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Entry
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- #613319 - MIYOSHI MUSCULAR DYSTROPHY 3; MMD3
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- OMIM
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<p>
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<span class="h4">#613319</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/613319"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS254130"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></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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<a href="#pathogenesis">Pathogenesis</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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<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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=MIYOSHI MUSCULAR DYSTROPHY" 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=22748&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/NBK114459/" 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/8905" 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/miyoshi-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=613319[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=399096" 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 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 class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070201" 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/613319" 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/OMIA002242/" 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:0070201" 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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<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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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 783166000<br />
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<strong>ORPHA:</strong> 399096<br />
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<strong>DO:</strong> 0070201<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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613319
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MIYOSHI MUSCULAR DYSTROPHY 3; MMD3
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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MIYOSHI MYOPATHY 3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/243?start=-3&limit=10&highlight=243">
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11p14.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Miyoshi muscular dystrophy 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613319"> 613319 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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ANO5
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608662"> 608662 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/613319" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS254130" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/613319" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613319" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </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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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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> MUSCLE, SOFT TISSUES </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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- Distal muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span><br /> -
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Inability to stand on tiptoes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150479</a>]</span><br /> -
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Calf muscle discomfort <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150480</a>]</span><br /> -
|
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Calf muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309249007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309249007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0586738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0586738</a>]</span><br /> -
|
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Calf hypertrophy (early in the disease) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150481</a>]</span> <span class="mim-feature-ids hidden">[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 /> -
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Calf atrophy (later onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150482</a>]</span><br /> -
|
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Hypertrophy of the extensor digitorum brevis muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150483</a>]</span><br /> -
|
|
MRI shows fatty infiltration of affected muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864710</a>]</span><br /> -
|
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Difficulty running <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282479002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282479002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0560346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0560346</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009046</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009046</a>]</span><br /> -
|
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Difficulty climbing stairs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282195009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282195009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003551</a>]</span><br /> -
|
|
Difficulty rising from chair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150484</a>]</span><br /> -
|
|
Proximal lower limb muscle weakness, upper and lower (later onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150485</a>]</span><br /> -
|
|
Quadriceps atrophy (later onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150486</a>]</span><br /> -
|
|
Muscle weakness and atrophy may be asymmetric <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150487</a>]</span><br /> -
|
|
Disruption of the sarcolemmal membrane seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552741</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">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</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">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
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<span class="mim-font">
|
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|
|
- Onset age 20 to 51 years<br /> -
|
|
Independent ambulation is maintained<br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase<br /> -
|
|
Limb-girdle muscular dystrophy type 2L (LGMD2L, <a href="/entry/611307">611307</a>) is an allelic disorder<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">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
|
<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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|
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- Caused by mutation in the anoctamin 5 gene (ANO5, <a href="/entry/608662#0004">608662.0004</a>)<br />
|
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|
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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>
|
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</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">
|
|
<h5>
|
|
Miyoshi muscular dystrophy
|
|
- <a href="/phenotypicSeries/PS254130">PS254130</a>
|
|
- 3 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">
|
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<thead>
|
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<tr>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
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</th>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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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">
|
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|
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<a href="/geneMap/2/351?start=-3&limit=10&highlight=351"> 2p13.2 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/254130"> Miyoshi muscular dystrophy 1 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/254130"> 254130 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/603009"> DYSF </a>
|
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</span>
