4025 lines
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4025 lines
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Entry
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- #608807 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10
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- OMIM
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<p>
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<span class="h4">#608807</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/608807"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS253600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular 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 style="display: table-cell;">External Links</div>
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</h4>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE" 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=16999&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.diseaseinfosearch.org/x/8928" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608807[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=140922" 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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</a>
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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:0110283" 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/608807" 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://wormbase.org/resources/disease/DOID:0110283" 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>
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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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<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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<strong>SNOMEDCT:</strong> 725042001<br />
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<strong>ORPHA:</strong> 140922<br />
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<strong>DO:</strong> 0110283<br />
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">ICD+</a>
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<div>
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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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608807
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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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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
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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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<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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</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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<a href="/geneMap/2/823?start=-3&limit=10&highlight=823">
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2q31.2
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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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Muscular dystrophy, limb-girdle, autosomal recessive 10
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/608807"> 608807 </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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</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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<td>
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<span class="mim-font">
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TTN
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/188840"> 188840 </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 class="btn-group ">
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<a href="/clinicalSynopsis/608807" 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/PS253600" 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/608807" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608807" 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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<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> CARDIOVASCULAR </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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<div>
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<span class="h5 mim-font">
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<em> Heart </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- No cardiomyopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837350</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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<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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- Proximal muscle weakness <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221629</a> 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> <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 /> -
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Distal muscle weakness, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837343</a>]</span> <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">[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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Upper and lower limbs affected <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4015353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4015353</a>]</span><br /> -
|
|
Muscle atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br /> -
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No facial muscle involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837346</a>]</span><br /> -
|
|
Myopathic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
|
|
Dystrophic changes seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279200</a>]</span><br /> -
|
|
Fatty infiltration of affected muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837347</a>]</span><br /> -
|
|
Secondary decrease of calpain-3 (CAPN3, <a href="/entry/114240">114240</a>) protein expression in muscle<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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|
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<div>
|
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<span class="mim-font">
|
|
|
|
- Normal or increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837349</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>
|
|
<span class="mim-font">
|
|
|
|
- Childhood or young adult-onset<br /> -
|
|
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><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 /> -
|
|
Loss of ambulation between third and sixth decade (in most patients)<br />
|
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|
|
</span>
|
|
</div>
|
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|
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the titin gene (TTN, <a href="/entry/188840#0004">188840.0004</a>)<br />
|
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|
|
</span>
|
|
</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>
|
|
</div>
|
|
</div>
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Muscular dystrophy, limb-girdle, autosomal recessive
|
|
- <a href="/phenotypicSeries/PS253600">PS253600</a>
|
|
- 31 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>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<a href="/geneMap/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613157"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<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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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613157"> 613157 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606822"> POMGNT1 </a>
