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015189, RCV001526036, RCV003586125" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015189...</a>
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<p>In a 20-year-old man with left ventricular noncompaction but no other congenital heart anomalies (LVNC5; see <a href="/entry/613426">613426</a>), <a href="#42" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. <strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong> Circulation 117: 2893-2901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18506004">Klaassen et al. (2008)</a> identified heterozygosity for a de novo 5382G-A transition in exon 37 of the MYH7 gene, resulting in an ala1766-to-thr (A1766T) substitution. The proband was initially diagnosed due to arrhythmias on routine electrocardiogram, but his left ventricular systolic function subsequently deteriorated over a period of 6 years; sustained ventricular tachycardia resulted in implantation of an intracardiac defibrillator. The mutation was not present in his unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18506004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0043 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913625 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913625;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015190 OR RCV000154254 OR RCV001618214" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015190, RCV000154254, RCV001618214" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015190...</a>
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<p>In a 32-year-old African American woman with severe hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) and a family history of CMH and sudden cardiac death, <a href="#23" class="mim-tip-reference" title="Frazier, A., Judge, D. P., Schulman, S. P., Johnson, N., Holmes, K. W., Murphy, A. M. <strong>Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.</strong> Pediat. Cardiol. 29: 846-850, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18175163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18175163</a>] [<a href="https://doi.org/10.1007/s00246-007-9177-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18175163">Frazier et al. (2008)</a> identified heterozygosity for a 1357C-A transversion in exon 14 of the MYH7 gene, resulting in an arg453-to-ser (R453S) substitution, as well as a heterozygous missense mutation in the TNNI3 gene (<a href="/entry/191044#0003">191044.0003</a>). Her affected 8-year-old daughter carried only the heterozygous MYH7 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18175163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0044 LAING DISTAL MYOPATHY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs367543052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367543052;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs367543052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs367543052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000034922 OR RCV000035952 OR RCV000628918 OR RCV002336112" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000034922, RCV000035952, RCV000628918, RCV002336112" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000034922...</a>
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<p>In affected members of an Italian American family with Laing distal myopathy (MPD1; <a href="/entry/160500">160500</a>) reported by <a href="#30" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a>, <a href="#54" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al. (2004)</a> identified a heterozygous 3-bp deletion of 1 of 3 consecutive AAG triplets in exon 36 of the MYH7 gene, resulting in the deletion of lys1729 (lys1729del). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15322983+12975303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#57" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Garces-Sanchez, M., Azorin, I., Suominen, T., Sevilla, T., Mayordomo, F., Gomez, L., Marti, P., Maria Millan, J., Udd, B., Vilchez, J. J. <strong>MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.</strong> Neurology 75: 732-741, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20733148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20733148</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181eee4d5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20733148">Muelas et al. (2010)</a> identified the lys1729del mutation in 29 clearly affected individuals from 4 unrelated families in the Safor region of Spain. There was great phenotypic variability. The age at onset ranged from congenital to 50 years, with a mean of 14 years. All patients presented with weakness of great toe/ankle dorsiflexors, and many had associated neck flexor (78%), finger extensor (78%), mild facial (70%), or proximal muscle (65%) weakness. Five patients had cardiac abnormalities, including dilated cardiomyopathy, left ventricular relaxation impairment, and conduction abnormalities. The spectrum of disability ranged from asymptomatic to wheelchair-confined, but life expectancy was not affected. EMG showed myopathic and neurogenic features, and muscle biopsies showed fiber type disproportion, core/minicore lesions, and mitochondrial abnormalities. These findings expanded the phenotypic spectrum of Laing myopathy, but the wide spectrum associated with a single mutation was noteworthy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20733148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Suominen, T., Espinos, C., Garces-Sanchez, M., Sevilla, T., Azorin, I., Millan, J. M., Udd, B., Vilchez, J. J. <strong>Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.</strong> Clin. Genet. 81: 491-494, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21395566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21395566</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01667.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21395566">Muelas et al. (2012)</a> identified a common 41.2-kb short haplotype including the lys1729del mutation in both Spanish patients from the Safor region and in the Italian American family reported by <a href="#30" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a>, indicating a founder effect. However, microsatellite markers both up- and downstream of the mutation did not match, indicating multiple recombination events. The mutation was estimated to have been introduced into the Safor population about 375 to 420 years ago (15 generations ago). The region is located in the southeast of Valencia on the Mediterranean coast of Spain. <a href="#58" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Suominen, T., Espinos, C., Garces-Sanchez, M., Sevilla, T., Azorin, I., Millan, J. M., Udd, B., Vilchez, J. J. <strong>Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.</strong> Clin. Genet. 81: 491-494, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21395566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21395566</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01667.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21395566">Muelas et al. (2012)</a> hypothesized that the families from Safor were descendants of the Genoese who had repopulated this Spanish region in the 17th century after the Muslims were expelled; in fact, many of the surnames of the Safor families with Laing myopathy had an Italian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21395566+12975303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0045 LEFT VENTRICULAR NONCOMPACTION 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515482 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515482;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397515482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056316 OR RCV002054899" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056316, RCV002054899" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056316...</a>
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<p>In affected individuals from 2 white families of western European descent segregating autosomal dominant left ventricular noncompaction (LVNC5; <a href="/entry/613426">613426</a>), <a href="#66" class="mim-tip-reference" title="Postma, A. V., van Engelen, K., van de Meerakker, J., Rahman, T., Probst, S., Baars, M. J. H., Bauer, U., Pickardt, T., Sperling, S. R., Berger, F., Moorman, A. F. M., Mulder, B. J. M., Thierfelder, L., Keavney, B., Goodship, J., Klaassen, S. <strong>Mutations in the sarcomere gene MYH7 in Ebstein anomaly.</strong> Circ. Cardiovasc. Genet. 4: 43-50, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21127202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21127202</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.110.957985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21127202">Postma et al. (2011)</a> identified heterozygosity for a mutation at nucleotide 933 in exon 10 of the MYH7 gene, resulting in a tyr283-to-asp (Y283D) substitution at a highly conserved residue. The mutation segregated with disease in both families and was not found in more than 980 ethnically matched control chromosomes. The 2 probands had other cardiac malformations in addition to LVNC, including Ebstein anomaly in both as well as type II atrial septal defect in 1 and pulmonary artery hypoplasia in the other. One family had 5 more affected individuals over 3 generations, 2 of whom had other cardiac malformations, including Ebstein anomaly in 1 and perimembranous ventricular septal defect in 1; 2 of the patients had only mild left ventricular apical hypertrabeculation. In the other family, the proband's asymptomatic mutation-positive father was found to have LVNC by screening echocardiography; in addition, a paternal aunt was reported to have heart failure, and the paternal grandfather had received an implantable cardioverter-defibrillator. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21127202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0046 LEFT VENTRICULAR NONCOMPACTION 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs138110910 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138110910;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs138110910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs138110910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056317" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056317" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056317</a>
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<p>In 4 affected individuals over 3 generations of a white family of western European descent with left ventricular noncompaction (LVNC5; <a href="/entry/613426">613426</a>), <a href="#66" class="mim-tip-reference" title="Postma, A. V., van Engelen, K., van de Meerakker, J., Rahman, T., Probst, S., Baars, M. J. H., Bauer, U., Pickardt, T., Sperling, S. R., Berger, F., Moorman, A. F. M., Mulder, B. J. M., Thierfelder, L., Keavney, B., Goodship, J., Klaassen, S. <strong>Mutations in the sarcomere gene MYH7 in Ebstein anomaly.</strong> Circ. Cardiovasc. Genet. 4: 43-50, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21127202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21127202</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.110.957985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21127202">Postma et al. (2011)</a> identified heterozygosity for a mutation in exon 39 of the MYH7 gene, resulting in an asn1918-to-lys (N1918K) substitution at a conserved residue. The mutation segregated with disease in the family and was not found in more than 980 ethnically matched control chromosomes. In addition to marked LVNC, the 39-year-old proband exhibited Ebstein anomaly, which was discovered upon evaluation of a cardiac murmur at 3 years of age. She remained asymptomatic despite significant tricuspid regurgitation from age 30 years. She had a mutation-positive son with bicuspid aortic valve and aortic coarctation in whom echocardiography at age 5 years also showed LVNC. Her asymptomatic mutation-positive mother and brother were both found to have LVNC by echocardiography, and her brother also had LV dilation with dysfunction. In an asymptomatic mutation-positive cousin, cardiomyopathy could not be ruled out due to poor imaging quality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21127202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0047 CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs145734640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145734640;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs145734640?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs145734640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs145734640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000158703 OR RCV000172878 OR RCV000685507 OR RCV002345540 OR RCV002484981 OR RCV003320122" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000158703, RCV000172878, RCV000685507, RCV002345540, RCV002484981, RCV003320122" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000158703...</a>
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<p>In 2 Turkish brothers, born of related parents, with autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; <a href="/entry/255160">255160</a>), who were originally reported by <a href="#61" class="mim-tip-reference" title="Onengut, S., Ugur, S. A., Karasoy, H., Yuceyar, N., Tolun, A. <strong>Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.</strong> Neuromusc. Disord. 14: 4-9, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14659406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14659406</a>] [<a href="https://doi.org/10.1016/s0960-8966(03)00163-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14659406">Onengut et al. (2004)</a>, <a href="#91" class="mim-tip-reference" title="Yuceyar, N., Ayhan, O., Karasoy, H., Tolun, A. <strong>Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.</strong> Neuromusc. Disord. 25: 340-344, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25666907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25666907</a>] [<a href="https://doi.org/10.1016/j.nmd.2015.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25666907">Yuceyar et al. (2015)</a> identified a homozygous c.5458C-T transition in exon 37 of the MYH7 gene, resulting in an arg1820-to-trp (R1820W) substitution. The mutation, which was found by linkage analysis and candidate gene sequencing, segregated with the disorder in the family and was not found in 353 Turkish controls or in the Exome Variant Server database. Functional studies of the variant were not performed. Both patients had young adult onset of scapuloperoneal weakness and atrophy; 1 brother developed severe dilated cardiomyopathy in his forties, whereas the other had milder cardiac symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25666907+14659406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0048 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs367543053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367543053;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs367543053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs367543053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000034923 OR RCV000707184 OR RCV003320038" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000034923, RCV000707184, RCV003320038" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000034923...</a>
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<p>In 12 affected members of a 5-generation Spanish family previously reported by <a href="#74" class="mim-tip-reference" title="Sobrido, M. J., Fernandez, J. M., Fontoira, E., Perez-Sousa, C., Cabello, A., Castro, M., Teijeira, S., Alvarez, S., Mederer, S., Rivas, E., Seijo-Martinez, M., Navarro, C. <strong>Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.</strong> Brain 128: 1716-1727, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15857933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15857933</a>] [<a href="https://doi.org/10.1093/brain/awh511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15857933">Sobrido et al. (2005)</a> with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; <a href="/entry/608358">608358</a>), <a href="#62" class="mim-tip-reference" title="Ortolano, S., Tarrio, R., Blanco-Arias, P., Teijeira, S., Rodriguez-Trelles, F., Garcia-Murias, M., Delague, V., Levy, N., Fernandez, J. M., Quintans, B., Millan, B. S., Carracedo, A., Navarro, C., Sobrido, M.-J. <strong>A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.</strong> Neuromusc. Disord. 21: 254-262, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288719</a>] [<a href="https://doi.org/10.1016/j.nmd.2010.12.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288719">Ortolano et al. (2011)</a> identified a heterozygous c.5807A-G transition (c.5807A-G, NM_000257.2) in exon 40 of the MYH7 gene, changing the termination codon to a tryptophan-encoding sequence that was predicted to elongate the protein with 31 additional residues at the C-terminal tail of the protein (Ter1936TrpfsTer32). The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in the family. It was not present in 202 population controls. Skeletal muscle samples were available from 3 patients (at ages 25, 43, and 62). All showed features of congenital fiber type disproportion, and the oldest patient demonstrated subsarcolemmal hyaline accumulation in type I muscle fibers, suggesting that the pathologic findings can change over time. Two samples studied had normal expression of type I and II myosin heavy chains, but only the younger patient showed decreased MYH7 transcript levels compared to controls. The patients had an early-onset, slowly progressive predominantly proximal skeletal myopathy with mild distal involvement and no signs of cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21288719+15857933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1892204411 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1892204411;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1892204411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1892204411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001066184 OR RCV003228801 OR RCV003372978" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001066184, RCV003228801, RCV003372978" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001066184...</a>
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<p>In a 30-year-old woman (family UK1) with autosomal recessive myosin storage myopathy-7B (CMYO7B; <a href="/entry/255160">255160</a>), <a href="#6" class="mim-tip-reference" title="Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A., Jungbluth, H. <strong>Recessive MYH7-related myopathy in two families.</strong> Neuromusc. Disord. 29: 456-467, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31130376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31130376</a>] [<a href="https://doi.org/10.1016/j.nmd.2019.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31130376">Beecroft et al. (2019)</a> identified compound heterozygous mutations in the MYH7 gene: a c.4699C-T transition, resulting in a gln1567-to-ter (Q1567X) substitution, and a c.4664A-G transition, resulting in a glu1555-to-gly (E1555G; <a href="#0050">160760.0050</a>) substitution at a conserved residue in the rod domain. The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were each inherited from an unaffected parent. Neither mutation was present in the gnomAD database. Functional studies of the variants were not performed. The patient had mildly delayed walking, proximal muscle weakness of the upper and lower limbs, distal muscle weakness, reduced muscle bulk, poor feeding, and progressive nocturnal hypoventilation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31130376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730880805 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880805;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs730880805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs730880805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000158665 OR RCV003228795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000158665, RCV003228795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000158665...</a>
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<p>For discussion of the c.4664A-G transition in the MYH7 gene, resulting in a glu1555-to-gly (E1555G) substitution, that was found in compound heterozygous state in a patient with autosomal recessive myosin storage myopathy-7B (CMYO7B; <a href="/entry/255160">255160</a>) by <a href="#6" class="mim-tip-reference" title="Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A., Jungbluth, H. <strong>Recessive MYH7-related myopathy in two families.</strong> Neuromusc. Disord. 29: 456-467, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31130376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31130376</a>] [<a href="https://doi.org/10.1016/j.nmd.2019.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31130376">Beecroft et al. (2019)</a>, see <a href="#0049">160760.0049</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31130376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Kurabayashi1988" class="mim-tip-reference" title="Kurabayashi, M., Tsuchimochi, H., Komuro, I., Takaku, F., Yazaki, Y. <strong>Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones: regulation of expression during development and pressure overload in human atrium.</strong> J. Clin. Invest. 82: 524-531, 1988.">Kurabayashi et al. (1988)</a>; <a href="#Saez1987" class="mim-tip-reference" title="Saez, L. J., Gianola, K. M., McNally, E. M., Feghali, R., Eddy, R., Shows, T. B., Leinwand, L. A. <strong>Human cardiac myosin heavy chain genes and their linkage in the genome.</strong> Nucleic Acids Res. 15: 5443-5459, 1987.">Saez et al. (1987)</a>
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Anan, R., Greve, G., Thierfelder, L., Watkins, H., McKenna, W. J., Solomon, S., Vecchio, C., Shono, H., Nakao, S., Tanaka, H., Mares, A., Jr., Towbin, J. A., Spirito, P., Roberts, R., Seidman, J. G., Seidman, C. E.
