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<title>
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Entry
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- *616112 - LEIOMODIN 3; LMOD3
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</ul>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<p />
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*616112</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="#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="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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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>
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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/616112">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=ENSG00000163380;t=ENST00000420581" 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=56203" 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=616112" 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=ENSG00000163380;t=ENST00000420581" 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_001304418,NM_198271" 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_198271" 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=616112" 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://www.proteinatlas.org/search/LMOD3" 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/16553816,24657621,54607116,57997147,111309186,118572771,119585875,119585876,194390270,749502313" 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/Q0VAK6" 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=56203" 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=ENSG00000163380;t=ENST00000420581" 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=LMOD3" 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=LMOD3" 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+56203" 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/LMOD3" 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:56203" 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/56203" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr3&hgg_gene=ENST00000420581.7&hgg_start=69106065&hgg_end=69122595&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:6649" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616112[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=616112[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000163380" 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.gwascentral.org/search?q=LMOD3" 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=LMOD3" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LMOD3&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/PA30415" 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:6649" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0082582.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2444169" 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/LMOD3#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:2444169" 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/56203/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=56203" 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://wormbase.org/db/gene/gene?name=WBGene00006823;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-090313-353" 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">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:56203" 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=LMOD3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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616112
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LEIOMODIN 3; LMOD3
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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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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LMOD3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LMOD3</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/3/452?start=-3&limit=10&highlight=452">3p14.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:69106065-69122595&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">3:69,106,065-69,122,595</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<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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<a href="/geneMap/3/452?start=-3&limit=10&highlight=452">
|
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3p14.1
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Nemaline myopathy 10
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616165"> 616165 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<p>LMOD3 localizes close to the pointed ends of sarcomeric thin filaments in striated muscle and is predicted to play a role in stabilizing these filaments (<a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> cloned human LMOD3. The deduced protein has a predicted tropomyosin (see TPM1, <a href="/entry/191010">191010</a>)-binding helix near the N terminus, followed by an actin-binding helix, a glutamine-rich region, a leucine-rich repeat (LRR) domain, a proline-rich region, a basic region, and a WAS protein (<a href="/entry/301000">301000</a>) homology-2 (WH2) domain. In addition to the actin-binding helix, the LRR and WH2 domains are also predicted to bind actin. Western blot analysis detected higher expression of LMOD3 in adult human skeletal muscle than adult human heart. LMOD3 had an apparent molecular mass of about 80 kD in human muscle tissue and primary muscle cells. In skeletal muscle, LMOD3 expression was detected at all prenatal stages examined and in adult samples at all ages examined. In cultured human myoblasts and muscle biopsies, LMOD3 was expressed upon differentiation of myoblasts into myotubes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> found that both LMOD3 and LMOD2 (<a href="/entry/608006">608006</a>) increased the rate of actin polymerization in an in vitro actin nucleation assay in a dose-dependent manner. Both also bound alpha-tropomyosin N-terminal peptide, although LMOD2 showed a higher binding affinity than LMOD3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> determined that the LMOD3 gene contains 3 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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="#2" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 12/1/2014."None>Hartz (2014)</a> mapped the LMOD3 gene to chromosome 3p14.1 based on an alignment of the LMOD3 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK096900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK096900</a>) with the genomic sequence (GRCh38).</p>