|
|
</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/606822"> 606822 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1466?start=-3&limit=10&highlight=1466"> 1q25.2 </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/617072"> ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures </a>
|
|
</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/617072"> 617072 </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/614512"> TOR1AIP1 </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/614512"> 614512 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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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>
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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/253601"> Muscular dystrophy, limb-girdle, autosomal recessive 2 </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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|
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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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|
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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/253601"> 253601 </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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<span class="mim-font">
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<a href="/entry/603009"> 603009 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/2/625?start=-3&limit=10&highlight=625"> 2q14.3 </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/616827"> ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<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/616827"> 616827 </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/607908"> LIMS2 </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/607908"> 607908 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
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</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/608807"> Muscular dystrophy, limb-girdle, autosomal recessive 10 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/608807"> 608807 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> TTN </a>
|
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</span>
|
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</td>
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|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> 188840 </a>
|
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/214?start=-3&limit=10&highlight=214"> 3p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618135"> Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/618135"> 618135 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614828"> POMGNT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614828"> 614828 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/313?start=-3&limit=10&highlight=313"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613818"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/613818"> 613818 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128239"> DAG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128239"> 128239 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/319?start=-3&limit=10&highlight=319"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615352"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/615352"> 615352 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615320"> GMPPB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615320"> 615320 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/572?start=-3&limit=10&highlight=572"> 3q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617232"> Muscular dystrophy, limb-girdle, autosomal recessive 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/617232"> 617232 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615618"> POGLUT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615618"> 615618 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/214?start=-3&limit=10&highlight=214"> 4q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604286"> Muscular dystrophy, limb-girdle, autosomal recessive 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/604286"> 604286 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600900"> SGCB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600900"> 600900 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/705?start=-3&limit=10&highlight=705"> 4q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615356"> Muscular dystrophy, limb-girdle, autosomal recessive 18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/615356"> 615356 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614138"> TRAPPC11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614138"> 614138 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/259?start=-3&limit=10&highlight=259"> 5q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620375"> Muscular dystrophy, limb-girdle, autosomal recessive 28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/620375"> 620375 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142910"> HMGCR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142910"> 142910 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601287"> Muscular dystrophy, limb-girdle, autosomal recessive 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/601287"> 601287 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601411"> SGCD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601411"> 601411 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/743?start=-3&limit=10&highlight=743"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616812"> Muscular dystrophy, limb-girdle, autosomal recessive 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/616812"> 616812 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604577"> BVES </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604577"> 604577 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/744?start=-3&limit=10&highlight=744"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618848"> Muscular dystrophy, limb-girdle, autosomal recessive 26 </a>
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</span>
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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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<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/618848"> 618848 </a>
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<span class="mim-font">
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<a href="/entry/605824"> POPDC3 </a>
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<span class="mim-font">
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<a href="/entry/605824"> 605824 </a>
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<span class="mim-font">
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<a href="/geneMap/6/842?start=-3&limit=10&highlight=842"> 6q22.33 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/618138"> Muscular dystrophy, limb-girdle, autosomal recessive 23 </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>
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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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<span class="mim-font">
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<a href="/entry/618138"> 618138 </a>
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<span class="mim-font">
