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<title>
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Entry
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- *160790 - MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3
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- OMIM
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</form>
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<div class="row">
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<p />
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*160790</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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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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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>
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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>
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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>
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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>
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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/160790">Table View</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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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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</nav>
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</div>
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</div>
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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=ENSG00000160808;t=ENST00000292327" 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=4634" 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=160790" 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=ENSG00000160808;t=ENST00000292327" 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_000258,NM_001406937,NM_001406938,NM_001406939,NM_001406940,NM_001406941" 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_000258" 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=160790" 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=01183&isoform_id=01183_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/MYL3" 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/34866,127149,189024,189027,459827,4557777,9651188,14602559,119585195,119585196,189065258,1471157342,2243204491,2243205099,2244985496,2244985562,2244986592" 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/P08590" 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=4634" 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=ENSG00000160808;t=ENST00000292327" 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=MYL3" 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=MYL3" 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+4634" 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/MYL3" 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:4634" 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/4634" 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=chr3&hgg_gene=ENST00000292327.6&hgg_start=46857872&hgg_end=46882182&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:7584" 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:7584" 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=160790[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=160790[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://gnomad.broadinstitute.org/gene/ENSG00000160808" 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=MYL3" 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=MYL3" 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=MYL3" 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="http://genepath.med.harvard.edu/~seidman/cg3/genes/MYL3_info.html" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MYL3&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/PA31381" 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:7584" 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/FBgn0002772.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:97268" 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/MYL3#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:97268" 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/4634/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://www.orthodb.org/?ncbi=4634" 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=WBGene00003371;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003371 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00011734;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00011734 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00023451;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00023451 </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 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:4634" 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=MYL3&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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</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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160790
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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, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3
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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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ESSENTIAL LIGHT CHAIN OF MYOSIN<br />
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ELC OF MYOSIN<br />
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MYOSIN, LIGHT CHAIN 1, SLOW, B; MLC1SB<br />
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MYOSIN, LIGHT CHAIN 1, VENTRICULAR; MLC1V
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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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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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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=MYL3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYL3</a></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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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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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: <a href="/geneMap/3/259?start=-3&limit=10&highlight=259">3p21.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:46857872-46882182&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'})">3:46,857,872-46,882,182</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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</span>
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Cardiomyopathy, hypertrophic, 8
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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PheneGene Graphics <span class="caret"></span>
