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Entry
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- #160500 - MYOPATHY, DISTAL, 1; MPD1
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- OMIM
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<span class="h4">#160500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/160500"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS160500"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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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 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=" 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 in 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://clinicaltrials.gov/search?cond=MYOPATHY, DISTAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10782&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1433/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8950" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/laing-distal-myopathy" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=160500[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=59135" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></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/disease/DOID:0070197" 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="http://www.informatics.jax.org/disease/160500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001200/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070197" 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': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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|
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<strong>SNOMEDCT:</strong> 764859001<br />
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<strong>ORPHA:</strong> 59135<br />
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<strong>DO:</strong> 0070197<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
160500
|
|
</span>
|
|
</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>
|
|
<span class="mim-font">
|
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|
|
MYOPATHY, DISTAL, 1; MPD1
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MYOPATHY, LATE DISTAL HEREDITARY<br />
|
|
LAING DISTAL MYOPATHY<br />
|
|
MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT
|
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</span>
|
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</h4>
|
|
</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
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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>
|
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<span class="mim-font">
|
|
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92">
|
|
14q11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Laing distal myopathy
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/160500"> 160500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MYH7
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> 160760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/160500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS160500" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/160500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/160500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial muscle weakness, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277200</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neck muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dilated cardiomyopathy may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674759&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674759</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Weakness of ankle and toe extensor (dorsiflexor) muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674756</a>]</span><br /> -
|
|
Atrophy of ankle and toe extensor (dorsiflexor) muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674757</a>]</span><br /> -
|
|
Weakness of anterior compartment tibial muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834546&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834546</a>]</span><br /> -
|
|
Atrophy of anterior compartment tibial muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834547&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834547</a>]</span><br /> -
|
|
'Hanging' big toe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834548</a>]</span><br /> -
|
|
Gait difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
|
|
Myalgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
|
|
Hypertrophy of calf muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843057</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008981" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008981</a>]</span><br /> -
|
|
Weakness of long finger extensor muscles (occurs later) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834549&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834549</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009077</a>]</span><br /> -
|
|
Weakness of neck muscles may occur later <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834550</a>]</span><br /> -
|
|
Atrophy of neck muscles may occur later <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834551</a>]</span><br /> -
|
|
Proximal muscle weakness (occasional) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834552</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
|
|
EMG shows myopathic or neurogenic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277193</a>]</span><br /> -
|
|
Biopsy shows nonspecific myopathy without rimmed vacuoles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834553</a>]</span><br /> -
|
|
Angulated atrophic fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866145</a>]</span><br /> -
|
|
Hypotrophy of type 1 fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674758</a>]</span><br /> -
|
|
Type 1 fiber predominance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673678</a>]</span><br /> -
|
|
Fiber type grouping <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033685</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033685</a>]</span><br /> -
|
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Mitochondrial proliferation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2259852&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2259852</a>, <a href="https://bioportal.bioontology.org/search?q=C5574978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574978</a>]</span><br /> -
|
|
Ragged red fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275417</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003200" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003200</a>]</span><br /> -
|
|
Sarcoplasmic inclusions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277195&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277195</a>]</span><br /> -
|
|
Cores or minicores <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277196</a>]</span><br /> -
|
|
Abnormalities in myofibril organization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277197&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277197</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Normal to mildly increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850857</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Onset in infancy or childhood<br /> -
|
|
Later onset has been reported<br /> -