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<a href="/entry/156225"> LAMA2 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/156225"> 156225 </a>
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<span class="mim-font">
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<a href="/geneMap/7/83?start=-3&limit=10&highlight=83"> 7p21.2 </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/616052"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 </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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<span class="mim-font">
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<a href="/entry/616052"> 616052 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/614631"> CRPPA </a>
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</span>
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<span class="mim-font">
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<a href="/entry/614631"> 614631 </a>
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<td>
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<span class="mim-font">
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<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </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/613723"> Muscular dystrophy, limb-girdle, autosomal recessive 17 </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/613723"> 613723 </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/601282"> PLEC1 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/601282"> 601282 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </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/611588"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 </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/611588"> 611588 </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/607440"> FKTN </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/607440"> 607440 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/453?start=-3&limit=10&highlight=453"> 9q33.1 </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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<a href="/entry/254110"> Muscular dystrophy, limb-girdle, autosomal recessive 8 </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/254110"> 254110 </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/602290"> TRIM32 </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/602290"> 602290 </a>
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</span>
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</td>
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</tr>
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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/9/589?start=-3&limit=10&highlight=589"> 9q34.13 </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/609308"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 </a>
|
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609308"> 609308 </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/607423"> POMT1 </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/607423"> 607423 </a>
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</span>
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</td>
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</tr>
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<tr>
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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"> 11p14.3 </a>
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</span>
|
|
</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611307"> Muscular dystrophy, limb-girdle, autosomal recessive 12 </a>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<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/611307"> 611307 </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/608662"> ANO5 </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/608662"> 608662 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
|
<a href="/geneMap/13/30?start=-3&limit=10&highlight=30"> 13q12.12 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
|
|
<a href="/entry/253700"> Muscular dystrophy, limb-girdle, autosomal recessive 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
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|
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
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<a href="/entry/253700"> 253700 </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/608896"> SGCG </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/608896"> 608896 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/414?start=-3&limit=10&highlight=414"> 14q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613158"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
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<span class="mim-font">
|
|
<a href="/entry/613158"> 613158 </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/607439"> POMT2 </a>
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|
</span>
|
|
</td>
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|
<td>
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<span class="mim-font">
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|
<a href="/entry/607439"> 607439 </a>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/600?start=-3&limit=10&highlight=600"> 14q32.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
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<a href="/entry/619566"> Muscular dystrophy, limb-girdle, autosomal recessive 27 </a>
|
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</span>
|
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</td>
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|
<td>
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</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>
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|
<td>
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|
<span class="mim-font">
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|
<a href="/entry/619566"> 619566 </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/602570"> JAG2 </a>
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</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
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|
<a href="/entry/602570"> 602570 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
|
|
<a href="/geneMap/15/133?start=-3&limit=10&highlight=133"> 15q15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
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|
<a href="/entry/253600"> Muscular dystrophy, limb-girdle, autosomal recessive 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/253600"> 253600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
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<a href="/entry/114240"> CAPN3 </a>
|
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</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
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<a href="/entry/114240"> 114240 </a>
|
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</span>
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</td>