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<p>In 21 patients from 14 families with severe congenital nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>), <a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> identified homozygous or compound heterozygous mutations in the LMOD3 gene (see, e.g., <a href="#0001">616112.0001</a>-<a href="#0005">616112.0005</a>). The mutations in the first 2 families were found by whole-exome sequencing; subsequent mutations were identified by direct sequencing of the LMOD3 gene in over 540 additional probands with nemaline myopathy. Almost all mutations were nonsense or frameshift and were predicted to result in a truncated protein; most skeletal muscle biopsies showed loss of LMOD3 protein, consistent with a loss of function. TMOD4 (<a href="/entry/605834">605834</a>) was also decreased in patient muscle biopsies. Most patients presented antenatally or at birth with severe muscle weakness, hypotonia, respiratory insufficiency, and feeding difficulties, and most died of respiratory failure in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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 4 unrelated adolescent or adult patients with a mild form of nemaline myopathy-10 from Austria or southern Germany, <a href="#3" class="mim-tip-reference" title="Schatz, U. A, Weiss, S., Wenninger, S., Schoser, B., Muss, W. H., Bittner, R. E., Schmidt, W. M., Schossig, A. S., Rudnik-Schoneborn, S., Baumann, M. <strong>Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.</strong> Neurology 91: e1690-e1694, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30291184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30291184</a>] [<a href="https://doi.org/10.1212/WNL.0000000000006428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30291184">Schatz et al. (2018)</a> identified biallelic missense mutations in the LMOD3 gene. All 4 patients carried an L550F mutation (<a href="#0006">616112.0006</a>) in homozygosity or in compound heterozygosity with a Q335R mutation (<a href="#0007">616112.0007</a>). The mutations were identified by whole-exome sequencing or by next-generation sequencing-based panel analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30291184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sisters with severe congenital nemaline myopathy-10, born to Turkish first-cousin parents, <a href="#1" class="mim-tip-reference" title="Abbott, M., Jain, M., Pferdehirt, R., Chen, Y., Tran, A., Duz, M. B., Seven, M., Gibs, R. A., Muzny, D., Lee, B., Marom, R., Burrage, L. C. <strong>Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.</strong> Am. J. Med. Genet. 173A: 2789-2794, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28815944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28815944</a>] [<a href="https://doi.org/10.1002/ajmg.a.38383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28815944">Abbott et al. (2017)</a> identified a homozygous frameshift mutation in the LMOD3 gene (<a href="#0001">616112.0001</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygosity in the parents. DNA from a third affected female sib was not available for testing. In addition to findings typical of NEM10, the patients had perinatal fractures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28815944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> found that morpholino-mediated knockdown of zebrafish lmod3 resulted in larvae with short bodies, bent tails, and reduced tail birefringence, consistent with abnormal skeletal muscle organization. Immunostaining revealed that lmod3-morphant muscle lacked well-ordered sarcomeres and showed aberrant accumulation of the Z-disc protein alpha-actinin (see <a href="/entry/102575">102575</a>), a major component of nemaline bodies. Electron microscopy confirmed abnormal skeletal muscle organization in lmod3 morphants. Behaviorally, lmod3 morphants showed reduced spontaneous coiling and touch-evoked escape responses. They also exhibited trunk muscle weakness due to reduced muscle size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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="/allelicVariants/616112" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=616112[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 NEMALINE MYOPATHY 10</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> rs727502797 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502797;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/rs727502797?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=rs727502797" 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=rs727502797" 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=RCV000149595" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149595" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149595</a>
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<p>In 2 sisters, born of consanguineous Algerian parents, with severe congenital nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>), <a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> identified a homozygous 1-bp duplication (c.138dupC) in the LMOD3 gene, resulting in a frameshift and premature termination (Ser47fsTer13). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Western blot analysis of patient muscle showed no LMOD3 expression, consistent with a complete loss of function. Both patients died in the neonatal period. The same homozygous mutation was subsequently found in a Belgian boy with the disorder who died at age 10 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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="#1" class="mim-tip-reference" title="Abbott, M., Jain, M., Pferdehirt, R., Chen, Y., Tran, A., Duz, M. B., Seven, M., Gibs, R. A., Muzny, D., Lee, B., Marom, R., Burrage, L. C. <strong>Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.</strong> Am. J. Med. Genet. 173A: 2789-2794, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28815944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28815944</a>] [<a href="https://doi.org/10.1002/ajmg.a.38383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28815944">Abbott et al. (2017)</a> identified the c.138dupC mutation in 2 sibs, born to first-cousin Turkish parents, with severe NEM10. The parents were heterozygous for the mutation. DNA from another affected sib was not available for testing. The 3 sibs died at 3, 6, and 43 days of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28815944" 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 NEMALINE MYOPATHY 10</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">rs727502798 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502798;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=rs727502798" 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=rs727502798" 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=RCV000149596" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149596" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149596</a>