|
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Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
|
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Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
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Allelic to myosin storage myopathy (<a href="/entry/608358">608358</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, <a href="/entry/160760#0029">160760.0029</a>)<br />
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
|
Myopathy, distal
|
|
- <a href="/phenotypicSeries/PS160500">PS160500</a>
|
|
- 10 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618655"> Myopathy, distal, 6, adult onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618655"> 618655 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> ACTN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> 102573 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/333?start=-3&limit=10&highlight=333"> 2p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604454"> Welander distal myopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604454"> 604454 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> TIA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> 603518 </a>
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<span class="mim-font">
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<a href="/geneMap/2/351?start=-3&limit=10&highlight=351"> 2p13.2 </a>
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<span class="mim-font">
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<a href="/entry/606768"> Myopathy, distal, with anterior tibial onset </a>
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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 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 class="mim-font">
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<a href="/entry/606768"> 606768 </a>
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<a href="/entry/603009"> DYSF </a>
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<span class="mim-font">
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<a href="/entry/603009"> 603009 </a>
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<a href="/geneMap/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
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<span class="mim-font">
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<a href="/entry/614321"> Myopathy, distal, Tateyama type </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/601253"> CAV3 </a>
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<span class="mim-font">
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<a href="/entry/601253"> 601253 </a>
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<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
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<span class="mim-font">
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<a href="/entry/614065"> Myopathy, distal, 4 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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<a href="/entry/614065"> 614065 </a>
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<span class="mim-font">
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<a href="/entry/102565"> FLNC </a>
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<span class="mim-font">
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<a href="/entry/102565"> 102565 </a>
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<a href="/geneMap/9/187?start=-3&limit=10&highlight=187"> 9p13.3 </a>
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<span class="mim-font">
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<a href="/entry/605820"> Nonaka myopathy </a>
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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 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 class="mim-font">
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<a href="/entry/605820"> 605820 </a>
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<span class="mim-font">
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<a href="/entry/603824"> GNE </a>
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<span class="mim-font">
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<a href="/entry/603824"> 603824 </a>
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<a href="/geneMap/12/462?start=-3&limit=10&highlight=462"> 12q13.13 </a>
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<span class="mim-font">
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<a href="/entry/610099"> ?Myopathy, distal, 3 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<span class="mim-font">
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<a href="/entry/610099"> 610099 </a>
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<span class="mim-font">
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<a href="/entry/164017"> HNRNPA1 </a>
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<span class="mim-font">
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<a href="/entry/164017"> 164017 </a>
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<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
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<span class="mim-font">
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<a href="/entry/160500"> Laing distal myopathy </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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<a href="/entry/160500"> 160500 </a>
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<span class="mim-font">
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<a href="/entry/160760"> MYH7 </a>
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<span class="mim-font">
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<a href="/entry/160760"> 160760 </a>
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<a href="/geneMap/14/591?start=-3&limit=10&highlight=591"> 14q32.33 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/617030"> Myopathy, distal, 5 </a>
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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 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 class="mim-font">
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<a href="/entry/617030"> 617030 </a>
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<span class="mim-font">
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<a href="/entry/612498"> ADSS1 </a>
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<span class="mim-font">
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<a href="/entry/612498"> 612498 </a>
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<a href="/geneMap/X/111?start=-3&limit=10&highlight=111"> Xp22.12 </a>
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<span class="mim-font">
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<a href="/entry/301075"> Myopathy, distal, 7, adult-onset, X-linked </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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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 class="mim-font">
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<a href="/entry/301075"> 301075 </a>
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<span class="mim-font">
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<a href="/entry/300226"> SMPX </a>