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<strong>Prognostic implications of novel beta-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.</strong>
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J. Clin. Invest. 93: 280-285, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI116957" target="_blank">Full Text</a>]
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Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E.
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<strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong>
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Circulation 112: 2805-2811, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank">Full Text</a>]
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Arai, S., Matsuoka, R., Hirayama, K., Sakurai, H., Tamura, M., Ozawa, T., Kimura, M., Imamura, S., Furutani, Y., Joh-o, K., Kawana, M., Takao, A., Hosoda, S., Momma, K.
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<strong>Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.</strong>
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Am. J. Med. Genet. 58: 267-276, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8533830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8533830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8533830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Armel, T. Z., Leinwand, L. A.
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<strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong>
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Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19336582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19336582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19336582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bashyam, M. D., Savithri, G. R., Kumar, M. S., Narasimhan, C., Nallari, P.
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<strong>Molecular genetics of familial hypertrophic cardiomyopathy (FHC).</strong>
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J. Hum. Genet. 48: 55-64, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12601548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12601548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12601548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A., Jungbluth, H.
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<strong>Recessive MYH7-related myopathy in two families.</strong>
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Neuromusc. Disord. 29: 456-467, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31130376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31130376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31130376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI119197" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.38.6.385" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000123255.92062.37" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000096022.09887.9d" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.21.6.579" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI116530" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(02)02374-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000264430.55233.72" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00246-007-9177-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI1940" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000257131.13438.2c" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.10693" target="_blank">Full Text</a>]
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Yuceyar, N., Ayhan, O., Karasoy, H., Tolun, A.
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|
<strong>Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.</strong>
|
|
Neuromusc. Disord. 25: 340-344, 2015.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25666907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25666907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25666907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2015.01.007" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="92" class="mim-anchor"></a>
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<a id="Zimprich2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Zimprich, F., Djamshidian, A., Hainfellner, J. A., Budka, H., Zeitlhofer, J.
|
|
<strong>An autosomal dominant early adult-onset distal muscular dystrophy.</strong>
|
|
Muscle Nerve 23: 1876-1879, 2000.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1097-4598(200012)23:12<1876::aid-mus13>3.0.co;2-a" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 03/21/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/08/2023<br>Ada Hamosh - updated : 06/07/2017<br>Cassandra L. Kniffin - updated : 6/2/2015<br>Ada Hamosh - updated : 4/28/2014<br>Ada Hamosh - updated : 1/29/2014<br>Marla J. F. O'Neill - updated : 10/9/2013<br>Marla J. F. O'Neill - updated : 9/4/2013<br>Cassandra L. Kniffin - updated : 5/3/2012<br>Marla J. F. O'Neill - updated : 4/7/2011<br>Cassandra L. Kniffin - updated : 10/26/2010<br>Patricia A. Hartz - updated : 10/6/2010<br>Ada Hamosh - updated : 9/27/2010<br>Marla J. F. O'Neill - updated : 8/5/2010<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Cassandra L. Kniffin - updated : 10/14/2009<br>Victor A. McKusick - updated : 2/19/2008<br>Cassandra L. Kniffin - updated : 1/7/2008<br>Marla J. F. O'Neill - updated : 12/4/2007<br>Marla J. F. O'Neill - updated : 11/21/2007<br>Ada Hamosh - updated : 6/4/2007<br>Cassandra L. Kniffin - updated : 5/31/2006<br>Marla J. F. O'Neill - updated : 2/23/2006<br>Carol A. Bocchini - updated : 8/12/2005<br>Marla J. F. O'Neill - updated : 7/13/2005<br>Cassandra L. Kniffin - updated : 6/27/2005<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Victor A. McKusick - updated : 4/11/2005<br>Cassandra L. Kniffin - updated : 1/25/2005<br>Victor A. McKusick - updated : 9/9/2004<br>Victor A. McKusick - updated : 1/15/2004<br>Cassandra L. Kniffin - updated : 12/24/2003<br>Victor A. McKusick - updated : 5/9/2003<br>Victor A. McKusick - updated : 3/7/2003<br>Victor A. McKusick - updated : 11/5/2002<br>Michael J. Wright - updated : 8/2/2002<br>Stylianos E. Antonarakis - updated : 12/17/2001<br>Victor A. McKusick - updated : 1/4/2001<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 11/15/1999<br>Victor A. McKusick - updated : 5/18/1998<br>Clair A. Francomano - updated : 5/7/1998
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</span>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/07/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/16/2024<br>alopez : 04/12/2024<br>mgross : 03/21/2024<br>alopez : 03/08/2023<br>ckniffin : 03/08/2023<br>alopez : 10/14/2019<br>carol : 10/11/2019<br>alopez : 06/07/2017<br>alopez : 11/07/2016<br>carol : 03/03/2016<br>carol : 6/9/2015<br>carol : 6/9/2015<br>mcolton : 6/2/2015<br>ckniffin : 6/2/2015<br>alopez : 4/28/2014<br>alopez : 1/29/2014<br>carol : 10/9/2013<br>carol : 10/8/2013<br>carol : 9/4/2013<br>carol : 4/1/2013<br>terry : 5/10/2012<br>carol : 5/9/2012<br>ckniffin : 5/3/2012<br>mgross : 8/9/2011<br>wwang : 4/7/2011<br>terry : 4/7/2011<br>wwang : 11/29/2010<br>ckniffin : 10/26/2010<br>mgross : 10/25/2010<br>mgross : 10/25/2010<br>mgross : 10/25/2010<br>terry : 10/6/2010<br>alopez : 9/28/2010<br>alopez : 9/28/2010<br>alopez : 9/28/2010<br>terry : 9/27/2010<br>wwang : 8/9/2010<br>terry : 8/5/2010<br>carol : 6/8/2010<br>carol : 6/8/2010<br>carol : 6/7/2010<br>carol : 6/7/2010<br>wwang : 10/26/2009<br>ckniffin : 10/14/2009<br>ckniffin : 10/14/2009<br>terry : 3/4/2009<br>alopez : 2/21/2008<br>alopez : 2/21/2008<br>alopez : 2/20/2008<br>terry : 2/19/2008<br>wwang : 1/17/2008<br>ckniffin : 1/7/2008<br>carol : 12/6/2007<br>carol : 12/4/2007<br>terry : 12/4/2007<br>carol : 11/26/2007<br>terry : 11/21/2007<br>carol : 9/4/2007<br>alopez : 6/15/2007<br>alopez : 6/12/2007<br>terry : 6/4/2007<br>wwang : 6/13/2006<br>ckniffin : 5/31/2006<br>carol : 4/18/2006<br>carol : 2/27/2006<br>joanna : 2/24/2006<br>joanna : 2/24/2006<br>wwang : 2/23/2006<br>terry : 1/17/2006<br>carol : 8/12/2005<br>terry : 7/13/2005<br>carol : 7/1/2005<br>wwang : 6/30/2005<br>ckniffin : 6/27/2005<br>wwang : 6/15/2005<br>wwang : 6/14/2005<br>ckniffin : 6/9/2005<br>wwang : 6/6/2005<br>ckniffin : 5/18/2005<br>wwang : 4/28/2005<br>wwang : 4/20/2005<br>terry : 4/11/2005<br>tkritzer : 2/2/2005<br>ckniffin : 1/25/2005<br>tkritzer : 9/9/2004<br>terry : 9/9/2004<br>cwells : 1/20/2004<br>terry : 1/15/2004<br>tkritzer : 12/31/2003<br>ckniffin : 12/24/2003<br>carol : 5/9/2003<br>terry : 5/9/2003<br>tkritzer : 5/7/2003<br>cwells : 3/12/2003<br>terry : 3/7/2003<br>carol : 11/12/2002<br>carol : 11/12/2002<br>tkritzer : 11/11/2002<br>terry : 11/5/2002<br>tkritzer : 8/2/2002<br>carol : 3/1/2002<br>mgross : 12/17/2001<br>carol : 1/11/2001<br>cwells : 1/11/2001<br>cwells : 1/9/2001<br>terry : 1/4/2001<br>mcapotos : 2/2/2000<br>mcapotos : 2/1/2000<br>terry : 1/19/2000<br>mgross : 11/24/1999<br>terry : 11/15/1999<br>carol : 10/28/1999<br>alopez : 4/30/1999<br>dkim : 12/10/1998<br>carol : 6/9/1998<br>carol : 6/9/1998<br>terry : 5/18/1998<br>alopez : 5/14/1998<br>dholmes : 5/7/1998<br>mark : 3/3/1998<br>mark : 12/26/1996<br>mark : 4/16/1996<br>terry : 4/9/1996<br>mark : 9/14/1995<br>davew : 8/5/1994<br>jason : 6/13/1994<br>warfield : 4/21/1994<br>carol : 4/2/1994<br>carol : 9/24/1993
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</span>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 160760
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MYH7</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 129620000, 764859001;
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<strong>ICD10CM:</strong> G71.09;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 14q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:23,412,740-23,435,660 </span>
|
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</em>
|
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
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<tbody>
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|
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<tr>
|
|
<td rowspan="6">
|
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<span class="mim-font">
|
|
14q11.2
|
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</span>
|
|
</td>
|
|
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<td>
|
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<span class="mim-font">
|
|
Cardiomyopathy, dilated, 1S
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
613426
|
|
</span>
|
|
</td>
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|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Cardiomyopathy, hypertrophic, 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
192600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Digenic dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital myopathy 7A, myosin storage, autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608358
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital myopathy 7B, myosin storage, autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
255160
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Laing distal myopathy
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
160500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Left ventricular noncompaction 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613426
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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<strong>Description</strong>
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<p>The MYH7 gene encodes the beta-cardiac/slow skeletal myosin heavy chain (MyHC-slow), expressed predominantly in the cardiac ventricles and slow skeletal (type 1) myofibers. Myosin acts as a molecular motor through its interaction with actin of the thin filament, which is vital for skeletal muscle force generation (summary by Beecroft et al., 2019). </p>
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<strong>Cloning and Expression</strong>
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<p>The structural gene for the beta heavy chain of myosin is expressed predominantly in fetal life and is switched on in older animals under conditions of thyroid hormone depletion/replacement and in response to some physical stresses. Jandreski et al. (1987) presented evidence indicating that the cardiac beta-myosin heavy chain mRNA is expressed in skeletal muscle tissue. The expression of cardiac beta-myosin heavy chain mRNA was particularly prominent in the soleus muscle, which is rich in slow-twitch type I muscle fibers. There were only trace amounts in the vastus lateralis and vastus medialis, which consist predominantly of fast-twitch type II fibers. </p><p>Diederich et al. (1989) cloned the entire gene. </p><p>By scanning mouse myosin genes for intronic microRNAs (miRNAs), van Rooij et al. (2009) identified Mir208b (613613) within intron 31 of the Myh7 gene. Northern blot analysis showed that Myh7 and Mir208b were highly expressed in mouse slow-twitch soleus muscle. Little to no expression was detected in heart and in the fast-twitch gastrocnemius/plantaris, tibialis anterior, and extensor digitorum longus muscles. However, van Rooij et al. (2009) noted that Myh7 is the predominant myosin in adult heart in large animals, whereas Myh6 (160710) predominates in adult mouse heart. </p>
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<strong>Gene Structure</strong>
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<p>Jaenicke et al. (1990) demonstrated that the MYH7 gene is 22,883 bp long. The 1,935 amino acids of this protein are encoded by 38 exons. The 5-prime untranslated region (86 bp) is split by 2 introns. The 3-prime untranslated region is 114 bp long. Three Alu repeats were identified within the gene and a fourth one in the 3-prime flanking intergenic region. </p><p>Liew et al. (1990) found that like the rat skeletal myosin heavy chain gene, the cardiac beta-myosin heavy chain gene is divided into 41 exons, the first 2 of which are noncoding. However, exons 37 and 38 are fused; they do not have an intervening intron. The gene extends for 21,828 nucleotides and encodes a deduced 1,1939-amino acid protein with a molecular mass of 222,937 Da. </p><p>Van Rooij et al. (2009) identified a microRNA (miRNA), Mir208b (613613), within intron 31 of the mouse Myh7 gene. </p>
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<strong>Mapping</strong>
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<p>Matsuoka et al. (1989) found that both the alpha and the beta human cardiac myosin heavy chain genes are located in the 14cen-q13 region; the assignment was by somatic cell hybridization and in situ hybridization. Qin et al. (1990) localized the MYH7 gene to 14q12 by in situ hybridization. </p><p>The beta cardiac myosin heavy chain is located on chromosome 14, 3.6 kb upstream from the alpha cardiac myosin gene. The 2 genes are oriented in a head-to-tail tandem fashion (Yamauchi-Takihara et al., 1989; Geisterfer-Lowrance et al., 1990). </p>
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<strong>Gene Function</strong>
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<p>Van Rooij et al. (2007) found that miRNA208A (MIR208A; 611116), a cardiac-specific miRNA encoded by intron 27 of the mouse and human MYH6 gene, was required for cardiomyocyte hypertrophy, fibrosis, and expression of Myh7 in response to stress and hypothyroidism in mice. </p><p>Van Rooij et al. (2009) found that expression of Myh7 and its intronically encoded miRNA, Mir208b, was upregulated in mouse heart by hypothyroidism caused by inhibition of triiodothyronine (T3; see 188450) synthesis. This upregulation was reversed by T3 administration. Gain- and loss-of-function experiments in mice showed that expression of Myh7 and Mir208b was controlled by the dominant miRNA in mouse heart, Mir208a. However, van Rooij et al. (2009) noted that, in large animals, Myh7 is the predominant myosin in adult heart. In contrast, the predominant myosin in adult mouse heart is Myh6, the host gene of Mir208a. Thus, van Rooij et al. (2009) suggested that Mir208b, which shares the same seed sequence as Mir208a, may fulfill the function of Mir208a in large animals. </p><p>In mice, adult cardiomyocytes primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6; 160710), whereas embryonic cardiomyocytes express beta-MHC (Myh7). Cardiac stress triggers adult hearts to undergo hypertrophy and a shift from alpha-MHC to fetal beta-MHC expression. Hang et al. (2010) showed that BRG1 (603254), a chromatin-remodeling protein, has a critical role in regulating cardiac growth, differentiation, and gene expression. In embryos, Brg1 promotes myocyte proliferation by maintaining Bmp10 (608748) and suppressing p57(kip2) (600856) expression. It preserves fetal cardiac differentiation by interacting with histone deacetylases (HDACs; see 601241) and poly(ADP ribose) polymerase (PARP; 173870) to repress alpha-MHC and activate beta-MHC. In adults, Brg1 (also known as Smarca4) is turned off in cardiomyocytes. It is reactivated by cardiac stresses and forms a complex with its embryonic partners, HDAC and PARP, to induce a pathologic alpha-MHC-to-beta-MHC shift. Preventing Brg1 reexpression decreases hypertrophy and reverses this MHC switch. BRG1 is activated in certain patients with hypertrophic cardiomyopathy, its level correlating with disease severity and MHC changes. Hang et al. (2010) concluded that their studies showed that BRG1 maintains cardiomyocytes in an embryonic state, and demonstrated an epigenetic mechanism by which 3 classes of chromatin-modifying factors, BRG1, HDAC, and PARP, cooperate to control developmental and pathologic gene expression. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Hypertrophic Cardiomyopathy 1</em></strong></p><p>
