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<title>
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Entry
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- *604103 - MYOTILIN; MYOT
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- OMIM
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<div id="mimSearch" class="hidden-print">
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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="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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Advanced Search
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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 style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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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">*604103</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 role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604103">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=ENSG00000120729;t=ENST00000239926" 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=9499" 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=604103" 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=ENSG00000120729;t=ENST00000239926" 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_001135940,NM_001300911,NM_006790,XM_017010061" 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_006790" 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=604103" 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=04981&isoform_id=04981_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/MYOT" 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/5532485,5803106,5870837,13529230,51537003,119582581,119582582,189053438,194390236,194390258,209693444,311033402,665506003,957950631,957950634,1034646780,2441114227,2462605086" 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/Q9UBF9" 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=9499" 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=ENSG00000120729;t=ENST00000239926" 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=MYOT" 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=MYOT" 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+9499" 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/MYOT" 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:9499" 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/9499" 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=chr5&hgg_gene=ENST00000239926.9&hgg_start=137867860&hgg_end=137887851&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">
|
|
<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://medlineplus.gov/genetics/gene/myot" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604103[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=604103[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/MYOT/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000120729" 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=MYOT" 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=MYOT" 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=MYOT" 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://www.LOVD.nl/MYOT" 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=MYOT&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/PA37064" 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:12399" 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://www.mousephenotype.org/data/genes/MGI:1889800" 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/MYOT#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:1889800" 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/9499/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=9499" 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="https://zfin.org/ZDB-GENE-110411-129" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</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:9499" 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=MYOT&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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|
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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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604103
|
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
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MYOTILIN; MYOT
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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>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MYO<br />
|
|
TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
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<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MYOT" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYOT</a></em></strong>
|
|
</span>
|
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</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/5/497?start=-3&limit=10&highlight=497">5q31.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:137867860-137887851&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'})">5:137,867,860-137,887,851</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497">
|
|
5q31.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Myopathy, myofibrillar, 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<a href="/entry/609200"> 609200 </a>
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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>Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN; <a href="/entry/188840">188840</a>), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1; <a href="/entry/102575">102575</a>), an actin crosslinking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy.</p>
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<p><a href="#7" class="mim-tip-reference" title="Salmikangas, P., Mykkanen, O.-M., Gronholm, M., Heiska, L., Kere, J., Carpen, O. <strong>Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 8: 1329-1336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369880</a>] [<a href="https://doi.org/10.1093/hmg/8.7.1329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369880">Salmikangas et al. (1999)</a> described a novel 57-kD cytoskeletal protein, myotilin. Its N-terminal sequence is unique, but the C-terminal half contains 2 Ig-like domains homologous to titin. <a href="#7" class="mim-tip-reference" title="Salmikangas, P., Mykkanen, O.-M., Gronholm, M., Heiska, L., Kere, J., Carpen, O. <strong>Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 8: 1329-1336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369880</a>] [<a href="https://doi.org/10.1093/hmg/8.7.1329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369880">Salmikangas et al. (1999)</a> found that myotilin is expressed in skeletal and cardiac muscle, colocalizes with alpha-actinin in sarcomeric I bands, and directly interacts with alpha-actinin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369880" 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>By radiation hybrid mapping, <a href="#7" class="mim-tip-reference" title="Salmikangas, P., Mykkanen, O.