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<span class="mim-font">
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<a href="/entry/300226"> 300226 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because distal myopathy-1 (MPD1), also known as Laing distal myopathy, is caused by heterozygous mutation in the MYH7 gene (<a href="/entry/160760">160760</a>), which encodes the myosin heavy chain of type 1 fibers of skeletal muscle and cardiac ventricles, on chromosome 14q11.</p><p>The MYH7 gene is mutated in both hypertrophic (see <a href="/entry/192600">192600</a>) and dilated (see <a href="/entry/115200">115200</a>) cardiomyopathy as well as in myosin storage myopathy (<a href="/entry/608358">608358</a>).</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<div class="mim-changed mim-change"><p>Distal myopathy-1 (MPD1) is an autosomal dominant myopathy in which selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal muscle groups, such as the hip abductors and rotators, the shoulder abductors, and in some patients the sternocleidomastoids. Age of onset, at 4 to 25 years, is earlier than in other autosomal dominant distal myopathies (summary by <a href="#6" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<strong>Clinical Features</strong>
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<p><a href="#4" class="mim-tip-reference" title="Laing, N. G., Laing, B. A., Meredith, C., Wilton, S. D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F. L., Kakulas, B. A. <strong>Autosomal dominant distal myopathy: linkage to chromosome 14.</strong> Am. J. Hum. Genet. 56: 422-427, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847377</a>]" pmid="7847377">Laing et al. (1995)</a> described a family with an autosomal dominant distal myopathy closely resembling that described in the original report of <a href="#2" class="mim-tip-reference" title="Gowers, W. R. <strong>A lecture on myopathy and a distal form.</strong> Brit. Med. J. 2: 89-92, 1902.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20760370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20760370</a>] [<a href="https://doi.org/10.1136/bmj.2.2167.89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20760370">Gowers (1902)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20760370+7847377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Scoppetta, C., Casali, C., La Cesa, I., Sermoni, A., Mercuri, B., Pierelli, F., Vaccario, M. L. <strong>Infantile autosomal dominant distal myopathy.</strong> Acta Neurol. Scand. 92: 122-126, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7484058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7484058</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1995.tb01024.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7484058">Scoppetta et al. (1995)</a> and <a href="#10" class="mim-tip-reference" title="Voit, T., Kutz, P., Leube, B., Neuen-Jacob, E., Schroder, J. M., Cavallotti, D., Vaccario, M. L., Schaper, J., Broich, P., Cohn, R., Baethmann, M., Gohlich-Ratmann, G., Scoppetta, C., Herrmann, R. <strong>Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.</strong> Neuromusc. Disord. 11: 11-19, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11166161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11166161</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00158-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11166161">Voit et al. (2001)</a> reported 2 families with autosomal dominant distal myopathy with clinical features similar to those reported by <a href="#4" class="mim-tip-reference" title="Laing, N. G., Laing, B. A., Meredith, C., Wilton, S. D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F. L., Kakulas, B. A. <strong>Autosomal dominant distal myopathy: linkage to chromosome 14.</strong> Am. J. Hum. Genet. 56: 422-427, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847377</a>]" pmid="7847377">Laing et al. (1995)</a>. Characteristics common to both families included onset in the second or third year of life, selective wasting and weakness of the anterior tibial and extensor digitorum longus muscles, a slowly progressive course, and, at later stages, involvement of hand extensors, neck flexor, and abdominal muscles. Some patients developed tremor. <a href="#11" class="mim-tip-reference" title="Zimprich, F., Djamshidian, A., Hainfellner, J. A., Budka, H., Zeitlhofer, J. <strong>An autosomal dominant early adult-onset distal muscular dystrophy.</strong> Muscle Nerve 23: 1876-1879, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102913</a>] [<a href="https://doi.org/10.1002/1097-4598(200012)23:12<1876::aid-mus13>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11102913">Zimprich et al. (2000)</a> described an Austrian family with a similar phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11166161+7484058+7847377+11102913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with 9 affected members spanning 3 generations, <a href="#5" class="mim-tip-reference" title="Mastaglia, F. L., Phillips, B. A., Cala, L. A., Meredith, C., Egli, S., Akkari, P. A., Laing, N. G. <strong>Early onset chromosome 14-linked distal myopathy (Laing).</strong> Neuromusc. Disord. 12: 350-357, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12062252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12062252</a>] [<a href="https://doi.org/10.1016/s0960-8966(01)00287-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12062252">Mastaglia et al. (2002)</a> described selective weakness of the ankle dorsiflexors and toe extensors, in particular the extensor hallucis longus. Ankle plantar flexors were normal, even in the most advanced cases. There was also weakness and atrophy of the anterior compartment muscles. Most cases had selective weakness of the long finger extensor muscles. None of the affected individuals had cardiomyopathy. Age at onset varied from 4 to 5 years to the early twenties. Muscle MRI showed atrophy of affected muscles, EMG gave a myopathic pattern, and muscle biopsy of 2 affected patients showed myopathic changes without rimmed vacuoles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12062252" 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="#3" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a> reported a large Italian American kindred in which at least 11 members spanning 3 generations were affected with an autosomal dominant distal myopathy. Clinical features included weakness of foot and toe extensor muscles, and some patients had proximal weakness. No patient had distal weakness of the upper extremities or neck muscles, even in advanced stages of the disease. The average age at symptom onset was 20 years. Two affected patients had signs of idiopathic dilated cardiomyopathy. <a href="#3" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a> noted that their family differed from the family reported by <a href="#4" class="mim-tip-reference" title="Laing, N. G., Laing, B. A., Meredith, C., Wilton, S. D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F. L., Kakulas, B. A. <strong>Autosomal dominant distal myopathy: linkage to chromosome 14.</strong> Am. J. Hum. Genet. 56: 422-427, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847377</a>]" pmid="7847377">Laing et al. (1995)</a> by the absence of upper extremity weakness and neck muscle weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12975303+7847377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Darin, N., Tajsharghi, H., Ostman-Smith, I., Gilljam, T., Oldfors, A. <strong>New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.