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McKenna (1993) estimated that 40 to 50% of cases of hypertrophic cardiomyopathy (CMH; 192600) are due to mutations in the MYH7 gene. He stated that Kaplan-Meier survival curves for these mutations showed that the val606-to-met mutation (160760.0005) was associated with normal survivorship, whereas the arg453-to-cys mutation (160760.0003) was associated with death in about half the affected individuals by age 40 years.</p><p>Anan et al. (1994) presented a schematic of 15 mutations within the MYH7 gene that cause CMH. They described a phe513-to-cys mutation (160760.0016) in which affected family members had near-normal life expectancy, and an arg719-to-trp mutation (160760.0017) in 4 unrelated CMH families with a high incidence of premature death and an average life expectancy in affected individuals of 38 years. They suggested that these findings supported the hypothesis that mutations that alter the charge of the encoded amino acid affects survival more significantly than those that produce a conservative amino acid change. Kelly and Strauss (1994) pointed out that all but one of the known mutations of the MYH7 gene that produce hypertrophic cardiomyopathy result in amino acid substitutions in the protein head or the region in which the head and rod of the molecule intersect. In their Figure 2, they diagrammed the cardiac myosin heavy-chain dimer and the site of the mutations. They suggested that these mutations represent dominant negatives by disturbing contractile function despite the production of a normal protein by the remaining normal allele. Consistent with this conclusion is the finding of Cuda et al. (1993) that mutant beta-myosin separated from the heart muscle in cases of hypertrophic cardiomyopathy of the chromosome 14 type translocate actin filaments with an abnormally low sliding velocity in motility assays in vitro. </p><p>Lankford et al. (1995) compared the contractile properties of single slow-twitch muscle fibers from patients with 3 distinct CMH-causing MYH7 mutations with those from normal controls. Fibers from the gly741-to-arg mutation (160760.0011), located near the binding site of essential light chain, demonstrated decreased maximum velocity of shortening (39% of normal) and decreased isometric force generation (42% of normal). Fibers with the arg403-to-gln mutation (160760.0001) (at the actin interface of myosin) showed lower force/stiffness ratio (56% of normal) and depressed velocity of shortening (50% of normal). Both of these mutation-containing fibers displayed abnormal force-velocity relationships and reduced power output. Fibers from the gly256-to-glu mutation (160760.0012), located at the end of the ATP-binding pocket, had contractile properties that were indistinguishable from normal. Thus, variability was found in the nature and extent of functional impairments in skeletal fibers containing different MYH7 gene mutations, and this variability may correlate with the severity and penetrance of the disease resulting from each mutation. </p><p>Rayment et al. (1995) examined 29 missense mutations in the MYH7 gene that are responsible for 10 to 30% of familial hypertrophic cardiomyopathy cases and analyzed their effects on the 3-dimensional structure of skeletal muscle myosin. Arai et al. (1995) reported a thirtieth missense mutation and stated that these had been found in 49 families worldwide at that time. Almost all were located in the region of the gene coding for the globular head of the molecule and only 1 mutation was found in both Caucasian and Japanese families. </p><p>Seidman (2000) pointed out that correlations between genotype and prognosis in hypertrophic cardiomyopathy is possible. Life expectancy is markedly diminished in individuals with the R719W (160760.0017) and R403Q (160760.0001) mutations in the MYH7 gene but near normal in individuals with the E542Q (600958.0006) and 791insG (600958.0011) mutations in the MYBPC3 gene.</p><p>Woo et al. (2003) screened 70 probands with hypertrophic cardiomyopathy for mutations in the beta-MHC gene. Mutations in this gene were detected in 15 of 70 probands (21%). Eleven mutations were detected, including 4 novel mutations. Median survival was 66 years (95% CI 64 to 77 years) in all affected subjects. There was a significant difference in survival between subjects according to the affected functional domain. Significant independent predictors of decreased survival were the nonconservative missense mutations that affected the actin binding site and those that affected the rod portion of beta-MHC. </p><p>Hougs et al. (2005) screened for mutations in the rod region (exons 24 to 40) of MYH7 in 92 Danish patients with hypertrophic cardiomyopathy. Using capillary electrophoresis single-strand conformation polymorphism, 3 disease-causing mutations of the rod region were identified in 4 patients, including the R1712W (160760.0032) mutation in 2 patients. Two of the patients had already been shown to carry other FHC-associated mutations. </p><p>Arad et al. (2005) identified 2 different MYH7 missense mutations in 2 probands with apical hypertrophy from families in which the mutations also caused other CMH morphologies (see 160760.0038 and 160760.0039, respectively), and 1 in a sporadic patient with apical hypertrophy (R243H; 160760.0040). </p><p>In a Japanese proband with CMH (CMH17; 613873), Matsushita et al. (2007) identified heterozygosity for a missense mutation in the JPH2 gene (605267.0004); subsequent analysis of 15 known CMH-associated genes revealed that the proband also carried 2 mutations in MYH7, F513C (160760.0016) and A26V. The authors suggested that mutations in both JPH2 and MYH7 could be associated with the pathogenesis of CMH in this proband. </p><p>In a 32-year-old African American woman with severe hypertrophic cardiomyopathy and a family history of CMH and sudden cardiac death, Frazier et al. (2008) identified a heterozygous mutation in the TNNI3 gene (P82S; 191044.0003) and a heterozygous mutation in the MYH7 gene (R453S; 160760.0043). </p><p>From 2000 to 2012, Das et al. (2014) studied a total of 136 unrelated hypertrophic cardiomyopathy probands, of which 63 (46%) carried at least 1 pathogenic mutation. MYBPC3 (600958) accounted for 34 patients, or 47%, and MYH7 accounted for 23 patients, or 32%. Together, these gene variants accounted for 79%. In this study, 5 variants in 6 probands (10%) were reclassified: 2 variants of uncertain significance were upgraded to pathogenic, 1 variant of uncertain significance and 1 pathogenic variant were downgraded to benign, and 1 pathogenic variant (found in 2 families) was downgraded to a variant of uncertain significance. Das et al. (2014) concluded that given the rapid growth of genetic information available, periodic reassessment of single-nucleotide variant data is essential in hypertrophic cardiomyopathy. </p><p><strong><em>Dilated Cardiomyopathy 1S</em></strong></p><p>
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Kamisago et al. (2000) performed clinical evaluations in 21 kindreds with familial dilated cardiomyopathy (CMD1S; 613426). In a genomewide linkage study, a genetic locus for mutations associated with dilated cardiomyopathy was identified at chromosome 14q11.2-q13 (maximum lod score = 5.11 at theta = 0.0). Analysis of MYH7 and other genes for sarcomere proteins revealed heterozygous missense mutations in MYH7 in 2 kindreds (S532P, 160760.0022 and P764L, 160760.0023, respectively). Affected individuals had neither antecedent cardiac hypertrophy nor histopathologic findings characteristic of hypertrophy. </p><p>Vikhorev et al. (2017) compared contractility and passive stiffness of cardiac myofibril samples from 3 unrelated patients with dilated cardiomyopathy (DCM) and 2 different truncation mutations in titin (TTN; 188840), 3 unrelated DCM patients with mutations in different contractile proteins (lys36 to gln in TNNI3 (191044.0012), gly159 to asp in TNNC1 (191040.0001), and glu1426 to lys in MYH7), and controls. All 3 contractile protein mutations, but not the titin mutations, had faster relaxation kinetics than controls. Myofibril passive stiffness was reduced by about 38% in all DCM samples compared with controls, but there was no change in maximum force or titin N2BA/N2B isoform ratio, and there was no titin haploinsufficiency. The authors concluded that decreased myofibril passive stiffness, a common feature in all DCM samples, may be a causative of DCM. </p><p><strong><em>Left Ventricular Noncompaction 5</em></strong></p><p>
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Klaassen et al. (2008) analyzed 6 genes encoding sarcomere proteins in 63 unrelated adult probands with left ventricular noncompaction (LVNC) but no other congenital heart anomalies (see LVNC5; 613426), and identified 7 different heterozygous mutations in the MYH7 gene in the probands from 4 families and in 4 sporadic patients (see, e.g., 160760.0040-160760.0042). Klaassen et al. (2008) noted that 5 of the 7 mutations were located within the genomic sequence of exon 8 to exon 9 of MYH7, which appeared to be a cluster for LVNC mutations. </p><p>In a mother with myosin storage myopathy, who later developed CMH, and in her daughter, who had early-symptomatic LVNC, Uro-Coste et al. (2009) identified heterozygosity for the L1793P mutation in MYH7 (160760.0037). </p><p>In an analysis of the MYH7 gene in 141 white probands of western European descent diagnosed with Ebstein anomaly (see 224700), Postma et al. (2011) identified heterozygous mutations in 8 (see, e.g., 160760.0045 and 160760.0046). Of these 8 probands, LVNC was present in 7 and uncertain in 1, whereas none of the 133 mutation-negative probands had LVNC. Evaluation of all available family members of mutation-positive probands revealed 3 families in which additional mutation-positive individuals had cardiomyopathy or congenital heart malformations, including type II atrial septal defect, ventricular septal defect, bicuspid aortic valve, aortic coarctation, and pulmonary artery stenosis/hypoplasia. </p><p>For a detailed discussion of a family with left ventricular noncompaction (LVNC) that segregated with mutations in the MYH7, MKL2 (609463), and NKX2-5 (600584) genes, see LVNC5 (613426).</p><p><strong><em>Laing Distal Myopathy</em></strong></p><p>
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Laing et al. (1995) mapped Laing distal myopathy (MPD1; 160500) to chromosome 14. In affected members of 7 separate families with Laing distal myopathy, Meredith et al. (2004) sequenced the MYH7 gene, a positional candidate for the site of the causative mutation. They identified 5 heterozygous mutations in 6 families (see 160760.0029-160760.0030) and no mutations in the seventh family. All 5 mutations were predicted, by in silico analysis, to disrupt locally the ability of the myosin tail to form a coiled coil, which is its normal structure. The findings demonstrated that heterozygous mutations toward the 3-prime end of MYH7 can cause Laing distal myopathy. </p><p><strong><em>Myosin Storage Congenital Myopathy 7A, Autosomal Dominant</em></strong></p><p>
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In affected members of a family and in an unrelated patient with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; 608358), Tajsharghi et al. (2003) identified a heterozygous missense mutation in the MYH7 gene (R1845W; 160760.0028). </p><p>In affected members of a Saudi Arabian family with autosomal dominant CMYO7A Bohlega et al. (2003), Bohlega et al. (2004) identified a heterozygous mutation in the MYH7 gene (H1904L; 160760.0031). </p><p>In a Belgian patient with myosin storage myopathy, originally reported by Ceuterick et al. (1993), Laing et al. (2005) identified a heterozygous mutation in the MYH7 gene (R1845W; 160760.0028). </p><p>In 1 of the affected sibs with congenital myopathy originally reported by Cancilla et al. (1971), Dye et al. (2006) identified a heterozygous mutation in the MYH7 gene (L1793P; 160760.0037), confirming that the disease in that family was autosomal dominant myosin storage myopathy (CMYO7A). Dye et al. (2006) noted that contact with the family had been lost and DNA studies were performed on archival postmortem sections from the affected sister who died at age 25 years. The sibs presumably had the disease because of gonadal mosaicism in 1 of the unaffected parents, although this could not be confirmed. </p><p>In a large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A, Pegoraro et al. (2007) identified a heterozygous missense mutation in the MYH7 gene (R1845W; 160760.0028). Two affected members of another family (family B) carried the same heterozygous mutation. </p><p>In 12 affected members of a 5-generation Spanish family previously reported by Sobrido et al. (2005) with CMYO7A, Ortolano et al. (2011) identified a heterozygous mutation in the C-terminal region of the MYH7 gene (160760.0048). The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in the family. It was not present in 202 population controls. Two skeletal muscle samples studied had normal expression of type I and II myosin heavy chains, but only a younger patient showed decreased MYH7 transcript levels compared to controls. </p><p>In a mother with myosin storage myopathy, who later developed CMH, and in her daughter, who had early-symptomatic LVNC, Uro-Coste et al. (2009) identified heterozygosity for the L1793P mutation in MYH7 (160760.0037). </p><p>Armel and Leinwand (2009) analyzed the functional effects of 4 different heterozygous MYH7 mutations in the rod or tail domain that were found to be responsible for myosin storage myopathy: R1845W (160760.0028), H1901L (160760.0031), E1886K (160760.0035), and L1793P (160760.0037). None of the mutations altered the secondary structure of the protein, but L1793P and H1901L showed decreased thermodynamic stability. All mutations decreased the extent of self-assembly of the light meromyosin rod (less than 50 to 60%) compared to the wildtype protein. R1845W and H1901L showed formation of more stable and larger filaments, whereas L1793P and E1886K showed more rapid filament degradation. Armel and Leinwand (2009) noted that the assembly of muscle filaments is a multistep process that involves both the proper folding of alpha-helices into coiled-coils, and the assembly of these coiled-coils, in proper register, into filaments, and concluded that defects in any one of these steps can result in improper filament formation leading to muscle disease. </p><p>In a review, Tajsharghi and Oldfors (2013) noted that mutations causing CMYO7A are usually found in the distal rod region of the MYH7 gene. </p><p><strong><em>Myosin Storage Congenital Myopathy 7B, Autosomal Recessive</em></strong></p><p>
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In the proband of a consanguineous British family in which 3 sibs with autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; 255160) developed hypertrophic cardiomyopathy and respiratory failure, Tajsharghi et al. (2007) identified a homozygous missense mutation in the MYH7 gene (E1886K; 160760.0035). </p><p>In 2 Turkish brothers, born of related parents, with CMYO7B, who were originally reported by Onengut et al. (2004), Yuceyar et al. (2015) identified a homozygous missense mutation in the MYH7 gene (R1820W; 160760.0047). The mutation, which was found by linkage analysis and candidate gene sequencing, segregated with the disorder in the family; functional studies of the variant were not performed. Both patients had young adult onset of scapuloperoneal weakness and atrophy; 1 brother developed severe dilated cardiomyopathy in his forties, whereas the other had milder cardiac symptoms. </p><p>In 3 patients from 2 unrelated families with CMYO7B, Beecroft et al. (2019) identified homozygous or compound heterozygous mutations in the MYH7 gene. Two sibs from a consanguineous family (AUS1) carried a homozygous missense mutation (R1712W, 160760.0032), and an unrelated woman (UK1) was compound heterozygous for a nonsense and a missense mutation (Q1567X, 160760.0049 and E1555G, 160760.0050). The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were each inherited from an unaffected parent in both families. None were present in the gnomAD database. </p>