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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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<p>In all eukaryotes, myosin plays a major role in the maintenance of cell shape and in cellular movement; in association with actin and other contractile proteins, it is also a major structural component of the muscle sarcomere. Myosin is composed of 2 heavy chains associated with 4 light chains belonging to 2 distinct classes: 2 phosphorylatable, or regulatory, light chains (e.g., MYL2, <a href="/entry/160781">160781</a>), and 2 nonphosphorylatable, or alkali, light chains, such as MYL3 (summary by <a href="#3" class="mim-tip-reference" title="Cohen-Haguenauer, O., Barton, P. J. R., Van Cong, N., Cohen, A., Masset, M., Buckingham, M., Frezal, J. <strong>Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4).</strong> Hum. Genet. 81: 278-282, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2784124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2784124</a>] [<a href="https://doi.org/10.1007/BF00279004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2784124">Cohen-Haguenauer et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2784124" 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="#7" class="mim-tip-reference" title="Hoffmann, E., Shi, Q. W., Floroff, M., Mickle, D. A. G., Wu, T.-W., Olley, P. M., Jackowski, G. <strong>Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1.</strong> Nucleic Acids Res. 16: 2353, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3357795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3357795</a>] [<a href="https://doi.org/10.1093/nar/16.5.2353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3357795">Hoffmann et al. (1988)</a> cloned human ventricular myosin light chain-1, encoding a deduced protein of 195 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3357795" 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="#5" class="mim-tip-reference" title="Fodor, W. L., Darras, B., Seharaseyon, J., Falkenthal, S., Francke, U., Vanin, E. F. <strong>Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location.</strong> J. Biol. Chem. 264: 2143-2149, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2789520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2789520</a>]" pmid="2789520">Fodor et al. (1989)</a> found that the MYL3 gene has 7 exons, the last of which is completely untranslated 3-prime sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2789520" 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="#4" class="mim-tip-reference" title="Darras, B. T., Fodor, B., Vanin, E., Francke, U. <strong>A human myosin alkali light chain gene mapped to chromosome 3. (Abstract)</strong> Cytogenet. Cell Genet. 46: 603, 1987."None>Darras et al. (1987)</a> and <a href="#5" class="mim-tip-reference" title="Fodor, W. L., Darras, B., Seharaseyon, J., Falkenthal, S., Francke, U., Vanin, E. F. <strong>Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location.</strong> J. Biol. Chem. 264: 2143-2149, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2789520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2789520</a>]" pmid="2789520">Fodor et al. (1989)</a> used a fragment from the 3-prime end of the human myosin alkali light chain gene, isolated by screening a partial genomic library with rat skeletal myosin light chain cDNA, in studies of somatic cell hybrids. The gene was found to map to 3p. In the mouse, the Myl3 gene on distal chromosome 9 codes the ventricular and slow skeletal muscle isoforms. Other loci in that area, such as Bgl and Acy, are homologous to genes on human chromosome 3p. It is possible that the gene mapped by <a href="#4" class="mim-tip-reference" title="Darras, B. T., Fodor, B., Vanin, E., Francke, U. <strong>A human myosin alkali light chain gene mapped to chromosome 3. (Abstract)</strong> Cytogenet. Cell Genet. 46: 603, 1987."None>Darras et al. (1987)</a> is the human homolog of mouse Myl3; thus the designation MYL3 is used for the human locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2789520" 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 a panel of man-rodent somatic cell hybrids, <a href="#3" class="mim-tip-reference" title="Cohen-Haguenauer, O., Barton, P. J. R., Van Cong, N., Cohen, A., Masset, M., Buckingham, M., Frezal, J. <strong>Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4).</strong> Hum. Genet. 81: 278-282, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2784124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2784124</a>] [<a href="https://doi.org/10.1007/BF00279004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2784124">Cohen-Haguenauer et al. (1989)</a> mapped the MYL3 gene to chromosome 3. This finding was in keeping with the assignment of the corresponding gene to mouse chromosome 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2784124" 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="#8" class="mim-tip-reference" title="Laugwitz, K.-L., Moretti, A., Weig, H.-J., Gillitzer, A., Pinkernell, K., Ott, T., Pragst, I., Stadele, C., Seyfarth, M., Schomig, A., Ungerer, M. <strong>Blocking caspase-activated apoptosis improves contractility in failing myocardium.</strong> Hum. Gene Ther. 12: 2051-2063, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11747596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11747596</a>] [<a href="https://doi.org/10.1089/10430340152677403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11747596">Laugwitz et al. (2001)</a> showed that caspase-3 (<a href="/entry/600636">600636</a>) activation directly influences contractile performance of failing ventricular myocytes, and can be corrected via adenovirus-mediated gene delivery of the potent caspase inhibitor p35 with a positive impact on contractility. To determine the molecular mechanism by which activated caspase-3 causes a deterioration of cardiac function, <a href="#10" class="mim-tip-reference" title="Moretti, A., Weig, H.-J., Ott, T., Seyfarth, M., Holthoff, H.-P., Grewe, D., Gillitzer, A., Bott-Flugel, L., Schomig, A., Ungerer, M., Laugwitz, K.-L. <strong>Essential myosin light chain as a target for caspase-3 in failing myocardium.</strong> Proc. Nat. Acad. Sci. 99: 11860-11865, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12186978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12186978</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12186978[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.182373099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12186978">Moretti et al. (2002)</a> used a modified yeast 2-hybrid system to screen for caspase-3 interacting proteins of the cardiac cytoskeleton. They identified ventricular essential myosin light chain (MYL3), symbolized vMLC1 by the authors, as a target of caspase-3. They demonstrated that MYL3 cleavage in failing myocardium in vivo was associated with a morphologic disruption of the organized MYL3 staining of sarcomeres, and with a reduction in myocyte contractile performance. Adenoviral gene transfer of p35 in vivo prevented caspase-3 activation and MYL3 cleavage, with positive impact on contractility. These data suggested that direct cleavage of the myosin light chain by activated caspase-3 may contribute to depression of myocyte function by altering crossbridge interaction between myosin and actin molecules. Therefore, activation of apoptotic pathways in the heart may lead to contractile dysfunction before cell death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12186978+11747596" 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="#12" class="mim-tip-reference" title="Poetter, K., Jiang, H., Hassanzadeh, S., Master, S. R., Chang, A., Dalakas, M. C., Rayment, I., Sellers, J. R., Fananapazir, L., Epstein, N. D. <strong>Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.</strong> Nature Genet. 13: 63-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673105</a>] [<a href="https://doi.org/10.1038/ng0596-63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673105">Poetter et al. (1996)</a> analyzed the MYL3 gene in 383 unrelated probands with hypertrophic cardiomyopathy (see CMH8, <a href="/entry/608751">608751</a>) and identified a heterozygous missense mutation at a conserved residue (M149V; <a href="#0001">160790.0001</a>) that segregated with disease in a large 3-generation family. Linkage analysis of the mutation against hypertrophy gave a lod score of 6.2 with no recombinants. Six of 13 affected family members had unusual mid-left ventricular chamber thickening on echocardiography. <a href="#12" class="mim-tip-reference" title="Poetter, K., Jiang, H., Hassanzadeh, S., Master, S. R., Chang, A., Dalakas, M. C., Rayment, I., Sellers, J. R., Fananapazir, L., Epstein, N. D. <strong>Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.