</strong> Neurology 68: 2041-2042, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17548557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17548557</a>] [<a href="https://doi.org/10.1212/01.wnl.0000264430.55233.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17548557">Darin et al. (2007)</a> reported a Tanzanian boy with distal myopathy and mild dilated cardiomyopathy. He began walking on the toes at age 11 months and had Achilles tenotomy at age 6 years. Examination at age 7 showed weakness of the great toe and ankle dorsiflexors, atrophy of the anterior tibial muscles, weakness of the hip flexors, and decreased reflexes. Echocardiography showed mild left atrial enlargement and prolonged isovolumetric relaxation time. Skeletal muscle biopsy showed hypotrophy of type 1 fibers and apparent absence of type 2B fibers. Serum creatine kinase was mildly elevated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17548557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Garces-Sanchez, M., Azorin, I., Suominen, T., Sevilla, T., Mayordomo, F., Gomez, L., Marti, P., Maria Millan, J., Udd, B., Vilchez, J. J. <strong>MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.</strong> Neurology 75: 732-741, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20733148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20733148</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181eee4d5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20733148">Muelas et al. (2010)</a> identified the same mutation in the MYH7 gene (lys1729del; <a href="/entry/160760#0044">160760.0044</a>) in 29 clearly affected individuals from 4 unrelated families in the Safor region of Spain. There was great phenotypic variability. The age at onset ranged from congenital to 50 years, with a mean of 14 years. All patients presented with weakness of great toe/ankle dorsiflexors, and many had associated neck flexor (78%), finger extensor (78%), mild facial (70%), or proximal muscle (65%) weakness. There was atrophy of the anterior lower leg compartment muscles, which contrasted with calf hypertrophy. Some had more widespread proximal muscle involvement, resembling that seen in the allelic disorder myosin storage myopathy (<a href="/entry/608358">608358</a>). Variable findings included quadriceps atrophy, ankle retraction, pes cavus, scoliosis, claw toes, and high-arched palate. Five patients had cardiac abnormalities, including dilated cardiomyopathy, left ventricular relaxation impairment, and conduction abnormalities. The spectrum of disability ranged from asymptomatic to wheelchair-confined, but life expectancy was not affected. EMG showed myopathic as well as neurogenic features, and muscle biopsies yielded various findings, such as fiber type disproportion, core/minicore lesions, and mitochondrial abnormalities. Most patients had slow progression, but some were severely disabled, and many had myalgias. These findings expanded the phenotypic spectrum of Laing myopathy, but the wide spectrum associated with a single mutation was noteworthy. <a href="#7" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Garces-Sanchez, M., Azorin, I., Suominen, T., Sevilla, T., Mayordomo, F., Gomez, L., Marti, P., Maria Millan, J., Udd, B., Vilchez, J. J. <strong>MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.</strong> Neurology 75: 732-741, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20733148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20733148</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181eee4d5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20733148">Muelas et al. (2010)</a> also noted that the variable features could lead to misdiagnosis of neurogenic atrophy, congenital myopathies, or even mitochondrial myopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20733148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The disorder in the family studied by <a href="#4" class="mim-tip-reference" title="Laing, N. G., Laing, B. A., Meredith, C., Wilton, S. D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F. L., Kakulas, B. A. <strong>Autosomal dominant distal myopathy: linkage to chromosome 14.</strong> Am. J. Hum. Genet. 56: 422-427, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847377</a>]" pmid="7847377">Laing et al. (1995)</a> showed linkage of the locus, symbolized MPD1, to chromosome 14. A multipoint analysis assuming 100% penetrance and using MYH7 (<a href="/entry/160760">160760</a>) and 5 other markers gave a lod score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a lod score of 2.8 at this marker. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Linkage analysis in a large family with autosomal dominant distal myopathy reported by <a href="#5" class="mim-tip-reference" title="Mastaglia, F. L., Phillips, B. A., Cala, L. A., Meredith, C., Egli, S., Akkari, P. A., Laing, N. G. <strong>Early onset chromosome 14-linked distal myopathy (Laing).</strong> Neuromusc. Disord. 12: 350-357, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12062252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12062252</a>] [<a href="https://doi.org/10.1016/s0960-8966(01)00287-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12062252">Mastaglia et al. (2002)</a> yielded a maximum 2-point lod score of 2.9 at marker D14S262, and further analysis refined the candidate locus to a 24-cM region between D14S283 and D14S49. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12062252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large family with autosomal dominant distal myopathy, <a href="#3" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a> found linkage to chromosome 14q11-q13 (maximum 2-point lod score of 3.99 at marker D14S1459). Mutation analysis excluded the PABP2 gene (<a href="/entry/602279">602279</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12975303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MPD1 in the families reported by <a href="#6" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al. (2004)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 7 separate families with Laing distal myopathy, <a href="#6" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al. (2004)</a> sequenced the MYH7 gene, a positional candidate for the site of the causative mutation. They identified 5 heterozygous mutations in 6 families (see <a href="/entry/160760#0029">160760.0029</a>-<a href="/entry/160760#0030">160760.0030</a>) and no mutations in the seventh family. The family reported by <a href="#3" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a> had a deletion of lys1729 (<a href="/entry/160760#0044">160760.0044</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15322983+12975303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Tanzanian boy with Laing myopathy and mild cardiac involvement, <a href="#1" class="mim-tip-reference" title="Darin, N., Tajsharghi, H., Ostman-Smith, I., Gilljam, T., Oldfors, A. <strong>New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.</strong> Neurology 68: 2041-2042, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17548557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17548557</a>] [<a href="https://doi.org/10.1212/01.wnl.0000264430.55233.72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17548557">Darin et al. (2007)</a> identified a heterozygous mutation in the MYH7 gene (<a href="/entry/160760#0036">160760.0036</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17548557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G. <strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong> Am. J. Hum. Genet. 