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<p>Geisterfer-Lowrance et al. (1996) engineered the human CMH cardiac myosin heavy chain gene mutation arg403-to-gln (R403Q; 160760.0001) into the mouse genome to create a murine model of familial hypertrophic cardiomyopathy. Homozygous mice died within a week after birth, while heterozygous mice displayed both histologic and hemodynamic abnormalities characteristic of CMH. In addition, the CMH mice demonstrated gender and developmental differences. Male CMH mice demonstrated more severe myocyte hypertrophy, disarray, and interstitial fibrosis than their female littermates, and both sexes showed increased cardiac dysfunction and histopathology as they aged. Heterozygous CMH mice also had sudden death of uncertain etiology, especially during periods of exercise. Berul et al. (1997) found that in contrast to wildtype mice which had completely normal cardiac electrophysiology, CMH mice demonstrated (a) electrocardiographic abnormalities including prolonged repolarization intervals and rightward axis; (b) electrophysiologic abnormalities including heterogeneous ventricular conduction properties and prolonged sinus node recovery time; and (c) inducible ventricular ectopy. </p><p>Fatkin et al. (1999) reported further studies of the CMH mouse in which the arg403-to-gln mutation had been introduced by homologous recombination. Heterozygous mice developed myocardial histologic abnormalities similar to those in human CMH by 15 weeks of age. Sedentary heterozygous mice had a normal life span. Homozygous mutant mice were liveborn, but, unlike their heterozygous littermates, all died within 1 week. Fatkin et al. (1999) found that neonatal lethality was caused by a fulminant dilated cardiomyopathy characterized by myocyte dysfunction and loss. They studied cardiac dimensions and functions for the first time in neonatal mice by high frequency (45 MHz) echocardiography and found that both were normal at birth. Between days 4 and 6, homozygous deficient mice developed a rapidly progressive cardiomyopathy with left ventricular dilation, wall thinning, and reduced systolic contraction. Histopathology revealed myocardial necrosis with dystrophic calcification. Electron microscopy showed normal architecture intermixed with focal myofibrillar disarray. Fatkin et al. (1999) speculated that variable incorporation of mutant and normal MYHC into sarcomeres of heterozygotes may account for focal myocyte death in familial hypertrophic cardiomyopathy. </p><p>In R403Q-knockin mice, Gao et al. (1999) observed that during twitch contractions, peak intracellular Ca(2+) was higher in mutant muscles than in wildtype muscles, but force development was equivalent in both. Developed force fell at higher stimulation rates in the mutants but not in controls. Gao et al. (1999) concluded that calcium cycling and myofilament properties are both altered in CMH mutant mice. </p><p>Marian et al. (1999) created a transgenic rabbit model of hypertrophic cardiomyopathy by injecting a transgene carrying the R403Q mutation into fertilized zygotes. Expression of transgene mRNA and protein were confirmed by Northern blotting and 2-dimensional gel electrophoresis followed by immunoblotting, respectively. Animals carrying the mutant transgene showed substantial myocyte disarray and a 3-fold increase in interstitial collagen expression in the myocardium. Mean septal thickness was comparable between rabbits carrying the wildtype transgene and nontransgenic littermates, but was significantly increased in the mutant transgenic animals. Posterior wall thickness and left ventricular mass were also increased, but dimensions and systolic function were normal. Premature death was more common in mutant than in wildtype transgenic rabbits or in nontransgenic littermates. Thus, the phenotype of patients with the R403Q mutation of the MYH7 was reproduced. </p><p>To minimize confounding variables while assessing relationships between CMH histopathology and arrhythmia vulnerability, Wolf et al. (2005) generated inbred CMH mice carrying the R403Q mutation and observed variable susceptibility to arrhythmias, differences in ventricular hypertrophy, and variable amounts and distribution of fibrosis and myocyte disarray. There was no correlation between the amount and/or pattern of fibrosis or the quantity of myocyte disarray and the propensity for arrhythmia as assessed by ex vivo high-resolution mapping and in vivo electrophysiologic study; however, the amount of ventricular hypertrophy was significantly associated with increased arrhythmia susceptibility. Wolf et al. (2005) concluded that the 3 cardinal manifestations of CMH (cardiac hypertrophy, myocyte fibrosis, and disarray) reflect independent pathologic processes within myocytes carrying a sarcomere gene mutation and that the severity of fibrosis and disarray is substantially influenced by unknown somatic factors, and they suggested that a shared pathway triggered by sarcomere gene mutations links cardiac hypertrophy and arrhythmias in CMH. </p><p>The human hypertrophic cardiomyopathy-causing mutation MYH7 R403Q (160760.0001) causes particularly severe disease characterized by early-onset and progressive myocardial dysfunction, with a high incidence of cardiac sudden death. MHC(403/+) mice express an R403Q mutation in Myh6 (160710) under the control of the endogenous Myh locus. Jiang et al. (2013) found that expression of the Myh6 R403Q mutation in mice can be selectively silenced by an RNA interference (RNAi) cassette delivered by an adeno-associated virus vector. RNAi-transduced MHC(403/+) mice developed neither hypertrophy nor myocardial fibrosis, the pathologic manifestations of hypertrophic cardiomyopathy, for at least 6 months. Because inhibition of hypertrophic cardiomyopathy was achieved by only a 25% reduction in the levels of mutant transcripts, Jiang et al. (2013) suggested that the variable clinical phenotype in hypertrophic cardiomyopathy patients reflects allele-specific expression and that partial silencing of mutant transcripts may have therapeutic benefit. </p><p>Green et al. (2016) identified a small molecule, MYK-461, that reduces contractility by decreasing the adenosine triphosphatase activity of the cardiac myosin heavy chain. They demonstrated that early, chronic administration of MYK-461 suppresses the development of ventricular hypertrophy, cardiomyocyte disarray, and myocardial fibrosis, and attenuates hypertrophic and profibrotic gene expression in mice harboring heterozygous human mutations (e.g., R403Q, 160760.0001; R453C, 160760.0003; and R719W, 160760.0017) in the myosin heavy chain. (Because adult mouse cardiomyocytes primarily express alpha-myosin heavy chain, and because the mouse alpha chain is 92% identical to the human beta chain, these mutations were introduced into the mouse Myh6 gene.) These data indicated that hyperdynamic contraction is essential for HCM pathobiology and that inhibitors of sarcomere contraction may be a valuable therapeutic approach for HCM. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>50 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, ARG403GLN
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<br />
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SNP: rs121913624,
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ClinVar: RCV000015143, RCV000035708, RCV000158788, RCV000199447, RCV001798006, RCV002345242, RCV002504790, RCV004532355
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In the large French-Canadian kindred originally reported by Pare et al. (1961) and shown to have linkage of the cardiac disorder (CMH1; 192600) to markers on the proximal portion of 14q, Geisterfer-Lowrance et al. (1990) found a missense mutation in the beta cardiac myosin heavy chain that converted arginine-403 to glutamine (R403Q). A guanine residue at position 10,162 (enumerated as in Jaenicke et al., 1990) was mutated to an adenine residue. The mutation generated a new DdeI site and changed the CGG(arg) codon to CAG(gln). Perryman et al. (1992) found that the R403Q mutation was identifiable in myocardial mRNA. Ross and Knowlton (1992) reviewed this discovery beginning with the patients first seen by Pare in the 1950s. </p><p>Using an isolated, isovolumic heart preparation where cardiac performance was measured simultaneously with cardiac energetics using (31)P nuclear magnetic resonance spectroscopy, Spindler et al. (1998) studied the effects of the codon 403 missense mutation. They observed 3 major alterations in the physiology and bioenergetics of the mutant mouse hearts. First, while there was no evidence for systolic dysfunction, diastolic function was impaired during inotropic stimulation. Diastolic dysfunction was manifest as both a decreased rate of left ventricular relaxation and an increase in end-diastolic pressure. Second, under baseline conditions the mutant R403Q mouse hearts had lower phosphocreatine and increased inorganic phosphate contents resulting in a decrease in the calculated value for the free energy released from ATP hydrolysis. Third, mutant hearts that were studied unpaced responded to increased perfusate calcium by decreasing heart rate approximately twice as much as wildtypes. The authors concluded that the hearts from mice carrying the R403Q mutation have workload-dependent diastolic dysfunction resembling the human form of familial hypertrophic cardiomyopathy. Changes in high-energy phosphate content suggested that an energy-requiring process may contribute to the observed diastolic dysfunction. </p><p>Bashyam et al. (2003) pointed out that polymorphism in the ACE1 gene (106180) had been shown to affect the prognosis in familial hypertrophic cardiomyopathy. The DD allele of the ACE1 gene (106180.0001) was associated with a severe form of hypertrophy and sudden death in patients with familial hypertrophic cardiomyopathy (Iwai et al., 1994). Tesson et al. (1997) established an association of the D allele at the ACE1 locus with the R403Q mutation in MYH7, but not with MYBPC3 (600958) mutations. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0002 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, ARG249GLN
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<br />
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SNP: rs3218713,
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ClinVar: RCV000015144, RCV000158761, RCV000229956, RCV000617265, RCV000762925, RCV000853263
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Using a ribonuclease protection assay, Watkins et al. (1992) screened the beta cardiac myosin heavy-chain genes of probands from 25 unrelated families with familial hypertrophic cardiomyopathy (CMH1; 192600). Seven different mutations were identified in 12 of the 25 families; see 160760.0003-160760.0007. All were missense mutations; 5 were clustered in the head of the beta-chain, which comprises the 5-prime 866 amino acids, and 2 were located in the 5-prime or hinge portion of the rod part. Six of the mutations resulted in a change in the charge of the amino acid. These patients had a shorter life expectancy (mean age at death, 33 years) than did patients with the one mutation that did not produce a change in charge, val606-to-met. One of the mutations they found was a substitution of glutamine for arginine-249. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, ARG453CYS
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<br />
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SNP: rs121913625,
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ClinVar: RCV000015145, RCV000035717, RCV000158799, RCV000230258, RCV000618958, RCV001170514, RCV001375645, RCV004532356
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See 160760.0002. Watkins et al. (1992) found substitution of cysteine for arginine-453 in 2 unrelated families with familial hypertrophic cardiomyopathy (CMH1; 192600). One of the families also had an alpha/beta cardiac myosin heavy chain hybrid gene which was presumably of no functional significance, inasmuch as the 5-prime promoter region was derived from the alpha subunit. </p><p>In a 3-generation Chinese family, Ko et al. (1996) observed the coexistence of sudden death and end-stage heart failure due to the arg453-to-cys mutation. The average age of death in affected members of the family was 34 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
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MYH7, GLY584ARG
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<br />
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|
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SNP: rs121913626,
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|
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gnomAD: rs121913626,
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|
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ClinVar: RCV000015146, RCV000035744, RCV000223743, RCV000471604, RCV001170509, RCV002408465
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|
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</span>
|
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</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>See 160760.0002. Watkins et al. (1992) found the gly584-to-arg mutation in 2 unrelated families with familial hypertrophic cardiomyopathy (CMH1; 192600). </p>
|
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</span>
|
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
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MYH7, VAL606MET
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<br />
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|
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SNP: rs121913627,
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|
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gnomAD: rs121913627,
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ClinVar: RCV000015147, RCV000015167, RCV000035750, RCV000223823, RCV000252267, RCV000473084, RCV001525146, RCV003147290, RCV003147293, RCV003147294, RCV003320032, RCV004545730
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>See 160760.0002. Watkins et al. (1992) found this mutation in 3 unrelated families with familial hypertrophic cardiomyopathy (CMH1; 192600). Of the 7 mutations they found, this was the only one that produced no change in the charge of the amino acid. Although the affected patients did not differ in other clinical manifestations of familial hypertrophic cardiomyopathy, patients in this family had nearly normal survival; mean age at death was 33 years in the 11 families with one or another mutation that substituted an amino acid with a different charge. </p><p>Blair et al. (2001) identified the val606-to-met mutation in a family in which 2 individuals had suffered sudden death at an early age. The mutation was found to be in cis with an ala728-to-val (A728V) mutation (160760.0025). </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, GLU924LYS
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|
|
|
|
|
<br />
|
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|
|
SNP: rs121913628,
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|
|
ClinVar: RCV000015148, RCV000158573, RCV000197762, RCV000252292, RCV000762922, RCV000770489, RCV002054441, RCV004532357
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|
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|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 160760.0002. Watkins et al. (1992) found this mutation in 1 family with familial hypertrophic cardiomyopathy (CMH1; 192600). The mutation was found in exon 23 by RNase protection assay. It occurred as a new mutation in a 44-year-old female; the parents lacked the mutation which, however, was transmitted to her 24-year-old daughter. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
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</div>
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|
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
MYH7, GLU949LYS
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|
|
<br />
|
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|
|
SNP: rs121913629,
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|
|
ClinVar: RCV000015149, RCV000770487, RCV001618212, RCV003996097