</strong> Nature Genet. 13: 63-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673105</a>] [<a href="https://doi.org/10.1038/ng0596-63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673105">Poetter et al. (1996)</a> screened the MYL3 gene in 16 additional CMH patients with similar mid-left ventricular chamber thickening and identified a different heterozygous missense mutation (R154H; <a href="#0002">160790.0002</a>) in a young boy with massive chamber obstruction. Neither these nor any other mutations in MYL3 were found in 378 control chromosomes or 762 chromosomes from unrelated CMH kindreds. <a href="#12" class="mim-tip-reference" title="Poetter, K., Jiang, H., Hassanzadeh, S., Master, S. R., Chang, A., Dalakas, M. C., Rayment, I., Sellers, J. R., Fananapazir, L., Epstein, N. D. <strong>Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.</strong> Nature Genet. 13: 63-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673105</a>] [<a href="https://doi.org/10.1038/ng0596-63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673105">Poetter et al. (1996)</a> also analyzed the MYL2 gene (<a href="/entry/160781">160781</a>) in CMH patients and identified 3 different heterozygous mutations in 5 affected individuals, 4 of whom had 'strikingly similar' mid-left ventricular chamber hypertrophy (see CMH10, <a href="/entry/608758">608758</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673105" 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 sibs of a consanguineous family with early-onset hypertrophic cardiomyopathy characterized by midcavitary hypertrophy and restrictive physiology, <a href="#11" class="mim-tip-reference" title="Olson, T. M., Karst, M. L., Whitby, F. G., Driscoll, D. J. <strong>Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.</strong> Circulation 105: 2337-2340, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12021217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12021217</a>] [<a href="https://doi.org/10.1161/01.cir.0000018444.47798.94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12021217">Olson et al. (2002)</a> performed haplotype analysis using polymorphic DNA markers spanning genes known to cause hypertrophic cardiomyopathy. The results suggested that, in keeping with the consanguineous family history, the phenotype might be an autosomal recessive form of CMH caused by mutation in MYL3. A homozygous MYL3 mutation, glu143 to lys (E143K; <a href="#0003">160790.0003</a>), was subsequently identified in the proband. The authors suggested that, in contrast to autosomal dominant CMH mutations in which functional studies demonstrate a dominant-negative effect, E143K was likely to cause loss of function. In support of this hypothesis, the authors found that heterozygotes were unaffected on the basis of electrocardiography and echocardiography. In addition, this mutation affected an amino acid in a surface-exposed loop of the essential light chain and was unlikely to disrupt protein conformation or stability. Site-directed mutagenesis of the corresponding loop domain (<a href="#6" class="mim-tip-reference" title="Ho, G., Chisholm, R. L. <strong>Substitution mutations in the myosin essential light chain lead to reduced actin-activated ATPase activity despite stoichiometric binding to the heavy chain.</strong> J. Biol. Chem. 272: 4522-4527, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020178</a>] [<a href="https://doi.org/10.1074/jbc.272.7.4522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020178">Ho and Chisholm, 1997</a>) had no effect on binding between myosin heavy and light chains, but significantly reduced actin-activated ATPase activity and in vitro motility. Thus, <a href="#11" class="mim-tip-reference" title="Olson, T. M., Karst, M. L., Whitby, F. G., Driscoll, D. J. <strong>Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.</strong> Circulation 105: 2337-2340, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12021217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12021217</a>] [<a href="https://doi.org/10.1161/01.cir.0000018444.47798.94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12021217">Olson et al. (2002)</a> concluded that this family demonstrated a true autosomal recessive form of CMH8, characterized by a unique pattern of hypertrophy previously described in autosomal dominant CMH8. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12021217+9020178" 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 the proband from a CMH family previously described by <a href="#9" class="mim-tip-reference" title="Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E. <strong>Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).</strong> Am. J. Cardiol. 49: 1838-1848, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6211078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6211078</a>] [<a href="https://doi.org/10.1016/0002-9149(82)90200-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6211078">Maron et al. (1982)</a>, in which 6 of 12 affected members had typical asymmetric hypertrophy and 6 had ventricular septal hypertrophy that was localized to the apical region of the left ventricle, <a href="#1" 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 the M149V mutation. <a href="#1" 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 because the classification of hypertrophy as midcavitary or apical might in part reflect the evolution of diagnostic imaging techniques from angiography, by which midcavitary hypertrophy was historically recognized, to echocardiography and MRI, these may represent overlapping morphologies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16267253+6211078" 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=160790[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104893748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893748;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=rs104893748" 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=rs104893748" 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=RCV000015105 OR RCV000158948 OR RCV000168418 OR RCV004018632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015105, RCV000158948, RCV000168418, RCV004018632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015105...</a>
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<p>In affected members of a large 3-generation family segregating autosomal dominant hypertrophic cardiomyopathy (CMH8; <a href="/entry/608751">608751</a>), <a href="#12" class="mim-tip-reference" title="Poetter, K., Jiang, H., Hassanzadeh, S., Master, S. R., Chang, A., Dalakas, M. C., Rayment, I., Sellers, J. R., Fananapazir, L., Epstein, N. D. <strong>Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.</strong> Nature Genet. 13: 63-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673105</a>] [<a href="https://doi.org/10.1038/ng0596-63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673105">Poetter et al. (1996)</a> identified heterozygosity for an A-G transition in the MYL3 gene, resulting in a met149-to-val (M149V) substitution at a highly conserved residue. Six of 13 affected family members had unusual mid-left ventricular chamber thickening on echocardiography. An in vitro motility assay of ventricular myosins from 3 mutation-positive individuals demonstrated an increased rate of actin translocation compared to controls. Soleus or deltoid muscle biopsies from the same 3 patients showed myopathic changes and a ragged-red fiber pattern characteristic of primary mitochondrial disease; cytochrome oxidase-positive subsarcolemmal accumulations were confirmed to be mitochondria by electron microscopy. The M149V mutation was not found in 378 control chromosomes or in 762 chromosomes from unrelated CMH kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673105" 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 the proband from a CMH family previously described by <a href="#9" class="mim-tip-reference" title="Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E. <strong>Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).