75: 703-708, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/424760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15322983">Meredith et al. (2004)</a> identified a heterozygous mutation in the MYH7 gene (lys1729del; <a href="/entry/160760#0044">160760.0044</a>) in affected members of an Italian American family with Laing distal myopathy reported by <a href="#3" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a>. <a href="#7" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Garces-Sanchez, M., Azorin, I., Suominen, T., Sevilla, T., Mayordomo, F., Gomez, L., Marti, P., Maria Millan, J., Udd, B., Vilchez, J. J. <strong>MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.</strong> Neurology 75: 732-741, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20733148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20733148</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181eee4d5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20733148">Muelas et al. (2010)</a> identified the lys1729del mutation in 29 clearly affected individuals from 4 unrelated families in the Safor region of Spain. <a href="#8" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Suominen, T., Espinos, C., Garces-Sanchez, M., Sevilla, T., Azorin, I., Millan, J. M., Udd, B., Vilchez, J. J. <strong>Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.</strong> Clin. Genet. 81: 491-494, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21395566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21395566</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01667.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21395566">Muelas et al. (2012)</a> demonstrated a common 41.2-kb short haplotype including the lys1729del mutation in both Spanish patients from the Safor region and in the Italian American family reported by <a href="#3" class="mim-tip-reference" title="Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K. <strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong> Arch. Neurol. 60: 1321-1325, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975303">Hedera et al. (2003)</a>, indicating a founder effect. However, microsatellite markers both up- and downstream of the mutation did not match, indicating multiple recombination events. The mutation was estimated to have been introduced into the Safor population about 375 to 420 years ago (15 generations ago). The region is located in the southeast of Valencia on the Mediterranean coast of Spain. <a href="#8" class="mim-tip-reference" title="Muelas, N., Hackman, P., Luque, H., Suominen, T., Espinos, C., Garces-Sanchez, M., Sevilla, T., Azorin, I., Millan, J. M., Udd, B., Vilchez, J. J. <strong>Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.</strong> Clin. Genet. 81: 491-494, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21395566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21395566</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01667.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21395566">Muelas et al. (2012)</a> hypothesized that the families from Safor were descendants of the Genoese who had repopulated this Spanish region in the 17th century after the Muslims were expelled; in fact, many of the surnames of the Safor families with Laing myopathy had an Italian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15322983+20733148+12975303+21395566" 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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Darin, N., Tajsharghi, H., Ostman-Smith, I., Gilljam, T., Oldfors, A.
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<strong>New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.</strong>
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Neurology 68: 2041-2042, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17548557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17548557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17548557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000264430.55233.72" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20760370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20760370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20760370" 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/10.1136/bmj.2.2167.89" target="_blank">Full Text</a>]
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Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K.
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<strong>The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.</strong>
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Arch. Neurol. 60: 1321-1325, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12975303" 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/10.1001/archneur.60.9.1321" target="_blank">Full Text</a>]
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Laing, N. G., Laing, B. A., Meredith, C., Wilton, S. D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F. L., Kakulas, B. A.
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<strong>Autosomal dominant distal myopathy: linkage to chromosome 14.</strong>
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Am. J. Hum. Genet. 56: 422-427, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mastaglia, F. L., Phillips, B. A., Cala, L. A., Meredith, C., Egli, S., Akkari, P. A., Laing, N. G.
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<strong>Early onset chromosome 14-linked distal myopathy (Laing).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12062252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12062252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12062252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(01)00287-5" target="_blank">Full Text</a>]
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Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G.
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<strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong>
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Am. J. Hum. Genet. 75: 703-708, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15322983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15322983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15322983[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15322983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/424760" target="_blank">Full Text</a>]
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Muelas, N., Hackman, P., Luque, H., Garces-Sanchez, M., Azorin, I., Suominen, T., Sevilla, T., Mayordomo, F., Gomez, L., Marti, P., Maria Millan, J., Udd, B., Vilchez, J. J.
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<strong>MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.</strong>
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Neurology 75: 732-741, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20733148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20733148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20733148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181eee4d5" target="_blank">Full Text</a>]
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Muelas, N., Hackman, P., Luque, H., Suominen, T., Espinos, C., Garces-Sanchez, M., Sevilla, T., Azorin, I., Millan, J. M., Udd, B., Vilchez, J. J.