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/400?start=-3&limit=10&highlight=400"> 15q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/620793"> Muscular dystrophy, limb-girdle, autosomal recessive 29 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/620793"> 620793 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/607902"> SNUPN </a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/607902"> 607902 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<a href="/entry/601954"> Muscular dystrophy, limb-girdle, autosomal recessive 7 </a>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-10 (LGMDR10) is caused by homozygous or compound heterozygous mutation in the titin gene (TTN; <a href="/entry/188840">188840</a>) on chromosome 2q31.</p><p>Heterozygous mutation in the titin gene causes tardive tibial muscular dystrophy (TMD; <a href="/entry/600334">600334</a>).</p><p>For a general description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (<a href="/entry/253600">253600</a>).</p>
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<p>According to the report of the 105th ENMC workshop, the phenotype of the homozygous TTN gene mutation is termed 'LGMD2J' (<a href="#1" class="mim-tip-reference" title="Bushby, K. M., Beckmann, J. S. <strong>The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002.</strong> Neuromusc. Disord. 13: 80-90, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12467737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12467737</a>] [<a href="https://doi.org/10.1016/s0960-8966(02)00183-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12467737">Bushby and Beckmann, 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12467737" 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>At the 229th ENMC international workshop, <a href="#7" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. <strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong> Neuromusc. Disord. 28: 702-710, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>] [<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30055862">Straub et al. (2018)</a> reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2J was renamed LGMDR10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><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>Udd et al. (<a href="#8" class="mim-tip-reference" title="Udd, B., Kaarianen, H., Somer, H. <strong>Muscular dystrophy with separate clinical phenotypes in a large family.</strong> Muscle Nerve 14: 1050-1058, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1745277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1745277</a>] [<a href="https://doi.org/10.1002/mus.880141103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1745277">1991</a>, <a href="#9" class="mim-tip-reference" title="Udd, B., Rapola, J., Nokelainen, P., Arikawa, E., Somer, H. <strong>Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy.</strong> J. Neurol. Sci. 113: 214-221, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487757</a>] [<a href="https://doi.org/10.1016/0022-510x(92)90249-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1487757">1992</a>) reported a large consanguineous Finnish pedigree in which 12 members had mild late-onset distal tibial myopathy (see TMD) inherited in an autosomal dominant pattern and 8 members had a severe limb-girdle muscular dystrophy inherited in an autosomal recessive pattern. Both groups had nonspecific myopathic changes on muscle biopsy and progressive fatty infiltration of involved muscles. Onset of the severe LGMD phenotype was in the first to third decades and involved weakness of all proximal muscles. Severe disability with loss of ambulation occurred within 20 years (third to sixth decades). There was no facial muscle involvement or cardiomyopathy. Some patients later developed distal muscle involvement. Segregation analysis showed that the corrected proportion of affected persons with the severe proximal type was 0.246 and the proportion of affected persons with the distal myopathy was 0.58. The findings were compatible with the hypothesis that the severe LGMD phenotype was the homozygous manifestation of a dominant gene that in the heterozygous state caused the milder distal myopathy (<a href="#10" class="mim-tip-reference" title="Udd, B. <strong>Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?</strong> J. Med. Genet. 29: 383-389, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619633</a>] [<a href="https://doi.org/10.1136/jmg.29.6.383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1619633">Udd, 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1487757+1745277+1619633" 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 muscle biopsies from a patient with limb-girdle muscular dystrophy who was homozygous for a TMD haplotype, <a href="#6" class="mim-tip-reference" title="Haravuori, H., Vihola, A., Straub, V., Auranen, M., Richard, I., Marchand, S., Voit, T., Labeit, S., Somer, H., Peltonen, L., Beckmann, J. S., Udd, B. <strong>Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.</strong> Neurology 56: 869-877, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11294923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11294923</a>] [<a href="https://doi.org/10.1212/wnl.56.7.869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11294923">Haravuori et al. (2001)</a> found almost complete loss of calpain-3 (CAPN3; <a href="/entry/114240">114240</a>), a ligand of titin. The authors concluded that the loss of calpain-3 is a secondary downstream effect of deficiency of the TMD gene protein and results in phenotypic overlap with LGMDR1, which is caused by mutation in the calpain-3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11294923" 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="Dabby, R., Sadeh, M., Hilton-Jones, D., Plotz, P., Hackman, P., Vihola, A., Udd, B., Leshinsky-Silver, E. <strong>Adult onset limb-girdle muscular dystrophy--a recessive titinopathy masquerading as myositis.</strong> J. Neurol. Sci. 351: 120-123, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25772186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25772186</a>] [<a href="https://doi.org/10.1016/j.jns.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25772186">Dabby et al. (2015)</a> reported a 29-year-old man of Romanian and Hungarian descent who presented with slowly progressive proximal muscle weakness of the lower limbs resulting in difficulty climbing stairs and getting up from a seated position. He also had mild weakness of the shoulder girdle muscles. Laboratory studies showed increased serum creatine kinase, a myopathic and irritative pattern on EMG, nonspecific myopathic changes on muscle biopsy, including variability in fiber size, necrotic and regenerating fibers, and a lymphocytic infiltrate, and fatty replacement of muscles of the lower limb on MRI. He was treated with various immunomodulatory medications with no improvement. Muscle biopsy showed some reduction of C-terminal titin compared to controls, but it was not as severe as had been reported in other patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25772186" 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="#11" class="mim-tip-reference" title="Zheng, W., Chen, H., Deng, X., Yuan, L., Yang, Y., Song, Z., Yang, Z., Wu, Y., Deng, H. <strong>Identification of a novel mutation in the titin gene in a Chinese family with limb-girdle muscular dystrophy 2J.</strong> Molec. Neurobiol. 53: 5097-5102, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26392295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26392295</a>] [<a href="https://doi.org/10.1007/s12035-015-9439-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26392295">Zheng et al. (2016)</a> reported 3 adult sibs from a consanguineous Han Chinese family with LGMDR10. The patients presented between 13 and 16 years of age with difficulty running and climbing, frequent falls, and Gowers sign. They developed proximal muscle weakness and atrophy affecting the lower and upper limbs. The disorder was progressive, and they developed elbow and ankle joint contractures; none was able to walk or raise their arms above their shoulders after their thirties. One patient also had lordosis. Skeletal muscle biopsy of 1 patient showed variation in fiber diameter, cell necrosis, fibrosis, and some regenerating fibers. Serum creatine kinase was increased in 2 patients. There was no cardiac involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26392295" 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 LGMDR10 in the family reported by <a href="#2" class="mim-tip-reference" title="Dabby, R., Sadeh, M., Hilton-Jones, D., Plotz, P., Hackman, P., Vihola, A., Udd, B., Leshinsky-Silver, E. <strong>Adult onset limb-girdle muscular dystrophy--a recessive titinopathy masquerading as myositis.