</strong> Am. J. Cardiol. 49: 1838-1848, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6211078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6211078</a>] [<a href="https://doi.org/10.1016/0002-9149(82)90200-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6211078">Maron et al. (1982)</a>, in which 6 of 12 affected members had typical asymmetric hypertrophy and 6 had ventricular septal hypertrophy that was localized to the apical region of the left ventricle, <a href="#1" 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 the M149V mutation. Two members of the family had died of heart failure, at 35 and 54 years of age, respectively, and sudden death had occurred in 3 individuals, at ages 26, 33, and 35 years, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16267253+6211078" 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> rs104893749 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893749;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/rs104893749?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=rs104893749" 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=rs104893749" 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=RCV000015106 OR RCV000253839 OR RCV000491772 OR RCV000552674 OR RCV000766487 OR RCV001170903" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015106, RCV000253839, RCV000491772, RCV000552674, RCV000766487, RCV001170903" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015106...</a>
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<p>In a young boy with hypertrophic cardiomyopathy (CMH8; <a href="/entry/608751">608751</a>) and massive mid-left ventricular chamber obstruction, <a href="#12" class="mim-tip-reference" title="Poetter, K., Jiang, H., Hassanzadeh, S., Master, S. R., Chang, A., Dalakas, M. C., Rayment, I., Sellers, J. R., Fananapazir, L., Epstein, N. D. <strong>Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.</strong> Nature Genet. 13: 63-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673105</a>] [<a href="https://doi.org/10.1038/ng0596-63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673105">Poetter et al. (1996)</a> identified an arg154-to-his (R154H) substitution at a highly conserved residue in the MYL3 gene. The mutation was not found in 378 control chromosomes or in 762 chromosomes from unrelated CMH kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673105" 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> rs104893750 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893750;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/rs104893750?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=rs104893750" 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=rs104893750" 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=RCV000015107 OR RCV000036022 OR RCV000199993 OR RCV000249729 OR RCV000497294 OR RCV001186218 OR RCV001201266 OR RCV003407333" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015107, RCV000036022, RCV000199993, RCV000249729, RCV000497294, RCV001186218, RCV001201266, RCV003407333" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015107...</a>
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<p><a href="#11" class="mim-tip-reference" title="Olson, T. M., Karst, M. L., Whitby, F. G., Driscoll, D. J. <strong>Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.</strong> Circulation 105: 2337-2340, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12021217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12021217</a>] [<a href="https://doi.org/10.1161/01.cir.0000018444.47798.94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12021217">Olson et al. (2002)</a> reported a consanguineous family in which 3 sibs had presented with childhood-onset CMH characterized by midcavitary left-ventricular hypertrophy (CMH8; <a href="/entry/608751">608751</a>). Both parents had completely normal hearts in their 40s. Mutation screening in a surviving affected sib revealed a homozygous missense G-to-A point mutation at codon 143 of the MYL3 gene, resulting in a glutamic acid-to-lysine (E143K) substitution. Heterozygotes had normal hearts. Sequence alignment of myosin essential light chains demonstrated high conservation of glutamic acid at position 143 across species. The E143K mutation was absent from 150 normal control DNA samples. The authors concluded that this was a true autosomal recessive form of CMH8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12021217" 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 22-year-old woman from El Salvador with cardiomyopathy, <a href="#2" class="mim-tip-reference" title="Caleshu, C., Sakhuja, R., Nussbaum, R. L., Schiller, N. B., Ursell, P. C., Eng, C., De Marco, T., McGlothlin, D., Burchard, E. G., Rame, J. E. <strong>Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.</strong> Am. J. Med. Genet. 155A: 2229-2235, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21823217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21823217</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21823217[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/10.1002/ajmg.a.34097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21823217">Caleshu et al. (2011)</a> sequenced the exons and exon-intron boundaries of 8 known cardiomyopathy-associated genes and identified homozygosity for the E143K mutation in the MYL3 gene. The patient was also found to be heterozygous for a G57E polymorphism in the MYL2 gene (<a href="/entry/160781">160781</a>); her asymptomatic 45-year-old mother, who had a normal transthoracic echocardiogram, electrocardiogram, and physical examination, was heterozygous for both the E143K mutation in MYL3 and the G57E polymorphism in MYL2. The patient, who had a prior diagnosis of childhood asthma, presented with worsening dyspnea and fatigue over the previous year, and transthoracic echocardiogram revealed severe biatrial enlargement with preserved biventricular systolic function and no left ventricular hypertrophy or valvular disease; Doppler evaluation suggested advanced left ventricular diastolic dysfunction. Left and right heart catheterization showed elevated filling pressures bilaterally, with a prominent y-descent, a suggestion of a 'dip-and-plateau,' and ventricular concordance, all features described in restrictive cardiomyopathy (RCM). Right ventricular endomyocardial biopsy revealed marked myocyte hypertrophy and myofiber disarray with interstitial fibrosis. The patient went on to develop recurrent syncope and had an automatic implantable cardiac defibrillator placed; she underwent orthotopic heart transplantation 6 months after diagnosis with cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21823217" 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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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>
|
|
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://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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Caleshu, C., Sakhuja, R., Nussbaum, R. L., Schiller, N. B., Ursell, P. C., Eng, C., De Marco, T., McGlothlin, D., Burchard, E. G., Rame, J. E.