-M., Gronholm, M., Heiska, L., Kere, J., Carpen, O. <strong>Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 8: 1329-1336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369880</a>] [<a href="https://doi.org/10.1093/hmg/8.7.1329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369880">Salmikangas et al. (1999)</a> located the myotilin gene on 5q31 between markers AFM350yB1 and D5S500. Muscle specificity and apparent role as a sarcomeric structural protein raised the possibility that defects in the myotilin gene may cause muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369880" 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="Salmikangas, P., van der Ven, P. F. M., Lalowski, M., Taivainen, A., Zhao, F., Suila, H., Schroder, R., Lappalainen, P., Furst, D. O., Carpen, O. <strong>Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.</strong> Hum. Molec. Genet. 12: 189-203, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12499399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12499399</a>] [<a href="https://doi.org/10.1093/hmg/ddg020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12499399">Salmikangas et al. (2003)</a> demonstrated that myotilin directly binds F-actin (see <a href="/entry/102610">102610</a>), efficiently crosslinks actin filaments alone or in concert with alpha-actinin, and prevents filament disassembly induced by latrunculin A. Myotilin formed dimers via its C-terminal half, which may be necessary for the actin-bundling activity. Overexpression of full-length myotilin (but not the C-terminal half) induced formation of thick actin cables in nonmuscle cells devoid of endogenous myotilin. The expression of myotilin in muscle cells was tightly regulated to the later stages of in vitro myofibrillogenesis, when preassembled myofibrils began to align. Expression of either N- or C-terminally truncated myotilin fragments (but not wildtype myotilin) in differentiating myocytes led to myofibril disarray. <a href="#8" class="mim-tip-reference" title="Salmikangas, P., van der Ven, P. F. M., Lalowski, M., Taivainen, A., Zhao, F., Suila, H., Schroder, R., Lappalainen, P., Furst, D. O., Carpen, O. <strong>Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.</strong> Hum. Molec. Genet. 12: 189-203, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12499399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12499399</a>] [<a href="https://doi.org/10.1093/hmg/ddg020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12499399">Salmikangas et al. (2003)</a> concluded that myotilin plays an indispensable role in stabilization and anchorage of thin filaments, which may be a prerequisite for correct Z disc organization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12499399" 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><strong><em>Myofibrillar Myopathy 3</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C. <strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong> Hum. Molec. Genet. 9: 2141-2147, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958653</a>] [<a href="https://doi.org/10.1093/hmg/9.14.2141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958653">Hauser et al. (2000)</a> identified a heterozygous mutation in the myotilin gene (T57I; <a href="#0001">604103.0001</a>) in affected members of a large North American family of German descent diagnosed with limb-girdle muscular dystrophy (LGMD1A), later classified as myofibrillar myopathy-3 (MFM3; <a href="/entry/609200">609200</a>) (<a href="#10" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. <strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong> Neuromusc. Disord. 28: 702-710, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>] [<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30055862">Straub et al., 2018</a>). The mutant allele was transcribed, and normal levels of correctly localized myotilin protein were seen in muscle. The mutation did not disrupt binding to alpha-actinin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=30055862+10958653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> identified mutations in the MYOT gene (<a href="#0002">604103.0002</a>-<a href="#0005">604103.0005</a>) in 6 of 57 patients with myofibrillar myopathy. The authors termed the disorder 'myotilinopathy' to distinguish it from other forms of myofibrillar myopathy. One of the mutations, ser55 to phe (S55F; <a href="#0002">604103.0002</a>), had previously been identified in a patient diagnosed with LGMD1A. All of the mutations occurred in a serine residue in serine-rich exon 2 of the protein, suggesting it is a hotspot for mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" 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 21 affected members of a large kindred with myofibrillar myopathy-3 (MFM3; <a href="/entry/609200">609200</a>), originally reported by <a href="#2" class="mim-tip-reference" title="Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D. <strong>Autosomal dominant 'spheroid body myopathy'.</strong> Muscle Nerve 1: 14-26, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>] [<a href="https://doi.org/10.1002/mus.880010104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="571956">Goebel et al. (1978)</a> as 'spheroid body myopathy,' <a href="#1" class="mim-tip-reference" title="Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. <strong>A mutation in myotilin causes spheroid body myopathy.</strong> Neurology 65: 1936-1940, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380616</a>] [<a href="https://doi.org/10.1212/01.wnl.0000188872.28149.9a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380616">Foroud et al. (2005)</a> identified a heterozygous mutation in the TTID gene (S39F; <a href="#0006">604103.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16380616+571956" 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="Moza, M., Mologni, L., Trokovic, R., Faulkner, G., Partanen, J., Carpen, O. <strong>Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.</strong> Molec. Cell. Biol. 27: 244-252, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17074808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17074808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17074808[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/10.1128/MCB.00561-06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17074808">Moza et al. (2007)</a> obtained Myo -/- mice at a normal mendelian ratio. Myo -/- mice were indistinguishable from wildtype, with normal growth, fertility, and life span and normal skeletal and cardiac muscle appearance, strength, and performance. Light and transmission electron microscopy revealed complete integrity of Myo -/- sarcomeres and Z discs. However, telethonin (TCAP; <a href="/entry/604488">604488</a>), a small Z disc protein, was upregulated in Myo -/- skeletal muscle, and more weakly in Myo -/- cardiac muscle, at both the mRNA and protein level. <a href="#5" class="mim-tip-reference" title="Moza, M., Mologni, L., Trokovic, R., Faulkner, G., Partanen, J., Carpen, O. <strong>Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.</strong> Molec. Cell. Biol. 27: 244-252, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17074808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17074808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17074808[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/10.1128/MCB.00561-06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17074808">Moza et al. (2007)</a> concluded that MYO is not required for striated muscle development or function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17074808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604103[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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<strong>.0001 MYOPATHY, MYOFIBRILLAR, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28937597 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28937597;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=rs28937597" 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=rs28937597" 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=RCV000424803 OR RCV000639976" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000424803, RCV000639976" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000424803...</a>