</strong> J. Neurol. Sci. 351: 120-123, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25772186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25772186</a>] [<a href="https://doi.org/10.1016/j.jns.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25772186">Dabby et al. (2015)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25772186" 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 scan of the large Finnish family with LGMD and TMD reported by <a href="#9" class="mim-tip-reference" title="Udd, B., Rapola, J., Nokelainen, P., Arikawa, E., Somer, H. <strong>Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy.</strong> J. Neurol. Sci. 113: 214-221, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487757</a>] [<a href="https://doi.org/10.1016/0022-510x(92)90249-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1487757">Udd et al. (1992)</a>, Haravuori et al. (<a href="#5" class="mim-tip-reference" title="Haravuori, H., Makela-Bengs, P., Udd, B., Pulkkinen, L., Partanen, J., Somer, H., Peltonen, L. <strong>Assignment of the tibial muscular dystrophy (TMD) locus on chromosome 2q31. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997."None>1997</a>, <a href="#4" class="mim-tip-reference" title="Haravuori, H., Makela-Bengs, P., Udd, B., Partanen, J., Pulkkinen, L., Somer, H., Peltonen, L. <strong>Assignment of the tibial muscular dystrophy locus to chromosome 2q31.</strong> Am. J. Hum. Genet. 62: 620-626, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497249</a>] [<a href="https://doi.org/10.1086/301752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497249">1998</a>) found a region of interest on 2q. Further analyses with additional family members and additional families with TMD, yielded a maximum multipoint lod score of 12.4 with marker D2S324. Haplotype analysis revealed the same core haplotype in all analyzed families, providing evidence for an ancestral mutation, further restricting the critical chromosomal region to about 1 cM, and mapping the disease locus to chromosome 2q31. Three patients with the more severe LGMD phenotype were homozygous for the haplotype, whereas those with the milder TMD phenotype were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1487757+9497249" 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 patients with LGMD2J from the large Finnish family reported by <a href="#9" class="mim-tip-reference" title="Udd, B., Rapola, J., Nokelainen, P., Arikawa, E., Somer, H. <strong>Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy.</strong> J. Neurol. Sci. 113: 214-221, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487757</a>] [<a href="https://doi.org/10.1016/0022-510x(92)90249-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1487757">Udd et al. (1992)</a>, <a href="#3" class="mim-tip-reference" title="Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., de Seze, J., Labeit, S., Witt, C., Peltonen, L., Richard, I., Udd, B. <strong>Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.</strong> Am. J. Hum. Genet. 71: 492-500, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145747[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/10.1086/342380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12145747">Hackman et al. (2002)</a> identified homozygosity for an 11-bp deletion/insertion in the last exon (exon 363) of the TTN gene (<a href="/entry/188840#0004">188840.0004</a>). Family members affected with the milder adult-onset TMD phenotype were heterozygous for the TTN deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12145747+1487757" 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 29-year-old man of Romanian and Hungarian origin with a relatively mild form of LGMDR10, <a href="#2" class="mim-tip-reference" title="Dabby, R., Sadeh, M., Hilton-Jones, D., Plotz, P., Hackman, P., Vihola, A., Udd, B., Leshinsky-Silver, E. <strong>Adult onset limb-girdle muscular dystrophy--a recessive titinopathy masquerading as myositis.</strong> J. Neurol. Sci. 351: 120-123, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25772186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25772186</a>] [<a href="https://doi.org/10.1016/j.jns.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25772186">Dabby et al. (2015)</a> identified compound heterozygous missense mutations at conserved residues in the TTN gene: K26320T (<a href="/entry/188840#0017">188840.0017</a>) and A6135G (<a href="/entry/188840#0018">188840.0018</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants were not performed, but patient skeletal muscle biopsy showed a reduction in C-terminal titin compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25772186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 sibs from a consanguineous Han Chinese family with LGMDR10, <a href="#11" class="mim-tip-reference" title="Zheng, W., Chen, H., Deng, X., Yuan, L., Yang, Y., Song, Z., Yang, Z., Wu, Y., Deng, H. <strong>Identification of a novel mutation in the titin gene in a Chinese family with limb-girdle muscular dystrophy 2J.</strong> Molec. Neurobiol. 53: 5097-5102, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26392295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26392295</a>] [<a href="https://doi.org/10.1007/s12035-015-9439-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26392295">Zheng et al. (2016)</a> identified a homozygous missense mutation in the TTN gene (W35930R; <a href="/entry/188840#0019">188840.0019</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26392295" 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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Bushby, K. M., Beckmann, J. S.
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<strong>The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002.</strong>
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Neuromusc. Disord. 13: 80-90, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12467737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12467737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12467737" 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(02)00183-9" target="_blank">Full Text</a>]
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Dabby, R., Sadeh, M., Hilton-Jones, D., Plotz, P., Hackman, P., Vihola, A., Udd, B., Leshinsky-Silver, E.
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<strong>Adult onset limb-girdle muscular dystrophy--a recessive titinopathy masquerading as myositis.</strong>
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J. Neurol. Sci. 351: 120-123, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25772186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25772186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25772186" 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.jns.2015.03.001" target="_blank">Full Text</a>]
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Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., de Seze, J., Labeit, S., Witt, C., Peltonen, L., Richard, I., Udd, B.