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<strong>Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.</strong>
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Am. J. Med. Genet. 155A: 2229-2235, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21823217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21823217</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21823217[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=21823217" 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/ajmg.a.34097" target="_blank">Full Text</a>]
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Cohen-Haguenauer, O., Barton, P. J. R., Van Cong, N., Cohen, A., Masset, M., Buckingham, M., Frezal, J.
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<strong>Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4).</strong>
|
|
Hum. Genet. 81: 278-282, 1989.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2784124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2784124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2784124" 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/10.1007/BF00279004" target="_blank">Full Text</a>]
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Darras, B. T., Fodor, B., Vanin, E., Francke, U.
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|
<strong>A human myosin alkali light chain gene mapped to chromosome 3. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 603, 1987.
|
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</p>
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Fodor, W. L., Darras, B., Seharaseyon, J., Falkenthal, S., Francke, U., Vanin, E. F.
|
|
<strong>Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location.</strong>
|
|
J. Biol. Chem. 264: 2143-2149, 1989.
|
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2789520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2789520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2789520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ho, G., Chisholm, R. L.
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<strong>Substitution mutations in the myosin essential light chain lead to reduced actin-activated ATPase activity despite stoichiometric binding to the heavy chain.</strong>
|
|
J. Biol. Chem. 272: 4522-4527, 1997.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9020178" 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/10.1074/jbc.272.7.4522" target="_blank">Full Text</a>]
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Hoffmann, E., Shi, Q. W., Floroff, M., Mickle, D. A. G., Wu, T.-W., Olley, P. M., Jackowski, G.
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<strong>Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1.</strong>
|
|
Nucleic Acids Res. 16: 2353, 1988.
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3357795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3357795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3357795" 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/10.1093/nar/16.5.2353" target="_blank">Full Text</a>]
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Laugwitz, K.-L., Moretti, A., Weig, H.-J., Gillitzer, A., Pinkernell, K., Ott, T., Pragst, I., Stadele, C., Seyfarth, M., Schomig, A., Ungerer, M.
|
|
<strong>Blocking caspase-activated apoptosis improves contractility in failing myocardium.</strong>
|
|
Hum. Gene Ther. 12: 2051-2063, 2001.
|
|
|
|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11747596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11747596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11747596" 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/10.1089/10430340152677403" target="_blank">Full Text</a>]
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Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E.
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<strong>Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).</strong>
|
|
Am. J. Cardiol. 49: 1838-1848, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6211078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6211078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6211078" 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/10.1016/0002-9149(82)90200-4" target="_blank">Full Text</a>]
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Moretti, A., Weig, H.-J., Ott, T., Seyfarth, M., Holthoff, H.-P., Grewe, D., Gillitzer, A., Bott-Flugel, L., Schomig, A., Ungerer, M., Laugwitz, K.-L.
|
|
<strong>Essential myosin light chain as a target for caspase-3 in failing myocardium.</strong>
|
|
Proc. Nat. Acad. Sci. 99: 11860-11865, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12186978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12186978</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12186978[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=12186978" 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/10.1073/pnas.182373099" target="_blank">Full Text</a>]
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Olson, T. M., Karst, M. L., Whitby, F. G., Driscoll, D. J.
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<strong>Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.</strong>
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Circulation 105: 2337-2340, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12021217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12021217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12021217" 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/10.1161/01.cir.0000018444.47798.94" target="_blank">Full Text</a>]
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Poetter, K., Jiang, H., Hassanzadeh, S., Master, S. R., Chang, A., Dalakas, M. C., Rayment, I., Sellers, J. R., Fananapazir, L., Epstein, N. D.