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<p>In affected members of a large North American family of German descent diagnosed with a form of limb-girdle muscular dystrophy (LGMD1A), later reclassified as myofibrillar myopathy-3 (MFM3; <a href="/entry/609200">609200</a>) by <a href="#10" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. <strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong> Neuromusc. Disord. 28: 702-710, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>] [<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30055862">Straub et al. (2018)</a>, <a href="#4" class="mim-tip-reference" title="Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C. <strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong> Hum. Molec. Genet. 9: 2141-2147, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958653</a>] [<a href="https://doi.org/10.1093/hmg/9.14.2141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958653">Hauser et al. (2000)</a> identified a 450C-T missense mutation in the TTID gene, resulting in the conversion of thr57 to ile (T57I). The mutation was not found in 396 control chromosomes. The mutant allele was transcribed, and normal levels of correctly localized myotilin protein were seen in LGMD1A muscle. The mutation did not disrupt binding to alpha-actinin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=30055862+10958653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 MYOPATHY, MYOFIBRILLAR, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908457 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908457;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=rs121908457" 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=rs121908457" 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=RCV000414759 OR RCV000626902 OR RCV000794536 OR RCV001091589" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000414759, RCV000626902, RCV000794536, RCV001091589" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000414759...</a>
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<p><a href="#3" class="mim-tip-reference" title="Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., Rosa, A. L. <strong>Myotilin mutation found in second pedigree with LGMD1A.</strong> Am. J. Hum. Genet. 71: 1428-1432, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12428213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12428213</a>] [<a href="https://doi.org/10.1086/344532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12428213">Hauser et al. (2002)</a> performed a mutation screening of 86 families with a variety of neuromuscular disorders. In an Argentinian family with a diagnosis of limb-girdle muscular dystrophy (LGMD1A), later reclassified as myofibrillar myopathy-3 (MFM3; <a href="/entry/609200">609200</a>) by <a href="#10" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. <strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong> Neuromusc. Disord. 28: 702-710, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>] [<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30055862">Straub et al. (2018)</a>, they identified a TTID mutation predicted to result in the conversion of serine-55 to phenylalanine (S55F). The mutation was located in the unique N-terminal domain of myotilin, only 2 residues from the thr57-to-ile mutation (<a href="#0001">604103.0001</a>). Both mutations are located outside the alpha-actinin and gamma-filamin binding sites within myotilin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12428213+30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> identified the S55F mutation in a woman with MFM3. The patient had slowly progressive muscle weakness and wasting, distal greater than proximal, and peripheral neuropathy. She had an affected brother with cardiomyopathy and an affected son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MYOPATHY, MYOFIBRILLAR, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908458 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908458;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/rs121908458?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=rs121908458" 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=rs121908458" 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=RCV000006193 OR RCV000239643 OR RCV000725007" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006193, RCV000239643, RCV000725007" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006193...</a>
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<p>In 3 unrelated patients with myofibrillar myopathy (MFM3; <a href="/entry/609200">609200</a>), <a href="#9" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> identified a heterozygous 459C-G transversion in exon 2 of the TTID gene, resulting in a ser60-to-cys (S60C) substitution in the hydrophobic stretch of the protein. The patients had distal muscle weakness and peripheral neuropathy. One of the patients had cardiomyopathy and 2 had increased serum creatine kinase. The S60C mutation was not identified in 200 control chromosomes. Another unrelated patient had a different mutation in the same codon (S60F; <a href="#0004">604103.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MYOPATHY, MYOFIBRILLAR, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908458 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908458;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/rs121908458?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=rs121908458" 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=rs121908458" 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=RCV000006194 OR RCV000725464 OR RCV003415664" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006194, RCV000725464, RCV003415664" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006194...</a>