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<strong>Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.</strong>
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Am. J. Hum. Genet. 71: 492-500, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145747[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=12145747" 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/10.1086/342380" target="_blank">Full Text</a>]
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<a id="Haravuori1998" class="mim-anchor"></a>
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Haravuori, H., Makela-Bengs, P., Udd, B., Partanen, J., Pulkkinen, L., Somer, H., Peltonen, L.
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<strong>Assignment of the tibial muscular dystrophy locus to chromosome 2q31.</strong>
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Am. J. Hum. Genet. 62: 620-626, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497249" 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/10.1086/301752" target="_blank">Full Text</a>]
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Haravuori, H., Makela-Bengs, P., Udd, B., Pulkkinen, L., Partanen, J., Somer, H., Peltonen, L.
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<strong>Assignment of the tibial muscular dystrophy (TMD) locus on chromosome 2q31. (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997.
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Haravuori, H., Vihola, A., Straub, V., Auranen, M., Richard, I., Marchand, S., Voit, T., Labeit, S., Somer, H., Peltonen, L., Beckmann, J. S., Udd, B.
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<strong>Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.</strong>
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Neurology 56: 869-877, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11294923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11294923</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11294923" 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.56.7.869" target="_blank">Full Text</a>]
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Straub, V., Murphy, A., Udd, B.
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<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
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Neuromusc. Disord. 28: 702-710, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank">Full Text</a>]
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Udd, B., Kaarianen, H., Somer, H.
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<strong>Muscular dystrophy with separate clinical phenotypes in a large family.</strong>
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Muscle Nerve 14: 1050-1058, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1745277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1745277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1745277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mus.880141103" target="_blank">Full Text</a>]
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Udd, B., Rapola, J., Nokelainen, P., Arikawa, E., Somer, H.
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<strong>Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy.</strong>
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J. Neurol. Sci. 113: 214-221, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1487757" 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/10.1016/0022-510x(92)90249-k" target="_blank">Full Text</a>]
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Udd, B.
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<strong>Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?</strong>
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J. Med. Genet. 29: 383-389, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1619633" 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/jmg.29.6.383" target="_blank">Full Text</a>]
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Zheng, W., Chen, H., Deng, X., Yuan, L., Yang, Y., Song, Z., Yang, Z., Wu, Y., Deng, H.
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<strong>Identification of a novel mutation in the titin gene in a Chinese family with limb-girdle muscular dystrophy 2J.</strong>
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Molec. Neurobiol. 53: 5097-5102, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26392295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26392295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26392295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s12035-015-9439-0" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 04/16/2019
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Cassandra L. Kniffin : 7/19/2004
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alopez : 09/26/2019
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alopez : 04/17/2019<br>ckniffin : 04/16/2019<br>carol : 09/25/2018<br>carol : 03/27/2017<br>carol : 06/20/2016<br>carol : 7/28/2004<br>ckniffin : 7/23/2004<br>ckniffin : 7/20/2004
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<strong>#</strong> 608807
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
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<strong>SNOMEDCT:</strong> 725042001;
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<strong>ORPHA:</strong> 140922;
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<strong>DO:</strong> 0110283;
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<strong>Phenotype-Gene Relationships</strong>
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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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2q31.2
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Muscular dystrophy, limb-girdle, autosomal recessive 10
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608807
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Autosomal recessive
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3
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TTN
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188840