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<strong>Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.</strong>
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Clin. Genet. 81: 491-494, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21395566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21395566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21395566" 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/10.1111/j.1399-0004.2011.01667.x" target="_blank">Full Text</a>]
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Scoppetta, C., Casali, C., La Cesa, I., Sermoni, A., Mercuri, B., Pierelli, F., Vaccario, M. L.
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<strong>Infantile autosomal dominant distal myopathy.</strong>
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Acta Neurol. Scand. 92: 122-126, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7484058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7484058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7484058" 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/10.1111/j.1600-0404.1995.tb01024.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Voit2001" class="mim-anchor"></a>
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Voit, T., Kutz, P., Leube, B., Neuen-Jacob, E., Schroder, J. M., Cavallotti, D., Vaccario, M. L., Schaper, J., Broich, P., Cohn, R., Baethmann, M., Gohlich-Ratmann, G., Scoppetta, C., Herrmann, R.
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<strong>Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.</strong>
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Neuromusc. Disord. 11: 11-19, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11166161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11166161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11166161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(00)00158-9" target="_blank">Full Text</a>]
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<a id="Zimprich2000" class="mim-anchor"></a>
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Zimprich, F., Djamshidian, A., Hainfellner, J. A., Budka, H., Zeitlhofer, J.
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<strong>An autosomal dominant early adult-onset distal muscular dystrophy.</strong>
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Muscle Nerve 23: 1876-1879, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1097-4598(200012)23:12<1876::aid-mus13>3.0.co;2-a" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 5/3/2012
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/7/2008<br>Victor A. McKusick - updated : 9/9/2004<br>Cassandra L. Kniffin - updated : 1/22/2004<br>Victor A. McKusick - updated : 1/19/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 02/04/2025
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carol : 01/06/2023<br>carol : 08/18/2016<br>carol : 04/15/2014<br>terry : 5/10/2012<br>carol : 5/9/2012<br>ckniffin : 5/3/2012<br>wwang : 7/7/2011<br>wwang : 7/1/2011<br>wwang : 11/29/2010<br>ckniffin : 10/26/2010<br>wwang : 1/17/2008<br>ckniffin : 1/7/2008<br>tkritzer : 9/9/2004<br>terry : 9/9/2004<br>joanna : 3/19/2004<br>tkritzer : 1/28/2004<br>ckniffin : 1/22/2004<br>carol : 2/21/2003<br>mgross : 1/21/2000<br>terry : 1/19/2000<br>carol : 11/18/1998<br>carol : 2/27/1995<br>mimadm : 12/2/1994<br>carol : 7/9/1993<br>supermim : 3/16/1992<br>carol : 2/28/1992<br>carol : 4/23/1991
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<strong>#</strong> 160500
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MYOPATHY, DISTAL, 1; MPD1
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MYOPATHY, LATE DISTAL HEREDITARY<br />
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LAING DISTAL MYOPATHY<br />
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MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT
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<strong>SNOMEDCT:</strong> 764859001;
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<strong>ORPHA:</strong> 59135;
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<strong>DO:</strong> 0070197;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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14q11.2
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Laing distal myopathy
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<span class="mim-font">
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160500
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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MYH7
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160760
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because distal myopathy-1 (MPD1), also known as Laing distal myopathy, is caused by heterozygous mutation in the MYH7 gene (160760), which encodes the myosin heavy chain of type 1 fibers of skeletal muscle and cardiac ventricles, on chromosome 14q11.</p><p>The MYH7 gene is mutated in both hypertrophic (see 192600) and dilated (see 115200) cardiomyopathy as well as in myosin storage myopathy (608358).</p>
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<strong>Description</strong>
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<p>Distal myopathy-1 (MPD1) is an autosomal dominant myopathy in which selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal muscle groups, such as the hip abductors and rotators, the shoulder abductors, and in some patients the sternocleidomastoids. Age of onset, at 4 to 25 years, is earlier than in other autosomal dominant distal myopathies (summary by Meredith et al., 2004). </p>
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<strong>Clinical Features</strong>