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<p>In 2 Australian sisters with nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>), <a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> identified compound heterozygous mutations in the LMOD3 gene: an in-frame 3-bp deletion (c.1100_1102delACA), resulting in the deletion of residue asn367 (Asn367del), and a c.1201C-T transition, resulting in an arg401-to-ter (R401X; <a href="#0003">616112.0003</a>) substitution. The mutations, which were found by whole-exome sequencing, segregated with the disorder in the family. Western blot analysis of 1 patient showed that both mutant proteins were expressed in skeletal muscle. These 2 sisters were the only surviving patients among the cohort of 21 individuals with LMOD3 mutations. The girls were alive at ages 4 and 10 years, suggesting that one or both mutant proteins retained some residual function and conferred a milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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 NEMALINE MYOPATHY 10</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> rs724159964 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724159964;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/rs724159964?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=rs724159964" 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=rs724159964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the arg401-to-ter (R401X) mutation in the LMOD3 gene that was found in compound heterozygous state in 2 patients with nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>) by <a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a>, see <a href="#0002">616112.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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> rs727502799 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502799;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/rs727502799?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=rs727502799" 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=rs727502799" 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=RCV000149598 OR RCV000522872" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149598, RCV000522872" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149598...</a>
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<p>In 5 patients from 2 families of Pakistani and Afghan origin, respectively, with nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>), <a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> identified a homozygous 2-bp deletion (c.1099_1100delAA) in the LMOD3 gene, resulting in a frameshift and premature termination (Asn367GlnfsTer11). No LMOD3 was detected in skeletal muscle by Western blot analysis, consistent with a complete loss of function. All patients died in the neonatal period or during early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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">rs724159965 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724159965;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=rs724159965" 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=rs724159965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Swedish brothers with nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>), <a href="#4" class="mim-tip-reference" title="Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. <strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong> J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI75199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25250574">Yuen et al. (2014)</a> identified a homozygous c.1069G-T transversion in the LMOD3 gene, resulting in a glu357-to-ter (E357X) substitution. Both patients died in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25250574" 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 NEMALINE MYOPATHY 10</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">rs1057519128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519128;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=rs1057519128" 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=rs1057519128" 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=RCV000415924 OR RCV000754092" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000415924, RCV000754092" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000415924...</a>
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<p>In 4 unrelated adolescent or adult patients with a mild form of nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>) from Austria or southern Germany, <a href="#3" class="mim-tip-reference" title="Schatz, U. A, Weiss, S., Wenninger, S., Schoser, B., Muss, W. H., Bittner, R. E., Schmidt, W. M., Schossig, A. S., Rudnik-Schoneborn, S., Baumann, M. <strong>Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.</strong> Neurology 91: e1690-e1694, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30291184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30291184</a>] [<a href="https://doi.org/10.1212/WNL.0000000000006428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30291184">Schatz et al. (2018)</a> identified a c.1648C-T transition (c.1648C-T, NM_198271.4) in the LMOD3 gene, resulting in a leu550-to-phe (L550F) substitution. The mutation was found in homozygosity in 2 patients and in compound heterozygous state with a c.1004A-G transition, resulting in a gln335-to-arg (Q335R; <a href="#0007">616112.0007</a>) in the LRR domain, in the other 2 patients. The mutations occurred at highly conserved residues and were not found in the ExAC or gnomAD databases or in an in-house database. <a href="#3" class="mim-tip-reference" title="Schatz, U. A, Weiss, S., Wenninger, S., Schoser, B., Muss, W. H., Bittner, R. E., Schmidt, W. M., Schossig, A. S., Rudnik-Schoneborn, S., Baumann, M. <strong>Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.</strong> Neurology 91: e1690-e1694, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30291184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30291184</a>] [<a href="https://doi.org/10.1212/WNL.0000000000006428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30291184">Schatz et al. (2018)</a> suggested that the mild phenotype might be explained by a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30291184" 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">rs1057519129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519129;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=rs1057519129" 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=rs1057519129" 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=RCV000416034 OR RCV000754093" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000416034, RCV000754093" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000416034...</a>
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<p>For discussion of the c.1004A-G transition (c.1004A-G, NM_198271.4) in the LMOD3 gene, resulting in a gln335-to-arg (Q335R) substitution, that was found in compound heterozygous state in 2 patients with nemaline myopathy-10 (NEM10; <a href="/entry/616165">616165</a>) by <a href="#3" class="mim-tip-reference" title="Schatz, U. A, Weiss, S., Wenninger, S., Schoser, B., Muss, W. H., Bittner, R. E., Schmidt, W. M., Schossig, A. S., Rudnik-Schoneborn, S., Baumann, M. <strong>Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.</strong> Neurology 91: e1690-e1694, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30291184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30291184</a>] [<a href="https://doi.org/10.1212/WNL.0000000000006428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30291184">Schatz et al. (2018)</a>, see <a href="#0006">616112.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30291184" 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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Abbott, M., Jain, M., Pferdehirt, R., Chen, Y., Tran, A., Duz, M. B., Seven, M., Gibs, R. A., Muzny, D., Lee, B., Marom, R., Burrage, L. C.