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<strong>Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.</strong>
|
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Nature Genet. 13: 63-69, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673105" 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/10.1038/ng0596-63" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 9/30/2011
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/7/2010<br>Marla J. F. O'Neill - updated : 6/22/2004<br>Victor A. McKusick - updated : 10/14/2002<br>Paul Brennan - updated : 6/26/2002<br>Victor A. McKusick - updated : 6/17/1998<br>Victor A. McKusick - updated : 8/1/1997
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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 : 8/31/1987
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</span>
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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 : 09/06/2018
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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 : 08/04/2016<br>carol : 10/01/2014<br>carol : 9/30/2011<br>terry : 9/30/2011<br>carol : 6/7/2010<br>mgross : 2/24/2006<br>carol : 6/22/2004<br>carol : 6/22/2004<br>carol : 6/14/2004<br>carol : 3/30/2004<br>carol : 3/17/2004<br>tkritzer : 10/28/2002<br>tkritzer : 10/17/2002<br>terry : 10/14/2002<br>alopez : 6/26/2002<br>alopez : 6/26/2002<br>carol : 11/9/2001<br>terry : 11/9/2000<br>alopez : 10/3/2000<br>alopez : 4/30/1999<br>terry : 6/17/1998<br>mark : 9/26/1997<br>terry : 8/1/1997<br>mark : 5/15/1996<br>terry : 5/14/1996<br>terry : 5/7/1996<br>terry : 5/6/1996<br>supermim : 3/16/1992<br>carol : 10/11/1991<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>carol : 5/5/1989<br>carol : 3/14/1989
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</span>
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</div>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 160790
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3
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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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ESSENTIAL LIGHT CHAIN OF MYOSIN<br />
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ELC OF MYOSIN<br />
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MYOSIN, LIGHT CHAIN 1, SLOW, B; MLC1SB<br />
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MYOSIN, LIGHT CHAIN 1, VENTRICULAR; MLC1V
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</span>
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</h4>
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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: MYL3</em></strong>
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</span>
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</p>
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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: 3p21.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:46,857,872-46,882,182 </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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<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>
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<th>
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Location
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</th>
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<th>
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Phenotype
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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="1">
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<span class="mim-font">
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3p21.31
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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, hypertrophic, 8
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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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608751
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; 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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3
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</span>
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</td>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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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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<span class="mim-text-font">
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<p>In all eukaryotes, myosin plays a major role in the maintenance of cell shape and in cellular movement; in association with actin and other contractile proteins, it is also a major structural component of the muscle sarcomere. Myosin is composed of 2 heavy chains associated with 4 light chains belonging to 2 distinct classes: 2 phosphorylatable, or regulatory, light chains (e.g., MYL2, 160781), and 2 nonphosphorylatable, or alkali, light chains, such as MYL3 (summary by Cohen-Haguenauer et al., 1989). </p>
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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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<h4>
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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>
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<span class="mim-text-font">
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<p>Hoffmann et al. (1988) cloned human ventricular myosin light chain-1, encoding a deduced protein of 195 amino acids. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Fodor et al. (1989) found that the MYL3 gene has 7 exons, the last of which is completely untranslated 3-prime sequence. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Darras et al. (1987) and Fodor et al. (1989) used a fragment from the 3-prime end of the human myosin alkali light chain gene, isolated by screening a partial genomic library with rat skeletal myosin light chain cDNA, in studies of somatic cell hybrids. The gene was found to map to 3p. In the mouse, the Myl3 gene on distal chromosome 9 codes the ventricular and slow skeletal muscle isoforms. Other loci in that area, such as Bgl and Acy, are homologous to genes on human chromosome 3p. It is possible that the gene mapped by Darras et al. (1987) is the human homolog of mouse Myl3; thus the designation MYL3 is used for the human locus. </p><p>Using a panel of man-rodent somatic cell hybrids, Cohen-Haguenauer et al. (1989) mapped the MYL3 gene to chromosome 3. This finding was in keeping with the assignment of the corresponding gene to mouse chromosome 9. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Laugwitz et al. (2001) showed that caspase-3 (600636) activation directly influences contractile performance of failing ventricular myocytes, and can be corrected via adenovirus-mediated gene delivery of the potent caspase inhibitor p35 with a positive impact on contractility. To determine the molecular mechanism by which activated caspase-3 causes a deterioration of cardiac function, Moretti et al. (2002) used a modified yeast 2-hybrid system to screen for caspase-3 interacting proteins of the cardiac cytoskeleton. They identified ventricular essential myosin light chain (MYL3), symbolized vMLC1 by the authors, as a target of caspase-3. They demonstrated that MYL3 cleavage in failing myocardium in vivo was associated with a morphologic disruption of the organized MYL3 staining of sarcomeres, and with a reduction in myocyte contractile performance. Adenoviral gene transfer of p35 in vivo prevented caspase-3 activation and MYL3 cleavage, with positive impact on contractility. These data suggested that direct cleavage of the myosin light chain by activated caspase-3 may contribute to depression of myocyte function by altering crossbridge interaction between myosin and actin molecules. Therefore, activation of apoptotic pathways in the heart may lead to contractile dysfunction before cell death. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Poetter et al. (1996) analyzed the MYL3 gene in 383 unrelated probands with hypertrophic cardiomyopathy (see CMH8, 608751) and identified a heterozygous missense mutation at a conserved residue (M149V; 160790.0001) that segregated with disease in a large 3-generation family. Linkage analysis of the mutation against hypertrophy gave a lod score of 6.2 with no recombinants. Six of 13 affected family members had unusual mid-left ventricular chamber thickening on echocardiography. Poetter et al. (1996) screened the MYL3 gene in 16 additional CMH patients with similar mid-left ventricular chamber thickening and identified a different heterozygous missense mutation (R154H; 160790.0002) in a young boy with massive chamber obstruction. Neither these nor any other mutations in MYL3 were found in 378 control chromosomes or 762 chromosomes from unrelated CMH kindreds. Poetter et al. (1996) also analyzed the MYL2 gene (160781) in CMH patients and identified 3 different heterozygous mutations in 5 affected individuals, 4 of whom had 'strikingly similar' mid-left ventricular chamber hypertrophy (see CMH10, 608758). </p><p>In 3 sibs of a consanguineous family with early-onset hypertrophic cardiomyopathy characterized by midcavitary hypertrophy and restrictive physiology, Olson et al. (2002) performed haplotype analysis using polymorphic DNA markers spanning genes known to cause hypertrophic cardiomyopathy. The results suggested that, in keeping with the consanguineous family history, the phenotype might be an autosomal recessive form of CMH caused by mutation in MYL3. A homozygous MYL3 mutation, glu143 to lys (E143K; 160790.0003), was subsequently identified in the proband. The authors suggested that, in contrast to autosomal dominant CMH mutations in which functional studies demonstrate a dominant-negative effect, E143K was likely to cause loss of function. In support of this hypothesis, the authors found that heterozygotes were unaffected on the basis of electrocardiography and echocardiography. In addition, this mutation affected an amino acid in a surface-exposed loop of the essential light chain and was unlikely to disrupt protein conformation or stability. Site-directed mutagenesis of the corresponding loop domain (Ho and Chisholm, 1997) had no effect on binding between myosin heavy and light chains, but significantly reduced actin-activated ATPase activity and in vitro motility. Thus, Olson et al. (2002) concluded that this family demonstrated a true autosomal recessive form of CMH8, characterized by a unique pattern of hypertrophy previously described in autosomal dominant CMH8. </p><p>In the proband from a CMH family previously described by Maron et al. (1982), in which 6 of 12 affected members had typical asymmetric hypertrophy and 6 had ventricular septal hypertrophy that was localized to the apical region of the left ventricle, Arad et al. (2005) identified heterozygosity for the M149V mutation. Arad et al. (2005) noted that because the classification of hypertrophy as midcavitary or apical might in part reflect the evolution of diagnostic imaging techniques from angiography, by which midcavitary hypertrophy was historically recognized, to echocardiography and MRI, these may represent overlapping morphologies. </p>
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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>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>3 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, 8</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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MYL3, MET149VAL
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<br />
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SNP: rs104893748,
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ClinVar: RCV000015105, RCV000158948, RCV000168418, RCV004018632
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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 large 3-generation family segregating autosomal dominant hypertrophic cardiomyopathy (CMH8; 608751), Poetter et al. (1996) identified heterozygosity for an A-G transition in the MYL3 gene, resulting in a met149-to-val (M149V) substitution at a highly conserved residue. Six of 13 affected family members had unusual mid-left ventricular chamber thickening on echocardiography. An in vitro motility assay of ventricular myosins from 3 mutation-positive individuals demonstrated an increased rate of actin translocation compared to controls. Soleus or deltoid muscle biopsies from the same 3 patients showed myopathic changes and a ragged-red fiber pattern characteristic of primary mitochondrial disease; cytochrome oxidase-positive subsarcolemmal accumulations were confirmed to be mitochondria by electron microscopy. The M149V mutation was not found in 378 control chromosomes or in 762 chromosomes from unrelated CMH kindreds. </p><p>In the proband from a CMH family previously described by Maron et al. (1982), in which 6 of 12 affected members had typical asymmetric hypertrophy and 6 had ventricular septal hypertrophy that was localized to the apical region of the left ventricle, Arad et al. (2005) identified heterozygosity for the M149V mutation. Two members of the family had died of heart failure, at 35 and 54 years of age, respectively, and sudden death had occurred in 3 individuals, at ages 26, 33, and 35 years, respectively. </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, 8</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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MYL3, ARG154HIS
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<br />
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SNP: rs104893749,
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gnomAD: rs104893749,
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ClinVar: RCV000015106, RCV000253839, RCV000491772, RCV000552674, RCV000766487, RCV001170903
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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 young boy with hypertrophic cardiomyopathy (CMH8; 608751) and massive mid-left ventricular chamber obstruction, Poetter et al. (1996) identified an arg154-to-his (R154H) substitution at a highly conserved residue in the MYL3 gene. The mutation was not found in 378 control chromosomes or in 762 chromosomes from unrelated CMH kindreds. </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, 8</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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MYL3, GLU143LYS
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<br />
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SNP: rs104893750,
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gnomAD: rs104893750,
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ClinVar: RCV000015107, RCV000036022, RCV000199993, RCV000249729, RCV000497294, RCV001186218, RCV001201266, RCV003407333
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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>Olson et al. (2002) reported a consanguineous family in which 3 sibs had presented with childhood-onset CMH characterized by midcavitary left-ventricular hypertrophy (CMH8; 608751). Both parents had completely normal hearts in their 40s. Mutation screening in a surviving affected sib revealed a homozygous missense G-to-A point mutation at codon 143 of the MYL3 gene, resulting in a glutamic acid-to-lysine (E143K) substitution. Heterozygotes had normal hearts. Sequence alignment of myosin essential light chains demonstrated high conservation of glutamic acid at position 143 across species. The E143K mutation was absent from 150 normal control DNA samples. The authors concluded that this was a true autosomal recessive form of CMH8. </p><p>In a 22-year-old woman from El Salvador with cardiomyopathy, Caleshu et al. (2011) sequenced the exons and exon-intron boundaries of 8 known cardiomyopathy-associated genes and identified homozygosity for the E143K mutation in the MYL3 gene. The patient was also found to be heterozygous for a G57E polymorphism in the MYL2 gene (160781); her asymptomatic 45-year-old mother, who had a normal transthoracic echocardiogram, electrocardiogram, and physical examination, was heterozygous for both the E143K mutation in MYL3 and the G57E polymorphism in MYL2. The patient, who had a prior diagnosis of childhood asthma, presented with worsening dyspnea and fatigue over the previous year, and transthoracic echocardiogram revealed severe biatrial enlargement with preserved biventricular systolic function and no left ventricular hypertrophy or valvular disease; Doppler evaluation suggested advanced left ventricular diastolic dysfunction. Left and right heart catheterization showed elevated filling pressures bilaterally, with a prominent y-descent, a suggestion of a 'dip-and-plateau,' and ventricular concordance, all features described in restrictive cardiomyopathy (RCM). Right ventricular endomyocardial biopsy revealed marked myocyte hypertrophy and myofiber disarray with interstitial fibrosis. The patient went on to develop recurrent syncope and had an automatic implantable cardiac defibrillator placed; she underwent orthotopic heart transplantation 6 months after diagnosis with cardiomyopathy. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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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.