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</td>
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<td>
|
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<p>A number sign (#) is used with this entry because Miyoshi muscular dystrophy-3 (MMD3) is caused by homozygous or compound heterozygous mutation in the ANO5 gene (<a href="/entry/608662">608662</a>) on chromosome 11p14.</p><p>Limb-girdle muscular dystrophy-2L (LGMD2L; <a href="/entry/611307">611307</a>) is also caused by mutation in the ANO5 gene.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Miyoshi muscular dystrophy, see MMD1 (<a href="/entry/254130">254130</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A. <strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong> Neuromusc. Disord. 8: 317-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673985</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00020-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9673985">Linssen et al. (1998)</a> reported a Dutch family with Miyoshi myopathy not caused by dysferlin mutations (DYSF; <a href="/entry/603009">603009</a>) and not linked to the MMD2 locus (<a href="/entry/613318">613318</a>) on chromosome 10. Age at onset ranged from 39 to 51 years, and the presenting symptom was inability to stand on tiptoe due to asymmetric distal muscle weakness of the lower limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9673985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R. <strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong> Traffic 8: 77-88, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132147</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2006.00505.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17132147">Jaiswal et al. (2007)</a> reported 2 Finnish brothers with Miyoshi myopathy. The 41-year-old proband reported discomfort of the calf muscles since age 20 years. In his late twenties, he had difficulty running, and was unable to run after age 30. He remained ambulatory with a waddling gait. Physical examination showed mild weakness of the calf muscles, hypertrophy of the extensor digitorum brevis muscles, weakness of the proximal lower limb muscles, and increased serum creatine kinase. MRI showed fatty infiltration of affected muscles. His 46-year-old brother was clinically asymptomatic, but he had increased serum creatine kinase and showed fatty infiltration of the distal lower limb muscles on MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17132147" 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>Among 16 male patients, most of Finnish origin, with recessive ANO5 mutations, <a href="#4" class="mim-tip-reference" title="Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B. <strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong> Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824c4682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22402862">Penttila et al. (2012)</a> found that only 3 had distal lower limb weakness consistent with Miyoshi myopathy. One patient had proximal and distal lower limb weakness. The rest of the patients had proximal muscle weakness more consistent with the LGMD2L phenotype. There were no particular genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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="#4" class="mim-tip-reference" title="Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B. <strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong> Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824c4682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22402862">Penttila et al. (2012)</a> observed that female patients with ANO5 mutations had consistently milder phenotypes than males with similar mutations. In a cohort of 25 mutation carriers, including 9 females and 16 males, most of Finnish origin, none of the females had clinically detectable muscle weakness despite increased serum creatine kinase and myopathic findings in muscle biopsy samples. They also had less severe fatty degenerative changes on MRI and less severely increased serum creatine kinase compared to males. Females presented with myalgia, exercise intolerance, calf hypertrophy, or isolated hyperCKemia. These gender differences were evident even among sibs in the same family, and there were no particular genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomewide linkage analysis of 2 families with Miyoshi myopathy reported by <a href="#3" class="mim-tip-reference" title="Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A. <strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong> Neuromusc. Disord. 8: 317-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673985</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00020-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9673985">Linssen et al. (1998)</a> and <a href="#2" class="mim-tip-reference" title="Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R. <strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong> Traffic 8: 77-88, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132147</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2006.00505.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17132147">Jaiswal et al. (2007)</a>, <a href="#1" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> found linkage to a new locus, termed MMD3, on chromosome 11p14.3-cen between <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs722490;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs722490</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs509244;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs509244</a>, with a cumulative lod score greater than 2.5. This locus overlapped with the LGMD2L candidate region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17132147+9673985+20096397" 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 MMD3 in the families reported by <a href="#1" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20096397" 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 a Dutch family with MMD3 (<a href="#3" class="mim-tip-reference" title="Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A. <strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong> Neuromusc. Disord. 8: 317-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673985</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00020-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9673985">Linssen et al., 1998</a>), <a href="#1" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> identified a homozygous mutation in the ANO5 gene (191dupA; <a href="/entry/608662#0004">608662.0004</a>). Two Finnish brothers with Miyoshi myopathy (<a href="#2" class="mim-tip-reference" title="Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R. <strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong> Traffic 8: 77-88, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132147</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2006.00505.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17132147">Jaiswal et al., 2007</a>) were found to be homozygous for another mutation in the ANO5 gene (R758C; <a href="/entry/608662#0006">608662.0006</a>). The 191dupA mutation was also observed in compound heterozygous state in a family with LGMD2L (<a href="/entry/611307">611307</a>), confirming that the 2 disorders are allelic. Electron microscopy of a patient's muscle biopsy showed disruption of the sarcolemmal membrane, and <a href="#1" class="mim-tip-reference" title="Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B. <strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong> Am. J. Hum. Genet. 86: 213-221, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20096397">Bolduc et al. (2010)</a> postulated a defect in membrane repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17132147+9673985+20096397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R. <strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong> Traffic 8: 77-88, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132147</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2006.00505.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17132147">Jaiswal et al. (2007)</a> found that fibroblasts derived from 2 Finnish brothers with Miyoshi muscular dystrophy-3 exhibited membrane repair defects in vitro. However, the cells showed normal calcium-triggered exocytosis of lysosomes, which is believed to be a mechanism for membrane wound repair, indicating that another mechanism must be involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17132147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B.