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<strong>Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.</strong>
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Am. J. Med. Genet. 173A: 2789-2794, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28815944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28815944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28815944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.38383" target="_blank">Full Text</a>]
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Baltimore, Md. 12/1/2014.
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Schatz, U. A, Weiss, S., Wenninger, S., Schoser, B., Muss, W. H., Bittner, R. E., Schmidt, W. M., Schossig, A. S., Rudnik-Schoneborn, S., Baumann, M.
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<strong>Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.</strong>
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Neurology 91: e1690-e1694, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30291184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30291184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30291184" 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/WNL.0000000000006428" target="_blank">Full Text</a>]
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Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others.
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<strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong>
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J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25250574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25250574</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25250574[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=25250574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sonja A. Rasmussen - updated : 04/17/2019
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Sonja A. Rasmussen - updated : 01/18/2019<br>Cassandra L. Kniffin - updated : 1/2/2015
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Patricia A. Hartz : 12/1/2014
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carol : 02/11/2019<br>carol : 01/18/2019<br>carol : 08/11/2016<br>joanna : 06/29/2016<br>mcolton : 2/2/2015<br>carol : 1/5/2015<br>mcolton : 1/2/2015<br>ckniffin : 1/2/2015<br>mgross : 12/2/2014<br>mcolton : 12/1/2014
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LEIOMODIN 3; LMOD3
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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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<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: LMOD3</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 3p14.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:69,106,065-69,122,595 </span>
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
|
|
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>
|
|
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">
|
|
3p14.1
|
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</span>
|
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</td>
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|
|
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<td>
|
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<span class="mim-font">
|
|
Nemaline myopathy 10
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
616165
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|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
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<br />
|
|
</div>
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<div>
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|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>LMOD3 localizes close to the pointed ends of sarcomeric thin filaments in striated muscle and is predicted to play a role in stabilizing these filaments (Yuen et al., 2014). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yuen et al. (2014) cloned human LMOD3. The deduced protein has a predicted tropomyosin (see TPM1, 191010)-binding helix near the N terminus, followed by an actin-binding helix, a glutamine-rich region, a leucine-rich repeat (LRR) domain, a proline-rich region, a basic region, and a WAS protein (301000) homology-2 (WH2) domain. In addition to the actin-binding helix, the LRR and WH2 domains are also predicted to bind actin. Western blot analysis detected higher expression of LMOD3 in adult human skeletal muscle than adult human heart. LMOD3 had an apparent molecular mass of about 80 kD in human muscle tissue and primary muscle cells. In skeletal muscle, LMOD3 expression was detected at all prenatal stages examined and in adult samples at all ages examined. In cultured human myoblasts and muscle biopsies, LMOD3 was expressed upon differentiation of myoblasts into myotubes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yuen et al. (2014) found that both LMOD3 and LMOD2 (608006) increased the rate of actin polymerization in an in vitro actin nucleation assay in a dose-dependent manner. Both also bound alpha-tropomyosin N-terminal peptide, although LMOD2 showed a higher binding affinity than LMOD3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yuen et al. (2014) determined that the LMOD3 gene contains 3 coding exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hartz (2014) mapped the LMOD3 gene to chromosome 3p14.1 based on an alignment of the LMOD3 sequence (GenBank AK096900) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 21 patients from 14 families with severe congenital nemaline myopathy-10 (NEM10; 616165), Yuen et al. (2014) identified homozygous or compound heterozygous mutations in the LMOD3 gene (see, e.g., 616112.0001-616112.0005). The mutations in the first 2 families were found by whole-exome sequencing; subsequent mutations were identified by direct sequencing of the LMOD3 gene in over 540 additional probands with nemaline myopathy. Almost all mutations were nonsense or frameshift and were predicted to result in a truncated protein; most skeletal muscle biopsies showed loss of LMOD3 protein, consistent with a loss of function. TMOD4 (605834) was also decreased in patient muscle biopsies. Most patients presented antenatally or at birth with severe muscle weakness, hypotonia, respiratory insufficiency, and feeding difficulties, and most died of respiratory failure in early infancy. </p><p>In 4 unrelated adolescent or adult patients with a mild form of nemaline myopathy-10 from Austria or southern Germany, Schatz et al. (2018) identified biallelic missense mutations in the LMOD3 gene. All 4 patients carried an L550F mutation (616112.0006) in homozygosity or in compound heterozygosity with a Q335R mutation (616112.0007). The mutations were identified by whole-exome sequencing or by next-generation sequencing-based panel analysis. </p><p>In 2 sisters with severe congenital nemaline myopathy-10, born to Turkish first-cousin parents, Abbott et al. (2017) identified a homozygous frameshift mutation in the LMOD3 gene (616112.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygosity in the parents. DNA from a third affected female sib was not available for testing. In addition to findings typical of NEM10, the patients had perinatal fractures. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yuen et al. (2014) found that morpholino-mediated knockdown of zebrafish lmod3 resulted in larvae with short bodies, bent tails, and reduced tail birefringence, consistent with abnormal skeletal muscle organization. Immunostaining revealed that lmod3-morphant muscle lacked well-ordered sarcomeres and showed aberrant accumulation of the Z-disc protein alpha-actinin (see 102575), a major component of nemaline bodies. Electron microscopy confirmed abnormal skeletal muscle organization in lmod3 morphants. Behaviorally, lmod3 morphants showed reduced spontaneous coiling and touch-evoked escape responses. They also exhibited trunk muscle weakness due to reduced muscle size. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 NEMALINE MYOPATHY 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LMOD3, 1-BP DUP, 138C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs727502797,
|
|
|
|
|
|
gnomAD: rs727502797,
|
|
|
|
|
|
ClinVar: RCV000149595
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters, born of consanguineous Algerian parents, with severe congenital nemaline myopathy-10 (NEM10; 616165), Yuen et al. (2014) identified a homozygous 1-bp duplication (c.138dupC) in the LMOD3 gene, resulting in a frameshift and premature termination (Ser47fsTer13). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Western blot analysis of patient muscle showed no LMOD3 expression, consistent with a complete loss of function. Both patients died in the neonatal period. The same homozygous mutation was subsequently found in a Belgian boy with the disorder who died at age 10 months. </p><p>Abbott et al. (2017) identified the c.138dupC mutation in 2 sibs, born to first-cousin Turkish parents, with severe NEM10. The parents were heterozygous for the mutation. DNA from another affected sib was not available for testing. The 3 sibs died at 3, 6, and 43 days of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 NEMALINE MYOPATHY 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LMOD3, 3-BP DEL, 1100ACA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs727502798,
|
|
|
|
|
|
|
|
ClinVar: RCV000149596
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Australian sisters with nemaline myopathy-10 (NEM10; 616165), Yuen et al. (2014) identified compound heterozygous mutations in the LMOD3 gene: an in-frame 3-bp deletion (c.1100_1102delACA), resulting in the deletion of residue asn367 (Asn367del), and a c.1201C-T transition, resulting in an arg401-to-ter (R401X; 616112.0003) substitution. The mutations, which were found by whole-exome sequencing, segregated with the disorder in the family. Western blot analysis of 1 patient showed that both mutant proteins were expressed in skeletal muscle. These 2 sisters were the only surviving patients among the cohort of 21 individuals with LMOD3 mutations. The girls were alive at ages 4 and 10 years, suggesting that one or both mutant proteins retained some residual function and conferred a milder phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 NEMALINE MYOPATHY 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LMOD3, ARG401TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs724159964,
|
|
|
|
|
|
gnomAD: rs724159964,
|
|
|
|
|
|
ClinVar: RCV000149597