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-10 (LGMDR10) is caused by homozygous or compound heterozygous mutation in the titin gene (TTN; 188840) on chromosome 2q31.</p><p>Heterozygous mutation in the titin gene causes tardive tibial muscular dystrophy (TMD; 600334).</p><p>For a general description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</p>
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<strong>Nomenclature</strong>
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<p>According to the report of the 105th ENMC workshop, the phenotype of the homozygous TTN gene mutation is termed 'LGMD2J' (Bushby and Beckmann, 2003). </p><p>At the 229th ENMC international workshop, Straub et al. (2018) reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2J was renamed LGMDR10. </p>
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<strong>Clinical Features</strong>
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<p>Udd et al. (1991, 1992) reported a large consanguineous Finnish pedigree in which 12 members had mild late-onset distal tibial myopathy (see TMD) inherited in an autosomal dominant pattern and 8 members had a severe limb-girdle muscular dystrophy inherited in an autosomal recessive pattern. Both groups had nonspecific myopathic changes on muscle biopsy and progressive fatty infiltration of involved muscles. Onset of the severe LGMD phenotype was in the first to third decades and involved weakness of all proximal muscles. Severe disability with loss of ambulation occurred within 20 years (third to sixth decades). There was no facial muscle involvement or cardiomyopathy. Some patients later developed distal muscle involvement. Segregation analysis showed that the corrected proportion of affected persons with the severe proximal type was 0.246 and the proportion of affected persons with the distal myopathy was 0.58. The findings were compatible with the hypothesis that the severe LGMD phenotype was the homozygous manifestation of a dominant gene that in the heterozygous state caused the milder distal myopathy (Udd, 1992). </p><p>In muscle biopsies from a patient with limb-girdle muscular dystrophy who was homozygous for a TMD haplotype, Haravuori et al. (2001) found almost complete loss of calpain-3 (CAPN3; 114240), a ligand of titin. The authors concluded that the loss of calpain-3 is a secondary downstream effect of deficiency of the TMD gene protein and results in phenotypic overlap with LGMDR1, which is caused by mutation in the calpain-3 gene. </p><p>Dabby et al. (2015) reported a 29-year-old man of Romanian and Hungarian descent who presented with slowly progressive proximal muscle weakness of the lower limbs resulting in difficulty climbing stairs and getting up from a seated position. He also had mild weakness of the shoulder girdle muscles. Laboratory studies showed increased serum creatine kinase, a myopathic and irritative pattern on EMG, nonspecific myopathic changes on muscle biopsy, including variability in fiber size, necrotic and regenerating fibers, and a lymphocytic infiltrate, and fatty replacement of muscles of the lower limb on MRI. He was treated with various immunomodulatory medications with no improvement. Muscle biopsy showed some reduction of C-terminal titin compared to controls, but it was not as severe as had been reported in other patients. </p><p>Zheng et al. (2016) reported 3 adult sibs from a consanguineous Han Chinese family with LGMDR10. The patients presented between 13 and 16 years of age with difficulty running and climbing, frequent falls, and Gowers sign. They developed proximal muscle weakness and atrophy affecting the lower and upper limbs. The disorder was progressive, and they developed elbow and ankle joint contractures; none was able to walk or raise their arms above their shoulders after their thirties. One patient also had lordosis. Skeletal muscle biopsy of 1 patient showed variation in fiber diameter, cell necrosis, fibrosis, and some regenerating fibers. Serum creatine kinase was increased in 2 patients. There was no cardiac involvement. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LGMDR10 in the family reported by Dabby et al. (2015) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>By genomewide scan of the large Finnish family with LGMD and TMD reported by Udd et al. (1992), Haravuori et al. (1997, 1998) found a region of interest on 2q. Further analyses with additional family members and additional families with TMD, yielded a maximum multipoint lod score of 12.4 with marker D2S324. Haplotype analysis revealed the same core haplotype in all analyzed families, providing evidence for an ancestral mutation, further restricting the critical chromosomal region to about 1 cM, and mapping the disease locus to chromosome 2q31. Three patients with the more severe LGMD phenotype were homozygous for the haplotype, whereas those with the milder TMD phenotype were heterozygous. </p>
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<strong>Molecular Genetics</strong>
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<p>In patients with LGMD2J from the large Finnish family reported by Udd et al. (1992), Hackman et al. (2002) identified homozygosity for an 11-bp deletion/insertion in the last exon (exon 363) of the TTN gene (188840.0004). Family members affected with the milder adult-onset TMD phenotype were heterozygous for the TTN deletion. </p><p>In a 29-year-old man of Romanian and Hungarian origin with a relatively mild form of LGMDR10, Dabby et al. (2015) identified compound heterozygous missense mutations at conserved residues in the TTN gene: K26320T (188840.0017) and A6135G (188840.0018). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants were not performed, but patient skeletal muscle biopsy showed a reduction in C-terminal titin compared to controls. </p><p>In 3 sibs from a consanguineous Han Chinese family with LGMDR10, Zheng et al. (2016) identified a homozygous missense mutation in the TTN gene (W35930R; 188840.0019). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. </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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<p class="mim-text-font">
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Bushby, K. M., Beckmann, J. S.