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<p>In a patient with myofibrillar myopathy (MFM3; <a href="/entry/609200">609200</a>), <a href="#9" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> identified a heterozygous 459C-T transition in exon 2 of the TTID gene, resulting in a ser60-to-phe (S60F) substitution in the hydrophobic stretch of the protein. The patient had proximal muscle weakness, cardiomyopathy, and peripheral neuropathy. The mutation was not identified in 200 control chromosomes. Three other patients had a different mutation in the same codon (S60C; <a href="#0003">604103.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" 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=RCV000006195" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006195" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006195</a>
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<p>In a patient with myofibrillar myopathy (MFM3; <a href="/entry/609200">609200</a>), <a href="#9" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> identified a heterozygous 564G-T transversion in exon 2 of the TTID gene, resulting in a ser95-to-ile (S95I) substitution. The mutation lies in the alpha-actinin (<a href="/entry/102575">102575</a>)-binding domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MYOPATHY, MYOFIBRILLAR, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908461 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908461;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=rs121908461" 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=rs121908461" 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=RCV000516381 OR RCV002512824" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000516381, RCV002512824" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000516381...</a>
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<p>In 21 affected members of a large kindred with myofibrillar myopathy-3 (MFM3; <a href="/entry/609200">609200</a>), originally reported as 'spheroid body myopathy' by <a href="#2" class="mim-tip-reference" title="Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D. <strong>Autosomal dominant 'spheroid body myopathy'.</strong> Muscle Nerve 1: 14-26, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>] [<a href="https://doi.org/10.1002/mus.880010104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="571956">Goebel et al. (1978)</a>, <a href="#1" class="mim-tip-reference" title="Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. <strong>A mutation in myotilin causes spheroid body myopathy.</strong> Neurology 65: 1936-1940, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380616</a>] [<a href="https://doi.org/10.1212/01.wnl.0000188872.28149.9a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380616">Foroud et al. (2005)</a> identified a heterozygous 116C-T transition in exon 2 of the TTID gene, resulting in a ser39-to-phe (S39F) substitution. The mutation was not identified in 135 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16380616+571956" 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> rs387906882 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906882;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/rs387906882?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=rs387906882" 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=rs387906882" 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=RCV000023360 OR RCV001588824" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023360, RCV001588824" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023360...</a>
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<p>In a Turkish woman diagnosed with a form of limb-girdle muscular dystrophy (LGMD1A), later reclassified as myofibrillar myopathy (MFM3; <a href="/entry/609200">609200</a>) by <a href="#10" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. <strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong> Neuromusc. Disord. 28: 702-710, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>] [<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30055862">Straub et al. (2018)</a>, <a href="#6" class="mim-tip-reference" title="Reilich, P., Krause, S., Schramm, N., Klutzny, U., Bulst, S., Zehetmayer, B., Schneiderat, P., Walter, M. C., Schoser, B., Lochmuller, H. <strong>A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).</strong> J. Neurol. 258: 1437-1444, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21336781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21336781</a>] [<a href="https://doi.org/10.1007/s00415-011-5953-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21336781">Reilich et al. (2011)</a> identified a heterozygous 17G-A transition in exon 2 of the TTID gene, resulting in an arg6-to-his (R6H) substitution in a highly conserved residue. The mutation was not found in 70 Turkish control chromosomes or in 140 European control chromosomes. The patient had a rapidly progressive disease course. She developed progressive proximal weakness of the lower limbs at age 40 years followed by proximal upper limb weakness, and subsequently developed mild distal muscle weakness. She was wheelchair-dependent at age 50. Within the next 3 years, she developed respiratory insufficiency and dysphagia, resulting in death from pneumonia at age 55. Muscle imaging showed fatty degeneration of most proximal muscles in both the upper and lower limbs, as well as in the thoracic and abdominal cavities. Muscle biopsy at age 40 showed a mild myopathic pattern with increased fiber size variability, some central nuclei, some autophagocytic vacuoles, and mild fibrosis; there were no signs of a myofibrillar myopathy. The patient's mother and 1 sister were reportedly less severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=30055862+21336781" 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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Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C.
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<strong>A mutation in myotilin causes spheroid body myopathy.</strong>
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Neurology 65: 1936-1940, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380616" 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/10.1212/01.wnl.0000188872.28149.9a" target="_blank">Full Text</a>]
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Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D.
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<strong>Autosomal dominant 'spheroid body myopathy'.</strong>
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Muscle Nerve 1: 14-26, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=571956" 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/mus.880010104" target="_blank">Full Text</a>]
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Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., Rosa, A. L.
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<strong>Myotilin mutation found in second pedigree with LGMD1A.</strong>
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Am. J. Hum. Genet. 71: 1428-1432, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12428213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12428213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12428213" 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/10.1086/344532" target="_blank">Full Text</a>]
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Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C.