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<p>Laing et al. (1995) described a family with an autosomal dominant distal myopathy closely resembling that described in the original report of Gowers (1902). </p><p>Scoppetta et al. (1995) and Voit et al. (2001) reported 2 families with autosomal dominant distal myopathy with clinical features similar to those reported by Laing et al. (1995). Characteristics common to both families included onset in the second or third year of life, selective wasting and weakness of the anterior tibial and extensor digitorum longus muscles, a slowly progressive course, and, at later stages, involvement of hand extensors, neck flexor, and abdominal muscles. Some patients developed tremor. Zimprich et al. (2000) described an Austrian family with a similar phenotype. </p><p>In a family with 9 affected members spanning 3 generations, Mastaglia et al. (2002) described selective weakness of the ankle dorsiflexors and toe extensors, in particular the extensor hallucis longus. Ankle plantar flexors were normal, even in the most advanced cases. There was also weakness and atrophy of the anterior compartment muscles. Most cases had selective weakness of the long finger extensor muscles. None of the affected individuals had cardiomyopathy. Age at onset varied from 4 to 5 years to the early twenties. Muscle MRI showed atrophy of affected muscles, EMG gave a myopathic pattern, and muscle biopsy of 2 affected patients showed myopathic changes without rimmed vacuoles. </p><p>Hedera et al. (2003) reported a large Italian American kindred in which at least 11 members spanning 3 generations were affected with an autosomal dominant distal myopathy. Clinical features included weakness of foot and toe extensor muscles, and some patients had proximal weakness. No patient had distal weakness of the upper extremities or neck muscles, even in advanced stages of the disease. The average age at symptom onset was 20 years. Two affected patients had signs of idiopathic dilated cardiomyopathy. Hedera et al. (2003) noted that their family differed from the family reported by Laing et al. (1995) by the absence of upper extremity weakness and neck muscle weakness. </p><p>Darin et al. (2007) reported a Tanzanian boy with distal myopathy and mild dilated cardiomyopathy. He began walking on the toes at age 11 months and had Achilles tenotomy at age 6 years. Examination at age 7 showed weakness of the great toe and ankle dorsiflexors, atrophy of the anterior tibial muscles, weakness of the hip flexors, and decreased reflexes. Echocardiography showed mild left atrial enlargement and prolonged isovolumetric relaxation time. Skeletal muscle biopsy showed hypotrophy of type 1 fibers and apparent absence of type 2B fibers. Serum creatine kinase was mildly elevated. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Muelas et al. (2010) identified the same mutation in the MYH7 gene (lys1729del; 160760.0044) in 29 clearly affected individuals from 4 unrelated families in the Safor region of Spain. There was great phenotypic variability. The age at onset ranged from congenital to 50 years, with a mean of 14 years. All patients presented with weakness of great toe/ankle dorsiflexors, and many had associated neck flexor (78%), finger extensor (78%), mild facial (70%), or proximal muscle (65%) weakness. There was atrophy of the anterior lower leg compartment muscles, which contrasted with calf hypertrophy. Some had more widespread proximal muscle involvement, resembling that seen in the allelic disorder myosin storage myopathy (608358). Variable findings included quadriceps atrophy, ankle retraction, pes cavus, scoliosis, claw toes, and high-arched palate. Five patients had cardiac abnormalities, including dilated cardiomyopathy, left ventricular relaxation impairment, and conduction abnormalities. The spectrum of disability ranged from asymptomatic to wheelchair-confined, but life expectancy was not affected. EMG showed myopathic as well as neurogenic features, and muscle biopsies yielded various findings, such as fiber type disproportion, core/minicore lesions, and mitochondrial abnormalities. Most patients had slow progression, but some were severely disabled, and many had myalgias. These findings expanded the phenotypic spectrum of Laing myopathy, but the wide spectrum associated with a single mutation was noteworthy. Muelas et al. (2010) also noted that the variable features could lead to misdiagnosis of neurogenic atrophy, congenital myopathies, or even mitochondrial myopathies. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The disorder in the family studied by Laing et al. (1995) showed linkage of the locus, symbolized MPD1, to chromosome 14. A multipoint analysis assuming 100% penetrance and using MYH7 (160760) and 5 other markers gave a lod score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a lod score of 2.8 at this marker. </p><p>Linkage analysis in a large family with autosomal dominant distal myopathy reported by Mastaglia et al. (2002) yielded a maximum 2-point lod score of 2.9 at marker D14S262, and further analysis refined the candidate locus to a 24-cM region between D14S283 and D14S49. </p><p>In a large family with autosomal dominant distal myopathy, Hedera et al. (2003) found linkage to chromosome 14q11-q13 (maximum 2-point lod score of 3.99 at marker D14S1459). Mutation analysis excluded the PABP2 gene (602279). </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of MPD1 in the families reported by Meredith et al. (2004) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 7 separate families with Laing distal myopathy, Meredith et al. (2004) sequenced the MYH7 gene, a positional candidate for the site of the causative mutation. They identified 5 heterozygous mutations in 6 families (see 160760.0029-160760.0030) and no mutations in the seventh family. The family reported by Hedera et al. (2003) had a deletion of lys1729 (160760.0044). </p><p>In a Tanzanian boy with Laing myopathy and mild cardiac involvement, Darin et al. (2007) identified a heterozygous mutation in the MYH7 gene (160760.0036). </p>
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>Meredith et al. (2004) identified a heterozygous mutation in the MYH7 gene (lys1729del; 160760.0044) in affected members of an Italian American family with Laing distal myopathy reported by Hedera et al. (2003). Muelas et al. (2010) identified the lys1729del mutation in 29 clearly affected individuals from 4 unrelated families in the Safor region of Spain. Muelas et al. (2012) demonstrated a common 41.2-kb short haplotype including the lys1729del mutation in both Spanish patients from the Safor region and in the Italian American family reported by Hedera et al. (2003), indicating a founder effect. However, microsatellite markers both up- and downstream of the mutation did not match, indicating multiple recombination events. The mutation was estimated to have been introduced into the Safor population about 375 to 420 years ago (15 generations ago). The region is located in the southeast of Valencia on the Mediterranean coast of Spain. Muelas et al. (2012) hypothesized that the families from Safor were descendants of the Genoese who had repopulated this Spanish region in the 17th century after the Muslims were expelled; in fact, many of the surnames of the Safor families with Laing myopathy had an Italian origin. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Gowers, W. R.