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|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 160760.0002. Watkins et al. (1992) found this mutation in 1 family with familial hypertrophic cardiomyopathy (CMH1; 192600). </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG723CYS
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913630,
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|
|
|
|
|
gnomAD: rs121913630,
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|
|
|
|
|
ClinVar: RCV000015151, RCV000035772, RCV000158516, RCV000253053, RCV000462477, RCV001186219, RCV002496365
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Among 7 individuals with sporadic hypertrophic cardiomyopathy (CMH1; 192600), Watkins et al. (1992) identified mutations in the beta cardiac MHC genes in 2. Since the parents were neither clinically nor genetically affected, the authors concluded that the mutations in each proband arose de novo. Transmission of the mutation and disease to an offspring occurred in 1 pedigree (160760.0006), predicting that these were germline mutations. One proband, a 40-year-old female, was shown by RNase protection assay to have a C-to-T transition in exon 20 at nucleotide 2253, leading to a change from arginine to cysteine at codon 723. Arginine residue 723 is conserved among all known cardiac MHCs and all vertebrate striated muscle MHCs except the human perinatal and rabbit skeletal isoforms; mutation of a cysteine residue constitutes a nonconservative substitution with a change in net charge. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
MYH7, 2.4-KB DEL
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<br />
|
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|
|
|
|
ClinVar: RCV000015152
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|
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|
|
</span>
|
|
</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with several members affected with hypertrophic cardiomyopathy (CMH1; 192600), Marian et al. (1992) identified a novel 9.5-kb BamHI RFLP detected by an MYH7 probe on Southern blots of DNA from the proband. PCR was used to amplify the segment of the gene; sequence analysis showed a 2.4-kb deletion involving 1 allele. The deletion included part of intron 39, exon 40 including the 3-prime untranslated region and the polyadenylation signal, and part of the region between the beta and alpha myosin heavy chain genes. The deletion was inherited by 2 daughters of the proband and a grandson, aged 33, 32, and 10 years, respectively, who were, however, free of signs of the disorder. The 67-year-old proband had late onset of the disorder which was first diagnosed in him at the age of 59 when he presented with atypical chest pain, lightheadedness, and decreased exercise tolerance. On cardiac examination, he showed an S4 heart sound and a systolic ejection murmur. EKG showed left ventricular hypertrophy with repolarization abnormalities. Ventricular hypertrophy was demonstrated by echocardiogram which also showed systolic anterior motion of the anterior leaflet of the mitral valve. There was a 25-mm Hg left ventricular outflow tract gradient. From observations in C. elegans, it was predicted that an unstable mRNA might result from this mutation. </p>
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|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
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MYH7, LEU908VAL
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<br />
|
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|
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SNP: rs121913631,
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|
|
gnomAD: rs121913631,
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|
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|
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ClinVar: RCV000015153, RCV000035820, RCV000078452, RCV000247943, RCV000458449, RCV001177579
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Fananapazir et al. (1993) found evidence, on soleus muscle biopsy, of central core disease (117000) in 10 of 13 hypertrophic cardiomyopathy (CMH1; 192600) patients with the leu908-to-val mutation. Although the mutations in the MYH7 gene were associated with skeletal muscle changes characteristic of central core disease, such was not found in patients with hypertrophic cardiomyopathy unlinked to MYH7. Notably, in 1 branch of a family with the L908V mutation, 2 adults and 3 children had histologic changes of central core disease without evidence of cardiac hypertrophy by echocardiogram. One of the adults had skeletal myopathic changes. McKenna (1993), who stated that he had never seen clinical evidence of skeletal myopathy in patients with CMH1, doubted the significance of the findings. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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MYH7, GLY741ARG
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<br />
|
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|
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SNP: rs121913632,
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gnomAD: rs121913632,
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ClinVar: RCV000015154, RCV000158522, RCV000472342, RCV000621362, RCV001170499, RCV002490371
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|
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|
|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 1 of 3 patients with hypertrophic cardiomyopathy (CMH1; 192600) and the G741R mutation, Fananapazir et al. (1993) found microscopic changes of central core disease on soleus muscle biopsy. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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MYH7, GLY256GLU
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<br />
|
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|
|
SNP: rs121913633,
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|
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ClinVar: RCV000015155, RCV000158764, RCV000693916, RCV002399324
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 1 patient with the G256E mutation and familial hypertrophic cardiomyopathy (CMH1; 192600), Fananapazir et al. (1993) found histologic changes on soleus muscle biopsy consistent with central core disease. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
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|
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|
MYH7, ASP778GLY
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|
<br />
|
|
|
|
SNP: rs121913634,
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|
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|
|
ClinVar: RCV000015156, RCV003586124
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|
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|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 unrelated Japanese patients and their affected family members with hypertrophic cardiomyopathy (CMH1; 192600), Harada et al. (1993) used PCR-DNA conformation polymorphism analysis to detect an A-to-G transition at codon 778 leading to replacement of the asp residue by gly (asp778 to gly, D778G). </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0014 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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|
MYH7, ARG403LEU
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|
<br />
|
|
|
|
SNP: rs121913624,
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|
|
|
|
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|
|
ClinVar: RCV000015157, RCV000158679, RCV001381369, RCV002345243
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 French pedigrees with familial hypertrophic cardiomyopathy (CMH1; 192600), Dausse et al. (1993) performed linkage analysis using 2 microsatellite markers located in the MYH7 gene, as well as 4 highly informative markers that mapped to the 14q11-q12 region. Linkage to the markers was found in pedigree 720, but results were not conclusive for pedigree 730. Haplotype of 6 markers allowed identification of affected individuals and of some unaffected subjects who were carrying the disease gene. Two novel missense mutations were identified in exon 13 by direct sequencing: arg403 to leu (R403L) and arg403 to trp (R403W) in families 720 and 730, respectively. The arg403-to-leu mutation was associated with incomplete penetrance, a high incidence of sudden deaths and severe cardiac events, whereas the consequences of the arg403-to-trp mutation appeared to be less severe. Codon 403 of the MYH7 gene appears, therefore, to be a hotspot for mutations causing CMH. The first mutation identified in this disorder involved codon 403 (160760.0001). </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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|
</div>
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|
|
</div>
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|
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|
<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
MYH7, ARG403TRP
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|
|
<br />
|
|
|
|
SNP: rs3218714,
|
|
|
|
|
|
|
|
ClinVar: RCV000015158, RCV000158787, RCV000456661, RCV000515361, RCV000621657, RCV001170740
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 160760.0014.</p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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|
<div>
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|
<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, PHE513CYS
|
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|
|
<br />
|
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|
|
SNP: rs121913636,
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|
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|
|
|
|
|
ClinVar: RCV000015159
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family of Japanese ancestry in which a mild form of familial hypertrophic cardiomyopathy (CMH1; 192600) occurred, Anan et al. (1994) found a 1624T-G transversion in exon 15, resulting in a phe513-to-cys (F513C) substitution. The F513C mutation did not alter the charge of the encoded amino acid, which may be related to the finding of near-normal life expectancy in this family. </p><p>In a Japanese proband with CMH (CMH17; 613873), Matsushita et al. (2007) identified heterozygosity for a missense mutation in the JPH2 gene (605267.0004); subsequent analysis of 15 known CMH-associated genes revealed that the proband also carried 2 heterozygous mutations in MYH7, F513C and A26V. Her newborn son, who had no signs of CMH on echocardiography at 1 day of age, carried both the JPH2 G505S mutation and the MYH7 A26V mutation. The authors suggested that mutations in both JPH2 and MYH7 could be associated with the pathogenesis of CMH in this proband. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
</div>
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<div>
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|
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG719TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913637,
|
|
|
|
|
|
gnomAD: rs121913637,
|
|
|
|
|
|
ClinVar: RCV000015160, RCV000158512, RCV000241836, RCV000758071, RCV001170501, RCV001194067, RCV001594372, RCV002496366
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated families with hypertrophic cardiomyopathy (CMH1; 192600) with a high incidence of premature death and an average life expectancy in affected individuals of 38 years, Anan et al. (1994) found an R719W mutation in exon 19 changing the charge of the amino acid by -1. The difference in survival of individuals bearing the R719W mutation as compared with those with the F513C mutation (160760.0016) was demonstrated by Kaplan-Meier product-limit curves (their Figure 4). </p><p>In a 6.5-year-old boy with a severe form of hypertrophic cardiomyopathy, Jeschke et al. (1998) identified 2 missense mutations: one was the R719W mutation and the other was an M349T mutation (160760.0020), which was inherited through the maternal grandmother. Six family members who were carriers of the M349T mutation were clinically unaffected. The authors hypothesized that compound heterozygosity for the R719W and M349T mutations resulted in the particularly severe phenotype of early onset. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, GLY716ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913638,
|
|
|
|
|
|
|
|
ClinVar: RCV000015161, RCV000158511, RCV000233499, RCV001170502
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a small family from the U.K. in which 2 individuals affected by hypertrophic cardiomyopathy (CMH1; 192600) were alive, including one who had been resuscitated after sudden death at age 19, Anan et al. (1994) found a G-to-A transition at nucleotide 2232 resulting in a gly716-to-arg (G716R) substitution (charge change = +1) of the encoded amino acid. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, GLU935LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913639,
|
|
|
|
|
|
|
|
ClinVar: RCV000015162, RCV001851866
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with hypertrophic cardiomyopathy (CMH1; 192600) who died in their thirties, Nishi et al. (1994) found a G-to-A transition in codon 935 of the MYH7 gene, leading to a replacement of glutamic acid with lysine. The brothers were homozygous, whereas the parents, who were first cousins, were heterozygous for the mutation and had cardiac hypertrophy without clinical symptoms. An elder sister was also heterozygous for the mutation but did not manifest cardiac hypertrophy. Nishi et al. (1994) suggested that there was a gene dosage effect on clinical manifestations in this family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, MET349THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913640,
|
|
|
|
|
|
gnomAD: rs121913640,
|
|
|
|
|
|
ClinVar: RCV000015150, RCV000127019, RCV000621114, RCV000694881, RCV001188427, RCV002490370
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of a met349-to-thr (M349T) mutation in the MYH7 gene that was found in compound heterozygous state in a patient with hypertrophic cardiomyopathy (CMH1; 192600) by Jeschke et al. (1998), see 160760.0017. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG719GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913641,
|
|
|
|
|
|
|
|
ClinVar: RCV000015163, RCV000158513, RCV000250394, RCV000468000, RCV003486546
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a study of mutations causing hypertrophic cardiomyopathy (CMH1; 192600) in 2 South African subpopulations, Moolman-Smook et al. (1999) identified an arg719-to-gln (R719Q) mutation in the MYH7 gene. The mutation occurred in a family of white ancestry and had previously been described by Watkins et al. (1992) in a Canadian family. The codon is the same as that involved in the arg719-to-trp mutation (160760.0017). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 CARDIOMYOPATHY, DILATED, 1S</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, SER532PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913642,
|
|
|
|
|
|
|
|
ClinVar: RCV000015164, RCV000211832, RCV000688025, RCV001570405, RCV002399325, RCV002468970
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with familial dilated cardiomyopathy-1S (CMD1S; 613426), Kamisago et al. (2000) demonstrated a T-to-C change at nucleotide 1680 in exon 16 of the cardiac beta-myosin heavy chain gene, causing a ser532-to-pro missense mutation. An affected member of this family had received a cardiac transplant cardiac beta-myosin heavy chain gene. An affected member of this family had received a cardiac transplant at 23 years of age. A 20-year-old female suffered postpartum congestive heart failure and sudden death. A female child developed congestive heart failure at 2 years of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 CARDIOMYOPATHY, DILATED, 1S</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, PHE764LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913643,
|
|
|
|
|
|
gnomAD: rs121913643,
|
|
|
|
|
|
ClinVar: RCV000015165, RCV001213330
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with familial dilated cardiomyopathy-1S (CMD1S; 613426), Kamisago et al. (2000) found a C-to-G transversion at nucleotide 2378 in exon 21 of the cardiac beta-myosin heavy chain gene, causing a phe764-to-leu missense mutation. The 33-year-old father was given a diagnosis of dilated cardiomyopathy at age 11 years. A daughter died suddenly at the age of 2 months. A 4-year-old daughter, diagnosed with dilated cardiomyopathy at the time of birth, was found to have fetal left ventricular dilatation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, GLU743ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397516139,
|
|
|
|
|
|
|
|
ClinVar: RCV000015166, RCV000158524, RCV001061140