|
|
<strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong>
|
|
Circulation 112: 2805-2811, 2005.
|
|
|
|
|
|
[PubMed: 16267253]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.105.547448]
|
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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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Caleshu, C., Sakhuja, R., Nussbaum, R. L., Schiller, N. B., Ursell, P. C., Eng, C., De Marco, T., McGlothlin, D., Burchard, E. G., Rame, J. E.
|
|
<strong>Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.</strong>
|
|
Am. J. Med. Genet. 155A: 2229-2235, 2011.
|
|
|
|
|
|
[PubMed: 21823217]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.34097]
|
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|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cohen-Haguenauer, O., Barton, P. J. R., Van Cong, N., Cohen, A., Masset, M., Buckingham, M., Frezal, J.
|
|
<strong>Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4).</strong>
|
|
Hum. Genet. 81: 278-282, 1989.
|
|
|
|
|
|
[PubMed: 2784124]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00279004]
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</p>
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</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
|
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Darras, B. T., Fodor, B., Vanin, E., Francke, U.
|
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<strong>A human myosin alkali light chain gene mapped to chromosome 3. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 603, 1987.
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Fodor, W. L., Darras, B., Seharaseyon, J., Falkenthal, S., Francke, U., Vanin, E. F.
|
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<strong>Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location.</strong>
|
|
J. Biol. Chem. 264: 2143-2149, 1989.
|
|
|
|
|
|
[PubMed: 2789520]
|
|
|
|
|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
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Ho, G., Chisholm, R. L.
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<strong>Substitution mutations in the myosin essential light chain lead to reduced actin-activated ATPase activity despite stoichiometric binding to the heavy chain.</strong>
|
|
J. Biol. Chem. 272: 4522-4527, 1997.
|
|
|
|
|
|
[PubMed: 9020178]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.272.7.4522]
|
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</p>
|
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</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
|
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Hoffmann, E., Shi, Q. W., Floroff, M., Mickle, D. A. G., Wu, T.-W., Olley, P. M., Jackowski, G.
|
|
<strong>Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1.</strong>
|
|
Nucleic Acids Res. 16: 2353, 1988.
|
|
|
|
|
|
[PubMed: 3357795]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/16.5.2353]
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</p>
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</li>
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|
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<li>
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<p class="mim-text-font">
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Laugwitz, K.-L., Moretti, A., Weig, H.-J., Gillitzer, A., Pinkernell, K., Ott, T., Pragst, I., Stadele, C., Seyfarth, M., Schomig, A., Ungerer, M.
|
|
<strong>Blocking caspase-activated apoptosis improves contractility in failing myocardium.</strong>
|
|
Hum. Gene Ther. 12: 2051-2063, 2001.
|
|
|
|
|
|
[PubMed: 11747596]
|
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|
|
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[Full Text: https://doi.org/10.1089/10430340152677403]
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Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E.
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<strong>Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).</strong>
|
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Am. J. Cardiol. 49: 1838-1848, 1982.
|
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|
|
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[PubMed: 6211078]
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|
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[Full Text: https://doi.org/10.1016/0002-9149(82)90200-4]
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</p>
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</li>
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Moretti, A., Weig, H.-J., Ott, T., Seyfarth, M., Holthoff, H.-P., Grewe, D., Gillitzer, A., Bott-Flugel, L., Schomig, A., Ungerer, M., Laugwitz, K.-L.
|
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<strong>Essential myosin light chain as a target for caspase-3 in failing myocardium.</strong>
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Proc. Nat. Acad. Sci. 99: 11860-11865, 2002.
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[PubMed: 12186978]
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[Full Text: https://doi.org/10.1073/pnas.182373099]
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Olson, T. M., Karst, M. L., Whitby, F. G., Driscoll, D. J.
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<strong>Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.</strong>
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Circulation 105: 2337-2340, 2002.
|
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[PubMed: 12021217]
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[Full Text: https://doi.org/10.1161/01.cir.0000018444.47798.94]
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Poetter, K., Jiang, H., Hassanzadeh, S., Master, S. R., Chang, A., Dalakas, M. C., Rayment, I., Sellers, J. R., Fananapazir, L., Epstein, N. D.
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<strong>Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.</strong>
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Nature Genet. 13: 63-69, 1996.
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[PubMed: 8673105]
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[Full Text: https://doi.org/10.1038/ng0596-63]
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Marla J. F. O'Neill - updated : 9/30/2011<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Marla J. F. O'Neill - updated : 6/22/2004<br>Victor A. McKusick - updated : 10/14/2002<br>Paul Brennan - updated : 6/26/2002<br>Victor A. McKusick - updated : 6/17/1998<br>Victor A. McKusick - updated : 8/1/1997
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