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<strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong>
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Hum. Molec. Genet. 9: 2141-2147, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10958653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Moza, M., Mologni, L., Trokovic, R., Faulkner, G., Partanen, J., Carpen, O.
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<strong>Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.</strong>
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Molec. Cell. Biol. 27: 244-252, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17074808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17074808</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17074808[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=17074808" 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/10.1128/MCB.00561-06" target="_blank">Full Text</a>]
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Reilich, P., Krause, S., Schramm, N., Klutzny, U., Bulst, S., Zehetmayer, B., Schneiderat, P., Walter, M. C., Schoser, B., Lochmuller, H.
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<strong>A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).</strong>
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J. Neurol. 258: 1437-1444, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21336781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21336781</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21336781" 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/s00415-011-5953-9" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Salmikangas1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Salmikangas, P., Mykkanen, O.-M., Gronholm, M., Heiska, L., Kere, J., Carpen, O.
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<strong>Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.</strong>
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Hum. Molec. Genet. 8: 1329-1336, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369880" 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/hmg/8.7.1329" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Salmikangas2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Salmikangas, P., van der Ven, P. F. M., Lalowski, M., Taivainen, A., Zhao, F., Suila, H., Schroder, R., Lappalainen, P., Furst, D. O., Carpen, O.
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<strong>Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.</strong>
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Hum. Molec. Genet. 12: 189-203, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12499399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12499399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12499399" 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/hmg/ddg020" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Selcen2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Selcen, D., Engel, A. G.
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<strong>Mutations in myotilin cause myofibrillar myopathy.</strong>
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Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" 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/10.1212/01.wnl.0000123576.74801.75" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Straub2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Straub, V., Murphy, A., Udd, B.
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<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
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Neuromusc. Disord. 28: 702-710, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<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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Cassandra L. Kniffin - updated : 03/23/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 6/3/2013<br>Cassandra L. Kniffin - updated : 9/12/2011<br>Cassandra L. Kniffin - updated : 4/10/2006<br>Cassandra L. Kniffin - updated : 3/2/2005<br>George E. Tiller - updated : 10/26/2004<br>Victor A. McKusick - updated : 1/8/2003<br>George E. Tiller - updated : 11/17/2000
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/5/1999
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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="editHistory" class="mim-anchor"></a>
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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 : 03/23/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/26/2018<br>carol : 09/25/2018<br>alopez : 11/20/2014<br>carol : 8/7/2013<br>carol : 8/5/2013<br>carol : 7/2/2013<br>mgross : 6/3/2013<br>carol : 9/20/2011<br>ckniffin : 9/12/2011<br>terry : 7/3/2008<br>carol : 4/10/2006<br>ckniffin : 4/10/2006<br>tkritzer : 3/10/2005<br>ckniffin : 3/2/2005<br>tkritzer : 11/3/2004<br>terry : 10/26/2004<br>cwells : 1/13/2003<br>terry : 1/8/2003<br>joanna : 12/7/2000<br>carol : 12/6/2000<br>mcapotos : 11/28/2000<br>terry : 11/17/2000<br>mgross : 12/1/1999<br>jlewis : 8/5/1999
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</span>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604103
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MYOTILIN; MYOT
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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MYO<br />
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TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MYOT</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: 5q31.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:137,867,860-137,887,851 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<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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<tr class="active">
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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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5q31.2
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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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Myopathy, myofibrillar, 3
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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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609200
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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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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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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</h4>