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Davis et al. (2001) identified a double point mutation in the MYLK2 gene (606566) on the maternal haplotype in a 13-year-old white male proband with early midventricular hypertrophic cardiomyopathy (see CMH1, 192600). The MYLK2 mutations were ala87 to val (A87V; 606566.0001) and ala95 to glu (A95E; 606566.0002). The proband also inherited a glu743-to-asp mutation (E743D) in the beta-myosin gene (MYH7) from his father. Although the son had significant disease at an early age, the father and mother came to medical attention only after the diagnosis of the son. Echocardiographic evaluation showed that both parents had similarly abnormal asymmetrically thickened hearts. The kindred was too small for linkage analysis, and the authors proposed that the mutant MYLK2 may be functionally abnormal and may consequently stimulate cardiac hypertrophy. Davis et al. (2001) concluded that the increased severity of the disease at such a young age in the proband suggests a compound effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ALA728VAL AND VAL606MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913644,
|
|
|
|
|
|
gnomAD: rs121913644,
|
|
|
|
|
|
ClinVar: RCV000015147, RCV000015167, RCV000035750, RCV000035776, RCV000148699, RCV000223823, RCV000252267, RCV000473084, RCV000542451, RCV000757528, RCV001183232, RCV001525146, RCV002426505, RCV003147290, RCV003147293, RCV003147294, RCV003320032, RCV004545730
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a family with familial hypertrophic cardiomyopathy (CMH1; 192600) in which 3 individuals had suffered sudden death, Blair et al. (2001) identified a C-to-T transition in exon 20 resulting in an ala728-to-val (A728V) mutation in cis with a val606-to-met (V606M; 160760.0005) mutation. Blair et al. (2001) suggested that the A728V mutation in cis with the V606M mutation was responsible for the more severe phenotype in this family. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0026 CARDIOMYOPATHY, DILATED, 1S</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, ALA223THR
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<br />
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SNP: rs121913645,
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gnomAD: rs121913645,
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ClinVar: RCV000015168, RCV001221707
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a series of 46 young patients with dilated cardiomyopathy-1S (CMD1S; 613426), Daehmlow et al. (2002) identified 2 mutations in the MYH7 gene, one of which was a G-to-A transition in exon 8 at nucleotide 7799, resulting in an ala223-to-thr (A223T) substitution. The mutation affected a buried residue near the ATP-binding site. The patient with this mutation was 35 years old when diagnosed with dilated cardiomyopathy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0027 CARDIOMYOPATHY, DILATED, 1S</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, SER642LEU
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<br />
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SNP: rs121913646,
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ClinVar: RCV000015169, RCV000819604, RCV002408466, RCV003319167
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a series of 46 young patients with dilated cardiomyopathy-1S (CMD1S; 613426), Daehmlow et al. (2002) found 2 mutations in the MYH7 gene, one of which was a C-to-T transition in exon 17 at nucleotide 12164, resulting in a ser642-to-leu (S642L) substitution at a highly conserved residue. The mutation occurred at the actin-myosin interface. The patient with this mutation was 18 years old when diagnosed with dilated cardiomyopathy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
|
|
</span>
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|
</h4>
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|
</div>
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<div>
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<span class="mim-text-font">
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MYH7, ARG1845TRP
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<br />
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SNP: rs28933098,
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gnomAD: rs28933098,
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ClinVar: RCV000628936, RCV001178343, RCV001200588, RCV003320033, RCV004017246
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In affected members of a family and in an unrelated patient with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; 608358) without cardiomyopathy, Tajsharghi et al. (2003) identified a heterozygous c.23014C-T transition in exon 37 of the MYH7 gene, resulting in an arg1845-to-trp (R1845W) substitution in the distal end of the filament-forming rod region of the protein. Tajsharghi et al. (2003) suggested that the mutation may interfere with the interaction of MYH7 with myosin-binding proteins and inhibit myosin assembly into thick filaments. </p><p>Laing et al. (2005) identified a heterozygous R1845W mutation in 2 unrelated Belgian patients with myosin storage myopathy. Neither patient had a family history of the disease. The mutation was predicted to impair the coiled-coil structure of the protein. </p><p>In a large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A, Pegoraro et al. (2007) identified a heterozygous c.5533C-T transition in the MYH7 gene, resulting in an R1845W substitution. Two affected members of another family (family B) carried the same heterozygous mutation. </p><p><strong><em>Variant Function</em></strong></p><p>
|
|
By functional analysis, Armel and Leinwand (2009) showed that the R1845W mutant protein was nearly indistinguishable from wildtype in both secondary structural characteristics and biophysical parameters. However, compared to the wildtype protein, the mutant protein was unable to assemble to the same extent, formed larger structures, and formed more stable paracrystals. The results suggested that the R1845W mutation alters the interactions between filaments such that their assembly is less constrained, causing the formation of abnormally large, degradation-resistant structures. Similar results were found for H1901L (160760.0031). </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0029 LAING DISTAL MYOPATHY</strong>
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|
</span>
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|
</h4>
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|
</div>
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<div>
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<span class="mim-text-font">
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MYH7, ARG1500PRO
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<br />
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SNP: rs121913647,
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|
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gnomAD: rs121913647,
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|
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|
|
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ClinVar: RCV000192201, RCV000804244, RCV003488340
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</span>
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|
</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an Australian patient with sporadic Laing distal myopathy (MPD1; 160500), Meredith et al. (2004) identified an arg1500-to-pro (R1500P) mutation in exon 32 of the MYH7 gene. Mild talipes equinovarus had been noted at birth but corrected itself. By the time the patient was 4 years old, she was noted to have weakness of ankle dorsiflexion. Progressive weakness of legs and hands followed, with involvement of the arms at 11 years of age. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 LAING DISTAL MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, LYS1617DEL
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|
<br />
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|
|
SNP: rs121913648,
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|
|
ClinVar: RCV000192202, RCV000526457, RCV000599460, RCV001814087, RCV004984710
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|
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|
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</span>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In affected members of previously reported families with Laing distal myopathy (MPD1; 160500) from Germany (Voit et al., 2001) and mutation. Austria (Zimprich et al., 2000), Meredith et al. (2004) identified deletion of a lysine at position 1617 in exon 34 of the MYH7 gene. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
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|
MYH7, HIS1904LEU
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|
<br />
|
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|
|
SNP: rs121913649,
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|
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ClinVar: RCV003320034
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Saudi Arabian family with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; 608358), reported by Bohlega et al. (2003), Bohlega et al. (2004) identified a c.25596A-T transversion in the MYH7 gene, resulting in a his1904-to-leu (H1904L) substitution in a highly conserved residue in the coiled-coil tail region of the protein. The mutation was not identified in 130 control chromosomes. None of the patients had cardiac abnormalities. The authors noted that the H1904L mutation is adjacent to a critical assembly competent domain and suggested that the mutation may cause improper assembly of the thick filament or interfere with stability of the protein. </p><p>Oldfors et al. (2005) used a different numbering system and stated that the mutation described by Bohlega et al. (2004) should be HIS1901LEU. They asserted that the histidine at residue 1901 occupies the 'f' position of the heptad repeat of the coiled-coil domain, whereas residue 1904 is not at an 'f' position in the heptad repeat sequence. In response, Meyer (2005) stated that the mutation occupies an 'f' position regardless of the numbering system used. </p><p><strong><em>Variant Function</em></strong></p><p>
|
|
By functional analysis, Armel and Leinwand (2009), who also referred to this mutation as H1901L, indicated that the mutant protein had decreased thermodynamic stability. In addition, the extent of assembly of the tail region was decreased compared to wildtype, and the paracrystals were much larger and more stable than wildtype. The findings suggested that the E1901L mutation alters the interactions between filaments such that larger, more stable structures are formed. Similar results were observed for R1845W (160760.0028). </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, INCLUDED
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG1712TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913650,
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|
|
gnomAD: rs121913650,
|
|
|
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|
|
ClinVar: RCV000015175, RCV000480992, RCV000546277, RCV002345244, RCV003151728, RCV003319168, RCV004532358
|
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|
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Familial Hypertrophic Cardiomyopathy 1</em></strong></p><p>
|
|
In 2 Danish patients with familial hypertrophic cardiomyopathy (CMH1; 192600), Hougs et al. (2005) identified a c.21815C-T transition in exon 35 of the MYH7 gene, resulting in an arg1712-to-trp substitution (R1712W) in the myosin rod region. </p><p><strong><em>Autosomal Recessive Myosin Storage Congenital Myopathy 7B</em></strong></p><p>
|
|
In 2 sibs, born of consanguineous Middle Eastern parents (family AUS1) with autosomal recessive myosin storage myopathy-7B (CMYO7B; 255160), Beecroft et al. (2019) identified a homozygous c.5134C-T transition in the MYH7 gene, resulting in an R1712W substitution. The mutation, which was found by panel-based sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. Neither patient had cardiac involvement. Transfection of the mutation into COS7 cells showed that the mutant protein formed small round inclusions, suggesting impaired ability to self-assemble into normal long filaments. Functional studies of myofibers from 1 of the patients showed that type II fibers had increased absolute force compared to control fibers, which may reflect a possible compensatory effect. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, GLU483LYS
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|
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|
<br />
|
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|
|
SNP: rs121913651,
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|
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|
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gnomAD: rs121913651,
|
|
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|
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ClinVar: RCV000015176, RCV000539828, RCV001804733, RCV002247341, RCV002390109, RCV004589514
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with hypertrophic cardiomyopathy (CMH1; 192600) previously reported by Hengstenberg et al. (1993, 1994), Richard et al. (1999) found that of 8 affected members, 4 had a G-to-A transition in exon 15 of the MYH7 gene, leading to a glu483-to-lys (E483K) substitution; 2 had a G-to-T mutation at codon 1096 of the MYBPC3 gene (600958.0014) and 2 were doubly heterozygous for the 2 mutations. The E483K mutation was thought to affect a protein domain involved in actin fixation. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG870HIS
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|
<br />
|
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|
|
SNP: rs36211715,
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|
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|
|
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gnomAD: rs36211715,
|
|
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|
|
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ClinVar: RCV000015177, RCV000157361, RCV000158555, RCV000233703, RCV000626634, RCV001731289, RCV004595882, RCV004757109
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of a large consanguineous Indian kindred with familial hypertrophic cardiomyopathy (CMH1; 192600), Tanjore et al. (2006) identified a G-to-A transition in exon 22 of the MYH7 gene, resulting in an arg870-to-his (R870H) substitution in the rod region. The 2 affected homozygotes had asymmetric septal hypertrophy without obstructive outflow, and one of them died of heart failure at age 37 years. The third patient was heterozygous for the R870H mutation and had hypertrophic cardiomyopathy with obstructive outflow. Analysis of family members identified the heterozygous R870H mutation in 18 individuals, of whom 10 were symptomatic. Tanjore et al. (2006) estimated the penetrance of the R870H mutation to be 59% in general, whereas 75% of males and 44% of females were clinically symptomatic, suggesting that female mutation carriers have a better prognosis. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, GLU1883LYS
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913652,
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|
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|
|
|
gnomAD: rs121913652,
|
|
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|
|
|
ClinVar: RCV000015178, RCV000156689, RCV000766473, RCV001068554, RCV002482868, RCV005000983
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 44-year-old man, born of second-cousin British parents, with autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; 255160) and hypertrophic cardiomyopathy, Tajsharghi et al. (2007) identified a homozygous c.24012G-A transition in exon 38 of the MYH7 gene, resulting in a glu1883-to-lys (E1883K) substitution at a highly conserved residue in the distal end of the filament-forming rod region. The proband had 2 similarly affected sibs who had died at ages 32 years and 57 years of cardiorespiratory failure; muscle biopsies from all 3 sibs showed findings typical for myosin storage myopathy. The unaffected parents were presumed heterozygous carriers of the mutation, and another sib was unaffected. </p><p><strong><em>Variant Function</em></strong></p><p>
|
|