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<strong>A lecture on myopathy and a distal form.</strong>
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Hedera, P., Petty, E. M., Bui, M. R., Blaivas, M., Fink, J. K.
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<p class="mim-text-font">
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Laing, N. G., Laing, B. A., Meredith, C., Wilton, S. D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F. L., Kakulas, B. A.
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<strong>Autosomal dominant distal myopathy: linkage to chromosome 14.</strong>
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<p class="mim-text-font">
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Mastaglia, F. L., Phillips, B. A., Cala, L. A., Meredith, C., Egli, S., Akkari, P. A., Laing, N. G.
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<strong>Early onset chromosome 14-linked distal myopathy (Laing).</strong>
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[PubMed: 12062252]
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Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D. E., Durling, H. J., Duff, R. M., Beckman, K., de Visser, M., van der Graaff, M. M., Hedera, P., Fink, J. K., Petty, E. M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F. L., Laing, N. G.
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<strong>Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).</strong>
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Am. J. Hum. Genet. 75: 703-708, 2004.
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[PubMed: 15322983]
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Muelas, N., Hackman, P., Luque, H., Garces-Sanchez, M., Azorin, I., Suominen, T., Sevilla, T., Mayordomo, F., Gomez, L., Marti, P., Maria Millan, J., Udd, B., Vilchez, J. J.
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<strong>MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.</strong>
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Neurology 75: 732-741, 2010.
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[PubMed: 20733148]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181eee4d5]
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Muelas, N., Hackman, P., Luque, H., Suominen, T., Espinos, C., Garces-Sanchez, M., Sevilla, T., Azorin, I., Millan, J. M., Udd, B., Vilchez, J. J.
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<strong>Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.</strong>
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Clin. Genet. 81: 491-494, 2012.
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[PubMed: 21395566]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01667.x]
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Scoppetta, C., Casali, C., La Cesa, I., Sermoni, A., Mercuri, B., Pierelli, F., Vaccario, M. L.
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<strong>Infantile autosomal dominant distal myopathy.</strong>
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[PubMed: 7484058]
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Voit, T., Kutz, P., Leube, B., Neuen-Jacob, E., Schroder, J. M., Cavallotti, D., Vaccario, M. L., Schaper, J., Broich, P., Cohn, R., Baethmann, M., Gohlich-Ratmann, G., Scoppetta, C., Herrmann, R.
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<strong>Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.</strong>
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Neuromusc. Disord. 11: 11-19, 2001.
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[PubMed: 11166161]
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[Full Text: https://doi.org/10.1016/s0960-8966(00)00158-9]
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Zimprich, F., Djamshidian, A., Hainfellner, J. A., Budka, H., Zeitlhofer, J.
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<strong>An autosomal dominant early adult-onset distal muscular dystrophy.</strong>
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Muscle Nerve 23: 1876-1879, 2000.
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[PubMed: 11102913]
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[Full Text: https://doi.org/10.1002/1097-4598(200012)23:12<1876::aid-mus13>3.0.co;2-a]
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Cassandra L. Kniffin - updated : 5/3/2012<br>Cassandra L. Kniffin - updated : 1/7/2008<br>Victor A. McKusick - updated : 9/9/2004<br>Cassandra L. Kniffin - updated : 1/22/2004<br>Victor A. McKusick - updated : 1/19/2000
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