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</div>
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<span class="mim-text-font">
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<p>Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN; 188840), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1; 102575), an actin crosslinking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy.</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>Salmikangas et al. (1999) described a novel 57-kD cytoskeletal protein, myotilin. Its N-terminal sequence is unique, but the C-terminal half contains 2 Ig-like domains homologous to titin. Salmikangas et al. (1999) found that myotilin is expressed in skeletal and cardiac muscle, colocalizes with alpha-actinin in sarcomeric I bands, and directly interacts with alpha-actinin. </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>By radiation hybrid mapping, Salmikangas et al. (1999) located the myotilin gene on 5q31 between markers AFM350yB1 and D5S500. Muscle specificity and apparent role as a sarcomeric structural protein raised the possibility that defects in the myotilin gene may cause muscular dystrophy. </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>Salmikangas et al. (2003) demonstrated that myotilin directly binds F-actin (see 102610), efficiently crosslinks actin filaments alone or in concert with alpha-actinin, and prevents filament disassembly induced by latrunculin A. Myotilin formed dimers via its C-terminal half, which may be necessary for the actin-bundling activity. Overexpression of full-length myotilin (but not the C-terminal half) induced formation of thick actin cables in nonmuscle cells devoid of endogenous myotilin. The expression of myotilin in muscle cells was tightly regulated to the later stages of in vitro myofibrillogenesis, when preassembled myofibrils began to align. Expression of either N- or C-terminally truncated myotilin fragments (but not wildtype myotilin) in differentiating myocytes led to myofibril disarray. Salmikangas et al. (2003) concluded that myotilin plays an indispensable role in stabilization and anchorage of thin filaments, which may be a prerequisite for correct Z disc organization. </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><strong><em>Myofibrillar Myopathy 3</em></strong></p><p>
|
|
Hauser et al. (2000) identified a heterozygous mutation in the myotilin gene (T57I; 604103.0001) in affected members of a large North American family of German descent diagnosed with limb-girdle muscular dystrophy (LGMD1A), later classified as myofibrillar myopathy-3 (MFM3; 609200) (Straub et al., 2018). The mutant allele was transcribed, and normal levels of correctly localized myotilin protein were seen in muscle. The mutation did not disrupt binding to alpha-actinin. </p><p>Selcen and Engel (2004) identified mutations in the MYOT gene (604103.0002-604103.0005) in 6 of 57 patients with myofibrillar myopathy. The authors termed the disorder 'myotilinopathy' to distinguish it from other forms of myofibrillar myopathy. One of the mutations, ser55 to phe (S55F; 604103.0002), had previously been identified in a patient diagnosed with LGMD1A. All of the mutations occurred in a serine residue in serine-rich exon 2 of the protein, suggesting it is a hotspot for mutation. </p><p>In 21 affected members of a large kindred with myofibrillar myopathy-3 (MFM3; 609200), originally reported by Goebel et al. (1978) as 'spheroid body myopathy,' Foroud et al. (2005) identified a heterozygous mutation in the TTID gene (S39F; 604103.0006). </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>Animal Model</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>Moza et al. (2007) obtained Myo -/- mice at a normal mendelian ratio. Myo -/- mice were indistinguishable from wildtype, with normal growth, fertility, and life span and normal skeletal and cardiac muscle appearance, strength, and performance. Light and transmission electron microscopy revealed complete integrity of Myo -/- sarcomeres and Z discs. However, telethonin (TCAP; 604488), a small Z disc protein, was upregulated in Myo -/- skeletal muscle, and more weakly in Myo -/- cardiac muscle, at both the mRNA and protein level. Moza et al. (2007) concluded that MYO is not required for striated muscle development or function. </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>7 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">
|
|
<strong>.0001 MYOPATHY, MYOFIBRILLAR, 3</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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MYOT, THR57ILE
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<br />
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SNP: rs28937597,
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ClinVar: RCV000424803, RCV000639976
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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 North American family of German descent diagnosed with a form of limb-girdle muscular dystrophy (LGMD1A), later reclassified as myofibrillar myopathy-3 (MFM3; 609200) by Straub et al. (2018), Hauser et al. (2000) identified a 450C-T missense mutation in the TTID gene, resulting in the conversion of thr57 to ile (T57I). The mutation was not found in 396 control chromosomes. The mutant allele was transcribed, and normal levels of correctly localized myotilin protein were seen in LGMD1A muscle. The mutation did not disrupt binding to alpha-actinin. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 MYOPATHY, MYOFIBRILLAR, 3</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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MYOT, SER55PHE
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<br />
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SNP: rs121908457,
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ClinVar: RCV000414759, RCV000626902, RCV000794536, RCV001091589