By functional analysis, Armel and Leinwand (2009), who referred to this mutation as E1886K, showed that the mutant protein had no major differences in secondary structure or biophysical parameters from wildtype. However, that mutant protein had a decreased ability to assemble to the same extent as wildtype, and the paracrystals formed were more readily degraded by proteolysis. The authors concluded that altered packing of the filaments may destabilize them. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 LAING DISTAL MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, THR441MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913653,
|
|
|
|
|
|
gnomAD: rs121913653,
|
|
|
|
|
|
ClinVar: RCV000035714, RCV000192200, RCV000767122, RCV000777877, RCV000989191, RCV001087154, RCV002496367, RCV004984643
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Tanzanian boy with Laing distal myopathy (MPD1; 160500), Darin et al. (2007) identified a heterozygous 1408C-T transition in the MYH7 gene, resulting in a thr441-to-met (T441M) substitution in the globular head of the myosin heavy chain. The patient had distal muscle weakness in the lower limbs and mild atrial enlargement. Darin et al. (2007) noted that most patients with Laing myopathy have mutations in the rod region of the protein and suggested that the cardiac involvement in this child may be due to the mutation affecting the globular region. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0037 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
|
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED<br />
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LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, LEU1793PRO
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<br />
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SNP: rs121913654,
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ClinVar: RCV000015182, RCV000015183, RCV000158696, RCV001207190, RCV003320035
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 1 of 2 sibs with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; 608358) originally reported by Cancilla et al. (1971), Dye et al. (2006) identified a heterozygous c.5378T-C transition in exon 37 of the MYH7 gene, resulting in a leu1793-to-pro (L1793P) substitution in the light meromyosin (LMM) region of the myosin heavy chain tail. The sibs presumably had the disease because of gonadal mosaicism in 1 of the unaffected parents, although this could not be confirmed. </p><p>In a mother with myosin storage myopathy who later developed hypertrophic cardiomyopathy (CMH1; 192600) and in her daughter who had early symptomatic left ventricular noncompaction (LVNC5; see 613426), Uro-Coste et al. (2009) identified heterozygosity for the L1793P mutation in MYH7. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment, and she had some difficulty with heel-walking. </p><p><strong><em>Variant Function</em></strong></p><p>
|
|
By functional analysis, Armel and Leinwand (2009) showed that the L1793P mutation did not differ in protein secondary structure or in the alpha-helical content compared to wildtype, but decreased thermodynamic stability compared to wildtype. The L1793P mutation altered the ability of LMM to assemble, presumably because of the increased instability of the molecule. Although the paracrystals formed were similar to wildtype, they were more susceptible to proteolytic cleavage. The authors suggested that the L1793P mutation destabilized the dimer interface under conditions similar to those found in vivo, which affects the ability of LMM to assemble properly. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0038 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, GLU497ASP
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<br />
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SNP: rs267606911,
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gnomAD: rs267606911,
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ClinVar: RCV000015184, RCV000204929, RCV000223873, RCV000250089, RCV001170512, RCV002054442, RCV005007852
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|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a family with hypertrophic cardiomyopathy-1 (CMH1; 192600), Arad et al. (2005) identified heterozygosity for a glu497-to-asp (E497D) substitution in the MYH7 gene. The proband had apical hypertrophy with associated electrocardiographic changes of left ventricular hypertrophy and deeply inverted precordial T waves, whereas a family member with concurrent coronary artery disease who carried the mutation had massive concentric hypertrophy with an interventricular septal thickness of 29 mm. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, ASP906GLY
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<br />
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SNP: rs267606908,
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gnomAD: rs267606908,
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ClinVar: RCV000015185, RCV000035817, RCV000158569, RCV000469895, RCV000617405, RCV000762923, RCV001181317
|
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|
|
</span>
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|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In 2 sibs with hypertrophic cardiomyopathy-1 (CMH1; 192600), Arad et al. (2005) identified heterozygosity for an asp906-to-gly (D906G) substitution in the MYH7 gene. The proband had apical hypertrophy, whereas the sib, who had sudden death at 45 years of age, was found on necropsy to have massive asymmetrical left ventricular hypertrophy with an interventricular septal thickness greater than 30 mm and a posterior left ventricular wall that was 18 mm thick. Arad et al. (2005) noted that the D906G mutation had previously been identified by Ho et al. (2002) in 22 affected members of a CMH family with a range of maximum left ventricular wall thickness of 13 to 29 mm; none had apical hypertrophy. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0040 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG243HIS
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|
|
<br />
|
|
|
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SNP: rs267606910,
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|
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|
|
gnomAD: rs267606910,
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|
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|
|
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ClinVar: RCV000015186, RCV000015187, RCV000472129, RCV000514633, RCV000656213, RCV001618213, RCV002381250
|
|
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|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 40-year-old man with hypertrophic cardiomyopathy-1 (CMH1; 192600) who presented with presyncope and was found to have apical hypertrophy, Arad et al. (2005) identified heterozygosity for an arg243-to-his (R243H) substitution in the MYH7 gene. </p><p>In affected members of a 3-generation family segregating autosomal dominant left ventricular noncompaction but no other congenital heart anomalies (LVNC5; see 613426), previously studied by Sasse-Klaassen et al. (2003) as 'family INVM-107,' Klaassen et al. (2008) identified heterozygosity for an 814G-A transition in the MYH7 gene, resulting in the R243H substitution. Noncompaction in all 4 affected individuals involved the apex and mid-left ventricular wall, and the right ventricle was involved as well in 2 patients. </p>
|
|
</span>
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</div>
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<div>
|
|
<br />
|
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</div>
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|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 LEFT VENTRICULAR NONCOMPACTION 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, IVS8DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730880850,
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|
|
|
|
|
gnomAD: rs730880850,
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|
|
|
|
|
ClinVar: RCV000015188, RCV000158758, RCV000214568, RCV000477002, RCV001256089, RCV001542486, RCV003298034, RCV004799177
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 families segregating autosomal dominant left ventricular noncompaction but no other congenital heart anomalies (LVNC5; see 613426), 1 of which was previously studied by Sasse-Klaassen et al. (2003) as 'family INVM-101,' Klaassen et al. (2008) identified heterozygosity for an 818+1G-A transition at the splice donor site in intron 8 of the MYH7 gene. The mutation segregated with disease in both families; haplotype analysis ruled out a founding mutation. Clinical evaluation in both families was remarkable for the very pronounced morphology of LVNC. The proband of family INVM-101 was diagnosed because of inverted T-waves and later had a stroke and systemic peripheral emboli, whereas his brother initially presented with decompensated heart failure and pulmonary emboli; both patients remained stable over a period of 8 years. Other affected members of family INVM-101 fulfilled morphologic LVNC criteria but were clinically asymptomatic. The proband of the other family was diagnosed because of atypical chest pain; he and his affected 8-year-old son had no signs of heart failure. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 LEFT VENTRICULAR NONCOMPACTION 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ALA1766THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606909,
|
|
|
|
|
|
gnomAD: rs267606909,
|
|
|
|
|
|
ClinVar: RCV000015189, RCV001526036, RCV003586125
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 20-year-old man with left ventricular noncompaction but no other congenital heart anomalies (LVNC5; see 613426), Klaassen et al. (2008) identified heterozygosity for a de novo 5382G-A transition in exon 37 of the MYH7 gene, resulting in an ala1766-to-thr (A1766T) substitution. The proband was initially diagnosed due to arrhythmias on routine electrocardiogram, but his left ventricular systolic function subsequently deteriorated over a period of 6 years; sustained ventricular tachycardia resulted in implantation of an intracardiac defibrillator. The mutation was not present in his unaffected parents. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG453SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913625,
|
|
|
|
|
|
|
|
ClinVar: RCV000015190, RCV000154254, RCV001618214
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 32-year-old African American woman with severe hypertrophic cardiomyopathy (CMH1; 192600) and a family history of CMH and sudden cardiac death, Frazier et al. (2008) identified heterozygosity for a 1357C-A transversion in exon 14 of the MYH7 gene, resulting in an arg453-to-ser (R453S) substitution, as well as a heterozygous missense mutation in the TNNI3 gene (191044.0003). Her affected 8-year-old daughter carried only the heterozygous MYH7 mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0044 LAING DISTAL MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, 3-BP DEL, AAG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs367543052,
|
|
|
|
|
|
|
|
ClinVar: RCV000034922, RCV000035952, RCV000628918, RCV002336112
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of an Italian American family with Laing distal myopathy (MPD1; 160500) reported by Hedera et al. (2003), Meredith et al. (2004) identified a heterozygous 3-bp deletion of 1 of 3 consecutive AAG triplets in exon 36 of the MYH7 gene, resulting in the deletion of lys1729 (lys1729del). </p><p>Muelas et al. (2010) identified the lys1729del mutation in 29 clearly affected individuals from 4 unrelated families in the Safor region of Spain. There was great phenotypic variability. The age at onset ranged from congenital to 50 years, with a mean of 14 years. All patients presented with weakness of great toe/ankle dorsiflexors, and many had associated neck flexor (78%), finger extensor (78%), mild facial (70%), or proximal muscle (65%) weakness. Five patients had cardiac abnormalities, including dilated cardiomyopathy, left ventricular relaxation impairment, and conduction abnormalities. The spectrum of disability ranged from asymptomatic to wheelchair-confined, but life expectancy was not affected. EMG showed myopathic and neurogenic features, and muscle biopsies showed fiber type disproportion, core/minicore lesions, and mitochondrial abnormalities. These findings expanded the phenotypic spectrum of Laing myopathy, but the wide spectrum associated with a single mutation was noteworthy. </p><p>Muelas et al. (2012) identified a common 41.2-kb short haplotype including the lys1729del mutation in both Spanish patients from the Safor region and in the Italian American family reported by Hedera et al. (2003), indicating a founder effect. However, microsatellite markers both up- and downstream of the mutation did not match, indicating multiple recombination events. The mutation was estimated to have been introduced into the Safor population about 375 to 420 years ago (15 generations ago). The region is located in the southeast of Valencia on the Mediterranean coast of Spain. Muelas et al. (2012) hypothesized that the families from Safor were descendants of the Genoese who had repopulated this Spanish region in the 17th century after the Muslims were expelled; in fact, many of the surnames of the Safor families with Laing myopathy had an Italian origin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0045 LEFT VENTRICULAR NONCOMPACTION 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, TYR283ASP
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515482,
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|
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|
|
|
|
ClinVar: RCV000056316, RCV002054899
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected individuals from 2 white families of western European descent segregating autosomal dominant left ventricular noncompaction (LVNC5; 613426), Postma et al. (2011) identified heterozygosity for a mutation at nucleotide 933 in exon 10 of the MYH7 gene, resulting in a tyr283-to-asp (Y283D) substitution at a highly conserved residue. The mutation segregated with disease in both families and was not found in more than 980 ethnically matched control chromosomes. The 2 probands had other cardiac malformations in addition to LVNC, including Ebstein anomaly in both as well as type II atrial septal defect in 1 and pulmonary artery hypoplasia in the other. One family had 5 more affected individuals over 3 generations, 2 of whom had other cardiac malformations, including Ebstein anomaly in 1 and perimembranous ventricular septal defect in 1; 2 of the patients had only mild left ventricular apical hypertrabeculation. In the other family, the proband's asymptomatic mutation-positive father was found to have LVNC by screening echocardiography; in addition, a paternal aunt was reported to have heart failure, and the paternal grandfather had received an implantable cardioverter-defibrillator. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0046 LEFT VENTRICULAR NONCOMPACTION 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ASN1918LYS
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs138110910,
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|
|
|
|
|
|
|
ClinVar: RCV000056317
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected individuals over 3 generations of a white family of western European descent with left ventricular noncompaction (LVNC5; 613426), Postma et al. (2011) identified heterozygosity for a mutation in exon 39 of the MYH7 gene, resulting in an asn1918-to-lys (N1918K) substitution at a conserved residue. The mutation segregated with disease in the family and was not found in more than 980 ethnically matched control chromosomes. In addition to marked LVNC, the 39-year-old proband exhibited Ebstein anomaly, which was discovered upon evaluation of a cardiac murmur at 3 years of age. She remained asymptomatic despite significant tricuspid regurgitation from age 30 years. She had a mutation-positive son with bicuspid aortic valve and aortic coarctation in whom echocardiography at age 5 years also showed LVNC. Her asymptomatic mutation-positive mother and brother were both found to have LVNC by echocardiography, and her brother also had LV dilation with dysfunction. In an asymptomatic mutation-positive cousin, cardiomyopathy could not be ruled out due to poor imaging quality. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0047 CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH7, ARG1820TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs145734640,
|
|
|
|
|
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gnomAD: rs145734640,
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ClinVar: RCV000158703, RCV000172878, RCV000685507, RCV002345540, RCV002484981, RCV003320122