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<strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong>
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Am. J. Hum. Genet. 86: 213-221, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20096397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20096397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20096397[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=20096397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.12.013" target="_blank">Full Text</a>]
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Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R.
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<strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong>
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Traffic 8: 77-88, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17132147" 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.1600-0854.2006.00505.x" target="_blank">Full Text</a>]
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<a id="Linssen1998" class="mim-anchor"></a>
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Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A.
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<strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong>
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Neuromusc. Disord. 8: 317-320, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9673985" 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(98)00020-0" target="_blank">Full Text</a>]
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Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B.
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<strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong>
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Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22402862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22402862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22402862" 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.0b013e31824c4682" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 10/23/2012
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Cassandra L. Kniffin : 3/23/2010
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carol : 03/27/2024
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carol : 10/01/2013<br>carol : 11/6/2012<br>ckniffin : 11/6/2012<br>carol : 11/5/2012<br>ckniffin : 10/23/2012<br>carol : 3/25/2010<br>ckniffin : 3/24/2010
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<strong>#</strong> 613319
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MIYOSHI MUSCULAR DYSTROPHY 3; MMD3
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MIYOSHI MYOPATHY 3
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<strong>SNOMEDCT:</strong> 783166000;
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<strong>ORPHA:</strong> 399096;
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<strong>DO:</strong> 0070201;
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11p14.3
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Miyoshi muscular dystrophy 3
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613319
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Autosomal recessive
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3
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ANO5
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608662
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<p>A number sign (#) is used with this entry because Miyoshi muscular dystrophy-3 (MMD3) is caused by homozygous or compound heterozygous mutation in the ANO5 gene (608662) on chromosome 11p14.</p><p>Limb-girdle muscular dystrophy-2L (LGMD2L; 611307) is also caused by mutation in the ANO5 gene.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Miyoshi muscular dystrophy, see MMD1 (254130).</p>
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<strong>Clinical Features</strong>
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<p>Linssen et al. (1998) reported a Dutch family with Miyoshi myopathy not caused by dysferlin mutations (DYSF; 603009) and not linked to the MMD2 locus (613318) on chromosome 10. Age at onset ranged from 39 to 51 years, and the presenting symptom was inability to stand on tiptoe due to asymmetric distal muscle weakness of the lower limbs. </p><p>Jaiswal et al. (2007) reported 2 Finnish brothers with Miyoshi myopathy. The 41-year-old proband reported discomfort of the calf muscles since age 20 years. In his late twenties, he had difficulty running, and was unable to run after age 30. He remained ambulatory with a waddling gait. Physical examination showed mild weakness of the calf muscles, hypertrophy of the extensor digitorum brevis muscles, weakness of the proximal lower limb muscles, and increased serum creatine kinase. MRI showed fatty infiltration of affected muscles. His 46-year-old brother was clinically asymptomatic, but he had increased serum creatine kinase and showed fatty infiltration of the distal lower limb muscles on MRI. </p><p>Among 16 male patients, most of Finnish origin, with recessive ANO5 mutations, Penttila et al. (2012) found that only 3 had distal lower limb weakness consistent with Miyoshi myopathy. One patient had proximal and distal lower limb weakness. The rest of the patients had proximal muscle weakness more consistent with the LGMD2L phenotype. There were no particular genotype/phenotype correlations. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Penttila et al. (2012) observed that female patients with ANO5 mutations had consistently milder phenotypes than males with similar mutations. In a cohort of 25 mutation carriers, including 9 females and 16 males, most of Finnish origin, none of the females had clinically detectable muscle weakness despite increased serum creatine kinase and myopathic findings in muscle biopsy samples. They also had less severe fatty degenerative changes on MRI and less severely increased serum creatine kinase compared to males. Females presented with myalgia, exercise intolerance, calf hypertrophy, or isolated hyperCKemia. These gender differences were evident even among sibs in the same family, and there were no particular genotype/phenotype correlations. </p>
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<strong>Mapping</strong>
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<p>By genomewide linkage analysis of 2 families with Miyoshi myopathy reported by Linssen et al. (1998) and Jaiswal et al. (2007), Bolduc et al. (2010) found linkage to a new locus, termed MMD3, on chromosome 11p14.3-cen between rs722490 and rs509244, with a cumulative lod score greater than 2.5. This locus overlapped with the LGMD2L candidate region. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MMD3 in the families reported by Bolduc et al. (2010) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a Dutch family with MMD3 (Linssen et al., 1998), Bolduc et al. (2010) identified a homozygous mutation in the ANO5 gene (191dupA; 608662.0004). Two Finnish brothers with Miyoshi myopathy (Jaiswal et al., 2007) were found to be homozygous for another mutation in the ANO5 gene (R758C; 608662.0006). The 191dupA mutation was also observed in compound heterozygous state in a family with LGMD2L (611307), confirming that the 2 disorders are allelic. Electron microscopy of a patient's muscle biopsy showed disruption of the sarcolemmal membrane, and Bolduc et al. (2010) postulated a defect in membrane repair. </p>
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<p>Jaiswal et al. (2007) found that fibroblasts derived from 2 Finnish brothers with Miyoshi muscular dystrophy-3 exhibited membrane repair defects in vitro. However, the cells showed normal calcium-triggered exocytosis of lysosomes, which is believed to be a mechanism for membrane wound repair, indicating that another mechanism must be involved. </p>
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<strong>REFERENCES</strong>
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Bolduc, V., Marlow, G., Boycott, K. M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W. H. J. P., Mahjneh, I., de Visser, M., Bashir, R., Brais, B.
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<strong>Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.</strong>
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Am. J. Hum. Genet. 86: 213-221, 2010.
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[PubMed: 20096397]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.12.013]
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Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R.
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<strong>Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.</strong>
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Traffic 8: 77-88, 2007.
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[PubMed: 17132147]
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[Full Text: https://doi.org/10.1111/j.1600-0854.2006.00505.x]
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Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A.
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<strong>Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.</strong>
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Neuromusc. Disord. 8: 317-320, 1998.
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[PubMed: 9673985]
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[Full Text: https://doi.org/10.1016/s0960-8966(98)00020-0]
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Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B.
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<strong>Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.</strong>
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Neurology 78: 897-903, 2012. Note: Erratum: Neurology 80: 226 only, 2013.
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[PubMed: 22402862]
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[Full Text: https://doi.org/10.1212/WNL.0b013e31824c4682]
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Cassandra L. Kniffin - updated : 10/23/2012
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Cassandra L. Kniffin : 3/23/2010
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carol : 03/27/2024<br>carol : 10/01/2013<br>carol : 11/6/2012<br>ckniffin : 11/6/2012<br>carol : 11/5/2012<br>ckniffin : 10/23/2012<br>carol : 3/25/2010<br>ckniffin : 3/24/2010
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