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<strong>The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002.</strong>
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Neuromusc. Disord. 13: 80-90, 2003.
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[PubMed: 12467737]
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[Full Text: https://doi.org/10.1016/s0960-8966(02)00183-9]
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Dabby, R., Sadeh, M., Hilton-Jones, D., Plotz, P., Hackman, P., Vihola, A., Udd, B., Leshinsky-Silver, E.
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<strong>Adult onset limb-girdle muscular dystrophy--a recessive titinopathy masquerading as myositis.</strong>
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J. Neurol. Sci. 351: 120-123, 2015.
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[PubMed: 25772186]
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[Full Text: https://doi.org/10.1016/j.jns.2015.03.001]
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Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., de Seze, J., Labeit, S., Witt, C., Peltonen, L., Richard, I., Udd, B.
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<strong>Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.</strong>
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Am. J. Hum. Genet. 71: 492-500, 2002.
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[PubMed: 12145747]
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[Full Text: https://doi.org/10.1086/342380]
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Haravuori, H., Makela-Bengs, P., Udd, B., Partanen, J., Pulkkinen, L., Somer, H., Peltonen, L.
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<strong>Assignment of the tibial muscular dystrophy locus to chromosome 2q31.</strong>
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Am. J. Hum. Genet. 62: 620-626, 1998.
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[PubMed: 9497249]
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[Full Text: https://doi.org/10.1086/301752]
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<p class="mim-text-font">
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Haravuori, H., Makela-Bengs, P., Udd, B., Pulkkinen, L., Partanen, J., Somer, H., Peltonen, L.
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<strong>Assignment of the tibial muscular dystrophy (TMD) locus on chromosome 2q31. (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997.
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<li>
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<p class="mim-text-font">
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Haravuori, H., Vihola, A., Straub, V., Auranen, M., Richard, I., Marchand, S., Voit, T., Labeit, S., Somer, H., Peltonen, L., Beckmann, J. S., Udd, B.
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<strong>Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.</strong>
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Neurology 56: 869-877, 2001.
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[PubMed: 11294923]
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[Full Text: https://doi.org/10.1212/wnl.56.7.869]
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<p class="mim-text-font">
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Straub, V., Murphy, A., Udd, B.
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<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
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Neuromusc. Disord. 28: 702-710, 2018.
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[PubMed: 30055862]
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[Full Text: https://doi.org/10.1016/j.nmd.2018.05.007]
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Udd, B., Kaarianen, H., Somer, H.
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<strong>Muscular dystrophy with separate clinical phenotypes in a large family.</strong>
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Muscle Nerve 14: 1050-1058, 1991.
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[PubMed: 1745277]
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[Full Text: https://doi.org/10.1002/mus.880141103]
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Udd, B., Rapola, J., Nokelainen, P., Arikawa, E., Somer, H.
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<strong>Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy.</strong>
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J. Neurol. Sci. 113: 214-221, 1992.
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[PubMed: 1487757]
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[Full Text: https://doi.org/10.1016/0022-510x(92)90249-k]
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Udd, B.
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<strong>Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?</strong>
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J. Med. Genet. 29: 383-389, 1992.
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[PubMed: 1619633]
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[Full Text: https://doi.org/10.1136/jmg.29.6.383]
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Zheng, W., Chen, H., Deng, X., Yuan, L., Yang, Y., Song, Z., Yang, Z., Wu, Y., Deng, H.
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<strong>Identification of a novel mutation in the titin gene in a Chinese family with limb-girdle muscular dystrophy 2J.</strong>
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Molec. Neurobiol. 53: 5097-5102, 2016.
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[PubMed: 26392295]
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[Full Text: https://doi.org/10.1007/s12035-015-9439-0]
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Cassandra L. Kniffin - updated : 04/16/2019
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Cassandra L. Kniffin : 7/19/2004
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alopez : 09/26/2019<br>alopez : 04/17/2019<br>ckniffin : 04/16/2019<br>carol : 09/25/2018<br>carol : 03/27/2017<br>carol : 06/20/2016<br>carol : 7/28/2004<br>ckniffin : 7/23/2004<br>ckniffin : 7/20/2004
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