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Turkish brothers, born of related parents, with autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; 255160), who were originally reported by Onengut et al. (2004), Yuceyar et al. (2015) identified a homozygous c.5458C-T transition in exon 37 of the MYH7 gene, resulting in an arg1820-to-trp (R1820W) substitution. The mutation, which was found by linkage analysis and candidate gene sequencing, segregated with the disorder in the family and was not found in 353 Turkish controls or in the Exome Variant Server database. Functional studies of the variant were not performed. Both patients had young adult onset of scapuloperoneal weakness and atrophy; 1 brother developed severe dilated cardiomyopathy in his forties, whereas the other had milder cardiac symptoms. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0048 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, TER1936TRP
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<br />
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SNP: rs367543053,
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ClinVar: RCV000034923, RCV000707184, RCV003320038
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 12 affected members of a 5-generation Spanish family previously reported by Sobrido et al. (2005) with autosomal dominant myosin storage congenital myopathy-7A (CMYO7A; 608358), Ortolano et al. (2011) identified a heterozygous c.5807A-G transition (c.5807A-G, NM_000257.2) in exon 40 of the MYH7 gene, changing the termination codon to a tryptophan-encoding sequence that was predicted to elongate the protein with 31 additional residues at the C-terminal tail of the protein (Ter1936TrpfsTer32). The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in the family. It was not present in 202 population controls. Skeletal muscle samples were available from 3 patients (at ages 25, 43, and 62). All showed features of congenital fiber type disproportion, and the oldest patient demonstrated subsarcolemmal hyaline accumulation in type I muscle fibers, suggesting that the pathologic findings can change over time. Two samples studied had normal expression of type I and II myosin heavy chains, but only the younger patient showed decreased MYH7 transcript levels compared to controls. The patients had an early-onset, slowly progressive predominantly proximal skeletal myopathy with mild distal involvement and no signs of cardiomyopathy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0049 CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, GLN1567TER
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<br />
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SNP: rs1892204411,
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ClinVar: RCV001066184, RCV003228801, RCV003372978
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 30-year-old woman (family UK1) with autosomal recessive myosin storage myopathy-7B (CMYO7B; 255160), Beecroft et al. (2019) identified compound heterozygous mutations in the MYH7 gene: a c.4699C-T transition, resulting in a gln1567-to-ter (Q1567X) substitution, and a c.4664A-G transition, resulting in a glu1555-to-gly (E1555G; 160760.0050) substitution at a conserved residue in the rod domain. The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were each inherited from an unaffected parent. Neither mutation was present in the gnomAD database. Functional studies of the variants were not performed. The patient had mildly delayed walking, proximal muscle weakness of the upper and lower limbs, distal muscle weakness, reduced muscle bulk, poor feeding, and progressive nocturnal hypoventilation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0050 CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYH7, GLU1555GLY
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<br />
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SNP: rs730880805,
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ClinVar: RCV000158665, RCV003228795
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.4664A-G transition in the MYH7 gene, resulting in a glu1555-to-gly (E1555G) substitution, that was found in compound heterozygous state in a patient with autosomal recessive myosin storage myopathy-7B (CMYO7B; 255160) by Beecroft et al. (2019), see 160760.0049. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Kurabayashi et al. (1988); Saez et al. (1987)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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Anan, R., Greve, G., Thierfelder, L., Watkins, H., McKenna, W. J., Solomon, S., Vecchio, C., Shono, H., Nakao, S., Tanaka, H., Mares, A., Jr., Towbin, J. A., Spirito, P., Roberts, R., Seidman, J. G., Seidman, C. E.
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<strong>Prognostic implications of novel beta-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.</strong>
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Armel, T. Z., Leinwand, L. A.
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Bashyam, M. D., Savithri, G. R., Kumar, M. S., Narasimhan, C., Nallari, P.
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<strong>Molecular genetics of familial hypertrophic cardiomyopathy (FHC).</strong>
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Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A., Jungbluth, H.
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<strong>Recessive MYH7-related myopathy in two families.</strong>
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Neuromusc. Disord. 29: 456-467, 2019.
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[PubMed: 31130376]
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[Full Text: https://doi.org/10.1016/j.nmd.2019.04.002]
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<strong>Electrophysiological abnormalities and arrhythmias in alpha-MHC mutant familial hypertrophic cardiomyopathy mice.</strong>
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[PubMed: 9045856]
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<p class="mim-text-font">
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Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H.
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<strong>Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)</strong>
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J. Med. Genet. 38: 385-387, 2001.
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[PubMed: 11424919]
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[Full Text: https://doi.org/10.1136/jmg.38.6.385]
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Bohlega, S., Abu-Amero, S. N., Wakil, S. M., Carroll, P., Al-Amr, R., Lach, B., Al-Sayed, Y., Cupler, E. J., Meyer, B. F.
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<strong>Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.</strong>
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Neurology 62: 1518-1521, 2004.
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[PubMed: 15136674]
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[Full Text: https://doi.org/10.1212/01.wnl.0000123255.92062.37]
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Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J.
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<strong>Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.</strong>
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[PubMed: 14663035]
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[Full Text: https://doi.org/10.1212/01.wnl.0000096022.09887.9d]
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Cancilla, P. A., Kalyanaraman, K., Verity, M. A., Munsat, T., Pearson, C. M.
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<strong>Familial myopathy with probable lysis of myofibrils in type 1 fibers.</strong>
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Neurology 21: 579-585, 1971.
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[PubMed: 4104682]
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[Full Text: https://doi.org/10.1212/wnl.21.6.579]
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Ceuterick, C., Martin, J. J., Martens, C.
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<strong>Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy.</strong>
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Clin. Neuropath. 12: 79-83, 1993.
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[PubMed: 7682901]
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Cuda, G., Fananapazir, L., Zhu, W.-S., Sellers, J. R., Epstein, N. D.
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<strong>Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.</strong>
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J. Clin. Invest. 91: 2861-2865, 1993.
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[PubMed: 8514894]
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<p class="mim-text-font">
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Daehmlow, S., Erdmann, J., Knueppel, T., Gille, C., Froemmel, C., Hummel, M., Hetzer, R., Regitz-Zagrosek, V.
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<strong>Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.</strong>
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Biochem. Biophys. Res. Commun. 298: 116-120, 2002.
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[PubMed: 12379228]
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[Full Text: https://doi.org/10.1016/s0006-291x(02)02374-4]
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<p class="mim-text-font">
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Darin, N., Tajsharghi, H., Ostman-Smith, I., Gilljam, T., Oldfors, A.
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<strong>New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.</strong>
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Neurology 68: 2041-2042, 2007.
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[PubMed: 17548557]
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[Full Text: https://doi.org/10.1212/01.wnl.0000264430.55233.72]
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</p>
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<p class="mim-text-font">
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Das, J., Ingles, J., Bagnall, R. D., Semsarian, C.
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<strong>Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.</strong>
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Genet. Med. 16: 286-293, 2014. Note: Erratum: Genet. Med. 21: 1264 only, 2019.
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[Full Text: https://doi.org/10.1038/gim.2013.138]
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</p>
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<p class="mim-text-font">
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Dausse, E., Komajda, M., Fetler, L., Dubourg, O., Dufour, C., Carrier, L., Wisnewsky, C., Bercovici, J., Hengstenberg, C., Al-Mahdawi, S., Isnard, R., Hagege, A., Bouhour, J.-B., Desnos, M., Beckmann, J., Weissenbach, J., Schwartz, K., Guicheney, P.
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<strong>Familial hypertrophic cardiomyopathy: microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.</strong>
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J. Clin. Invest. 92: 2807-2813, 1993.
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[PubMed: 8254035]
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[Full Text: https://doi.org/10.1172/JCI116900]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Davis, J. S., Hassanzadeh, S., Winitsky, S., Lin, H., Satorius, C., Vemuri, R., Aletras, A. H., Wen, H., Epstein, N. D.
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<strong>The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.</strong>
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Cell 107: 631-641, 2001.
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[PubMed: 11733062]
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[Full Text: https://doi.org/10.1016/s0092-8674(01)00586-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Diederich, K. W., Eisele, I., Ried, T., Jaenicke, T., Lichter, P., Vosberg, H.-P.
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<strong>Isolation and characterization of the complete human beta-myosin heavy chain gene.</strong>
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|
Hum. Genet. 81: 214-220, 1989.
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|
[PubMed: 2522082]
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[Full Text: https://doi.org/10.1007/BF00278991]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G.
|
|
<strong>Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.</strong>
|
|
Neuromusc. Disord. 16: 357-360, 2006.
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|
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[PubMed: 16684601]
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[Full Text: https://doi.org/10.1016/j.nmd.2006.03.011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D.
|
|
<strong>Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.
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|
[PubMed: 8483915]
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[Full Text: https://doi.org/10.1073/pnas.90.9.3993]
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</p>
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</li>
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Wolf, C. M., Moskowitz, I. P. G., Arno, S., Branco, D. M., Semsarian, C., Bernstein, S. A., Peterson, M., Maida, M., Morley, G. E., Fishman, G., Berul, C. I., Seidman, C. E., Seidman, J. G.
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<strong>Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia.</strong>
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Woo, A., Rakowski, H., Liew, J. C., Zhao, M.-S., Liew, C.-C., Parker, T. G., Zeller, M., Wigle, E. D., Sole, M. J.
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<strong>Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.</strong>
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Yamauchi-Takihara, K., Sole, M. J., Liew, J., Ing, D., Liew, C. C.
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<strong>Characterization of human cardiac myosin heavy chain genes.</strong>
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Yuceyar, N., Ayhan, O., Karasoy, H., Tolun, A.
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<strong>Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.</strong>
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Zimprich, F., Djamshidian, A., Hainfellner, J. A., Budka, H., Zeitlhofer, J.
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<strong>An autosomal dominant early adult-onset distal muscular dystrophy.</strong>
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Contributors:
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Bao Lige - updated : 03/21/2024<br>Cassandra L. Kniffin - updated : 03/08/2023<br>Ada Hamosh - updated : 06/07/2017<br>Cassandra L. Kniffin - updated : 6/2/2015<br>Ada Hamosh - updated : 4/28/2014<br>Ada Hamosh - updated : 1/29/2014<br>Marla J. F. O'Neill - updated : 10/9/2013<br>Marla J. F. O'Neill - updated : 9/4/2013<br>Cassandra L. Kniffin - updated : 5/3/2012<br>Marla J. F. O'Neill - updated : 4/7/2011<br>Cassandra L. Kniffin - updated : 10/26/2010<br>Patricia A. Hartz - updated : 10/6/2010<br>Ada Hamosh - updated : 9/27/2010<br>Marla J. F. O'Neill - updated : 8/5/2010<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Cassandra L. Kniffin - updated : 10/14/2009<br>Victor A. McKusick - updated : 2/19/2008<br>Cassandra L. Kniffin - updated : 1/7/2008<br>Marla J. F. O'Neill - updated : 12/4/2007<br>Marla J. F. O'Neill - updated : 11/21/2007<br>Ada Hamosh - updated : 6/4/2007<br>Cassandra L. Kniffin - updated : 5/31/2006<br>Marla J. F. O'Neill - updated : 2/23/2006<br>Carol A. Bocchini - updated : 8/12/2005<br>Marla J. F. O'Neill - updated : 7/13/2005<br>Cassandra L. Kniffin - updated : 6/27/2005<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Victor A. McKusick - updated : 4/11/2005<br>Cassandra L. Kniffin - updated : 1/25/2005<br>Victor A. McKusick - updated : 9/9/2004<br>Victor A. McKusick - updated : 1/15/2004<br>Cassandra L. Kniffin - updated : 12/24/2003<br>Victor A. McKusick - updated : 5/9/2003<br>Victor A. McKusick - updated : 3/7/2003<br>Victor A. McKusick - updated : 11/5/2002<br>Michael J. Wright - updated : 8/2/2002<br>Stylianos E. Antonarakis - updated : 12/17/2001<br>Victor A. McKusick - updated : 1/4/2001<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 11/15/1999<br>Victor A. McKusick - updated : 5/18/1998<br>Clair A. Francomano - updated : 5/7/1998
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Victor A. McKusick : 6/2/1986
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