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg401-to-ter (R401X) mutation in the LMOD3 gene that was found in compound heterozygous state in 2 patients with nemaline myopathy-10 (NEM10; 616165) by Yuen et al. (2014), see 616112.0002. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NEMALINE MYOPATHY 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LMOD3, 2-BP DEL, 1099AA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs727502799,
|
|
|
|
|
|
gnomAD: rs727502799,
|
|
|
|
|
|
ClinVar: RCV000149598, RCV000522872
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 patients from 2 families of Pakistani and Afghan origin, respectively, with nemaline myopathy-10 (NEM10; 616165), Yuen et al. (2014) identified a homozygous 2-bp deletion (c.1099_1100delAA) in the LMOD3 gene, resulting in a frameshift and premature termination (Asn367GlnfsTer11). No LMOD3 was detected in skeletal muscle by Western blot analysis, consistent with a complete loss of function. All patients died in the neonatal period or during early infancy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NEMALINE MYOPATHY 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LMOD3, GLU357TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs724159965,
|
|
|
|
|
|
|
|
ClinVar: RCV000149599
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Swedish brothers with nemaline myopathy-10 (NEM10; 616165), Yuen et al. (2014) identified a homozygous c.1069G-T transversion in the LMOD3 gene, resulting in a glu357-to-ter (E357X) substitution. Both patients died in early infancy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 NEMALINE MYOPATHY 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LMOD3, LEU550PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057519128,
|
|
|
|
|
|
|
|
ClinVar: RCV000415924, RCV000754092
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated adolescent or adult patients with a mild form of nemaline myopathy-10 (NEM10; 616165) from Austria or southern Germany, Schatz et al. (2018) identified a c.1648C-T transition (c.1648C-T, NM_198271.4) in the LMOD3 gene, resulting in a leu550-to-phe (L550F) substitution. The mutation was found in homozygosity in 2 patients and in compound heterozygous state with a c.1004A-G transition, resulting in a gln335-to-arg (Q335R; 616112.0007) in the LRR domain, in the other 2 patients. The mutations occurred at highly conserved residues and were not found in the ExAC or gnomAD databases or in an in-house database. Schatz et al. (2018) suggested that the mild phenotype might be explained by a founder effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 NEMALINE MYOPATHY 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LMOD3, GLN335ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057519129,
|
|
|
|
|
|
|
|
ClinVar: RCV000416034, RCV000754093
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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<p>For discussion of the c.1004A-G transition (c.1004A-G, NM_198271.4) in the LMOD3 gene, resulting in a gln335-to-arg (Q335R) substitution, that was found in compound heterozygous state in 2 patients with nemaline myopathy-10 (NEM10; 616165) by Schatz et al. (2018), see 616112.0006. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Abbott, M., Jain, M., Pferdehirt, R., Chen, Y., Tran, A., Duz, M. B., Seven, M., Gibs, R. A., Muzny, D., Lee, B., Marom, R., Burrage, L. C.
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<strong>Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.</strong>
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Am. J. Med. Genet. 173A: 2789-2794, 2017.
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[PubMed: 28815944]
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[Full Text: https://doi.org/10.1002/ajmg.a.38383]
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<li>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/1/2014.
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</p>
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<li>
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Schatz, U. A, Weiss, S., Wenninger, S., Schoser, B., Muss, W. H., Bittner, R. E., Schmidt, W. M., Schossig, A. S., Rudnik-Schoneborn, S., Baumann, M.
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<strong>Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.</strong>
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Neurology 91: e1690-e1694, 2018.
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[PubMed: 30291184]
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[Full Text: https://doi.org/10.1212/WNL.0000000000006428]
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Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others.
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<strong>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.</strong>
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J. Clin. Invest. 124: 4693-4708, 2014. Note: Erratum: J. Clin. Invest. 125: 456 only, 2015.
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[PubMed: 25250574]
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[Full Text: https://doi.org/10.1172/JCI75199]
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Sonja A. Rasmussen - updated : 04/17/2019<br>Sonja A. Rasmussen - updated : 01/18/2019<br>Cassandra L. Kniffin - updated : 1/2/2015
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