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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>Hauser et al. (2002) performed a mutation screening of 86 families with a variety of neuromuscular disorders. In an Argentinian family with a diagnosis of limb-girdle muscular dystrophy (LGMD1A), later reclassified as myofibrillar myopathy-3 (MFM3; 609200) by Straub et al. (2018), they identified a TTID mutation predicted to result in the conversion of serine-55 to phenylalanine (S55F). The mutation was located in the unique N-terminal domain of myotilin, only 2 residues from the thr57-to-ile mutation (604103.0001). Both mutations are located outside the alpha-actinin and gamma-filamin binding sites within myotilin. </p><p>Selcen and Engel (2004) identified the S55F mutation in a woman with MFM3. The patient had slowly progressive muscle weakness and wasting, distal greater than proximal, and peripheral neuropathy. She had an affected brother with cardiomyopathy and an affected son. </p>
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</span>
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</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MYOPATHY, MYOFIBRILLAR, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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MYOT, SER60CYS
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<br />
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SNP: rs121908458,
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gnomAD: rs121908458,
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ClinVar: RCV000006193, RCV000239643, RCV000725007
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|
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|
|
</span>
|
|
</div>
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|
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|
<div>
|
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<span class="mim-text-font">
|
|
<p>In 3 unrelated patients with myofibrillar myopathy (MFM3; 609200), Selcen and Engel (2004) identified a heterozygous 459C-G transversion in exon 2 of the TTID gene, resulting in a ser60-to-cys (S60C) substitution in the hydrophobic stretch of the protein. The patients had distal muscle weakness and peripheral neuropathy. One of the patients had cardiomyopathy and 2 had increased serum creatine kinase. The S60C mutation was not identified in 200 control chromosomes. Another unrelated patient had a different mutation in the same codon (S60F; 604103.0004). </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MYOPATHY, MYOFIBRILLAR, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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MYOT, SER60PHE
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<br />
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|
|
SNP: rs121908458,
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|
|
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gnomAD: rs121908458,
|
|
|
|
|
|
ClinVar: RCV000006194, RCV000725464, RCV003415664
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with myofibrillar myopathy (MFM3; 609200), Selcen and Engel (2004) identified a heterozygous 459C-T transition in exon 2 of the TTID gene, resulting in a ser60-to-phe (S60F) substitution in the hydrophobic stretch of the protein. The patient had proximal muscle weakness, cardiomyopathy, and peripheral neuropathy. The mutation was not identified in 200 control chromosomes. Three other patients had a different mutation in the same codon (S60C; 604103.0003). </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MYOPATHY, MYOFIBRILLAR, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYOT, SER95ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908460,
|
|
|
|
|
|
|
|
ClinVar: RCV000006195
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with myofibrillar myopathy (MFM3; 609200), Selcen and Engel (2004) identified a heterozygous 564G-T transversion in exon 2 of the TTID gene, resulting in a ser95-to-ile (S95I) substitution. The mutation lies in the alpha-actinin (102575)-binding domain of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MYOPATHY, MYOFIBRILLAR, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
MYOT, SER39PHE
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs121908461,
|
|
|
|
|
|
|
|
ClinVar: RCV000516381, RCV002512824
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 21 affected members of a large kindred with myofibrillar myopathy-3 (MFM3; 609200), originally reported as 'spheroid body myopathy' by Goebel et al. (1978), Foroud et al. (2005) identified a heterozygous 116C-T transition in exon 2 of the TTID gene, resulting in a ser39-to-phe (S39F) substitution. The mutation was not identified in 135 control individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MYOPATHY, MYOFIBRILLAR, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYOT, ARG6HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906882,
|
|
|
|
|
|
gnomAD: rs387906882,
|
|
|
|
|
|
ClinVar: RCV000023360, RCV001588824
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish woman diagnosed with a form of limb-girdle muscular dystrophy (LGMD1A), later reclassified as myofibrillar myopathy (MFM3; 609200) by Straub et al. (2018), Reilich et al. (2011) identified a heterozygous 17G-A transition in exon 2 of the TTID gene, resulting in an arg6-to-his (R6H) substitution in a highly conserved residue. The mutation was not found in 70 Turkish control chromosomes or in 140 European control chromosomes. The patient had a rapidly progressive disease course. She developed progressive proximal weakness of the lower limbs at age 40 years followed by proximal upper limb weakness, and subsequently developed mild distal muscle weakness. She was wheelchair-dependent at age 50. Within the next 3 years, she developed respiratory insufficiency and dysphagia, resulting in death from pneumonia at age 55. Muscle imaging showed fatty degeneration of most proximal muscles in both the upper and lower limbs, as well as in the thoracic and abdominal cavities. Muscle biopsy at age 40 showed a mild myopathic pattern with increased fiber size variability, some central nuclei, some autophagocytic vacuoles, and mild fibrosis; there were no signs of a myofibrillar myopathy. The patient's mother and 1 sister were reportedly less severely affected. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
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|
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|
|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C.
|
|
<strong>A mutation in myotilin causes spheroid body myopathy.</strong>
|
|
Neurology 65: 1936-1940, 2005.
|
|
|
|
|
|
[PubMed: 16380616]
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|
|
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000188872.28149.9a]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D.
|
|
<strong>Autosomal dominant 'spheroid body myopathy'.</strong>
|
|
Muscle Nerve 1: 14-26, 1978.
|
|
|
|
|
|
[PubMed: 571956]
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|
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|
|
[Full Text: https://doi.org/10.1002/mus.880010104]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., Rosa, A. L.
|
|
<strong>Myotilin mutation found in second pedigree with LGMD1A.</strong>
|
|
Am. J. Hum. Genet. 71: 1428-1432, 2002.
|
|
|
|
|
|
[PubMed: 12428213]
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|
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|
|
[Full Text: https://doi.org/10.1086/344532]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C.
|
|
<strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong>
|
|
Hum. Molec. Genet. 9: 2141-2147, 2000.
|
|
|
|
|
|
[PubMed: 10958653]
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|
|
[Full Text: https://doi.org/10.1093/hmg/9.14.2141]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Moza, M., Mologni, L., Trokovic, R., Faulkner, G., Partanen, J., Carpen, O.
|
|
<strong>Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.</strong>
|
|
Molec. Cell. Biol. 27: 244-252, 2007.
|
|
|
|
|
|
[PubMed: 17074808]
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|
|
[Full Text: https://doi.org/10.1128/MCB.00561-06]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reilich, P., Krause, S., Schramm, N., Klutzny, U., Bulst, S., Zehetmayer, B., Schneiderat, P., Walter, M. C., Schoser, B., Lochmuller, H.
|
|
<strong>A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).</strong>
|
|
J. Neurol. 258: 1437-1444, 2011.
|
|
|
|
|
|
[PubMed: 21336781]
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|
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|
|
[Full Text: https://doi.org/10.1007/s00415-011-5953-9]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Salmikangas, P., Mykkanen, O.-M., Gronholm, M., Heiska, L., Kere, J., Carpen, O.
|
|
<strong>Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.</strong>
|
|
Hum. Molec. Genet. 8: 1329-1336, 1999.
|
|
|
|
|
|
[PubMed: 10369880]
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|
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[Full Text: https://doi.org/10.1093/hmg/8.7.1329]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Salmikangas, P., van der Ven, P. F. M., Lalowski, M., Taivainen, A., Zhao, F., Suila, H., Schroder, R., Lappalainen, P., Furst, D. O., Carpen, O.
|
|
<strong>Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.</strong>
|
|
Hum. Molec. Genet. 12: 189-203, 2003.
|
|
|
|
|
|
[PubMed: 12499399]
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddg020]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Selcen, D., Engel, A. G.
|
|
<strong>Mutations in myotilin cause myofibrillar myopathy.</strong>
|
|
Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.
|
|
|
|
|
|
[PubMed: 15111675]
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000123576.74801.75]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Straub, V., Murphy, A., Udd, B.
|
|
<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
|
|
Neuromusc. Disord. 28: 702-710, 2018.
|
|
|
|
|
|
[PubMed: 30055862]
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|
|
[Full Text: https://doi.org/10.1016/j.nmd.2018.05.007]
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</p>
|
|
</li>
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</ol>
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<div>
|
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<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 03/23/2023<br>Patricia A. Hartz - updated : 6/3/2013<br>Cassandra L. Kniffin - updated : 9/12/2011<br>Cassandra L. Kniffin - updated : 4/10/2006<br>Cassandra L. Kniffin - updated : 3/2/2005<br>George E. Tiller - updated : 10/26/2004<br>Victor A. McKusick - updated : 1/8/2003<br>George E. Tiller - updated : 11/17/2000
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 8/5/1999
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
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carol : 03/23/2023<br>carol : 09/26/2018<br>carol : 09/25/2018<br>alopez : 11/20/2014<br>carol : 8/7/2013<br>carol : 8/5/2013<br>carol : 7/2/2013<br>mgross : 6/3/2013<br>carol : 9/20/2011<br>ckniffin : 9/12/2011<br>terry : 7/3/2008<br>carol : 4/10/2006<br>ckniffin : 4/10/2006<br>tkritzer : 3/10/2005<br>ckniffin : 3/2/2005<br>tkritzer : 11/3/2004<br>terry : 10/26/2004<br>cwells : 1/13/2003<br>terry : 1/8/2003<br>joanna : 12/7/2000<br>carol : 12/6/2000<br>mcapotos : 11/28/2000<br>terry : 11/17/2000<br>mgross : 12/1/1999<br>jlewis : 8/5/1999
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