4513 lines
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Entry
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- #253601 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2
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- OMIM
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<p>
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<span class="h4">#253601</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/253601"><strong>Clinical Synopsis</strong></a>
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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="#diagnosis">Diagnosis</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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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=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=8720&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1303/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4237" 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=253601[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=268" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110276" 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/253601" 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:0110276" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:253601" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<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> 718179003<br />
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<strong>ICD10CM:</strong> G71.033<br />
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<strong>ORPHA:</strong> 268<br />
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<strong>DO:</strong> 0110276<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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253601
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2
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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>
|
|
<span class="mim-font">
|
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B<br />
|
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3; LGMD3
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/2/351?start=-3&limit=10&highlight=351">
|
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2p13.2
|
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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 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<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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<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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DYSF
|
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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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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/253601" 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')">
|
|
<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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|
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<a href="/phenotypicSeries/PS253600" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
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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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/253601" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/253601" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
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<p />
|
|
</div>
|
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Primarily affects lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673337</a>]</span><br /> -
|
|
Difficulty climbing stairs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282195009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282195009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003551</a>]</span><br /> -
|
|
Difficulty running <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282479002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282479002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0560346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0560346</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009046</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009046</a>]</span><br /> -
|
|
Increased fatigue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673338</a>]</span><br /> -
|
|
Upper limb involvement occurs later or not at all <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673339</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 /> -
|
|
Increased variation in fiber size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span><br /> -
|
|
Fiber splitting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836057</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003555</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003555</a>]</span><br /> -
|
|
Increased connective tissue and fat in muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673340</a>]</span><br /> -
|
|
Necrotic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1334928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1334928</a>]</span><br /> -
|
|
Amyloid deposition in muscle fibers (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232442</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Age at onset 15 to 25 years<br /> -
|
|
Slow progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
|
|
Many patients lose independent mobility after 25 years<br /> -
|
|
Onset in infancy was reported in 1 family<br /> -
|
|
Heterozygous mutation carriers may have late-onset of mild symptoms<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the dysferlin gene (DYSF, <a href="/entry/603009#0003">603009.0003</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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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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|
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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>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
|
|
|
|
</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">
|
|
|
|
<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/613157"> 613157 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606822"> POMGNT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606822"> 606822 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1466?start=-3&limit=10&highlight=1466"> 1q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617072"> ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures </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/617072"> 617072 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614512"> TOR1AIP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614512"> 614512 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/351?start=-3&limit=10&highlight=351"> 2p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253601"> Muscular dystrophy, limb-girdle, autosomal recessive 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>
|
|
<span class="mim-font">
|
|
<a href="/entry/253601"> 253601 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603009"> DYSF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603009"> 603009 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/625?start=-3&limit=10&highlight=625"> 2q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616827"> ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue </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/616827"> 616827 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607908"> LIMS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607908"> 607908 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608807"> Muscular dystrophy, limb-girdle, autosomal recessive 10 </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/608807"> 608807 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> TTN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> 188840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<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>
|
|
|
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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/601287"> Muscular dystrophy, limb-girdle, autosomal recessive 6 </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/601287"> 601287 </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/601411"> SGCD </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/601411"> 601411 </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/6/743?start=-3&limit=10&highlight=743"> 6q21 </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/616812"> Muscular dystrophy, limb-girdle, autosomal recessive 25 </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/616812"> 616812 </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/604577"> BVES </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/604577"> 604577 </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/6/744?start=-3&limit=10&highlight=744"> 6q21 </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/618848"> Muscular dystrophy, limb-girdle, autosomal recessive 26 </a>
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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="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>
|
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<td>
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<span class="mim-font">
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|
<a href="/entry/618848"> 618848 </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/605824"> POPDC3 </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/605824"> 605824 </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/6/842?start=-3&limit=10&highlight=842"> 6q22.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618138"> Muscular dystrophy, limb-girdle, autosomal recessive 23 </a>
|
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</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/618138"> 618138 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156225"> LAMA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156225"> 156225 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/83?start=-3&limit=10&highlight=83"> 7p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616052"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 </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/616052"> 616052 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614631"> CRPPA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614631"> 614631 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613723"> Muscular dystrophy, limb-girdle, autosomal recessive 17 </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/613723"> 613723 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611588"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 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/611588"> 611588 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607440"> FKTN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607440"> 607440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/453?start=-3&limit=10&highlight=453"> 9q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/254110"> Muscular dystrophy, limb-girdle, autosomal recessive 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/254110"> 254110 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602290"> TRIM32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602290"> 602290 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/589?start=-3&limit=10&highlight=589"> 9q34.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609308"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 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/609308"> 609308 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607423"> POMT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607423"> 607423 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/243?start=-3&limit=10&highlight=243"> 11p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611307"> Muscular dystrophy, limb-girdle, autosomal recessive 12 </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/611307"> 611307 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608662"> ANO5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608662"> 608662 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/30?start=-3&limit=10&highlight=30"> 13q12.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253700"> 253700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608896"> SGCG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608896"> 608896 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<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>
|
|
<span class="mim-font">
|
|
<a href="/entry/613158"> 613158 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607439"> POMT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607439"> 607439 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/600?start=-3&limit=10&highlight=600"> 14q32.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619566"> Muscular dystrophy, limb-girdle, autosomal recessive 27 </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/619566"> 619566 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602570"> JAG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602570"> 602570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<a href="/entry/253600"> Muscular dystrophy, limb-girdle, autosomal recessive 1 </a>
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<a href="/entry/620793"> Muscular dystrophy, limb-girdle, autosomal recessive 29 </a>
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<a href="/entry/601954"> Muscular dystrophy, limb-girdle, autosomal recessive 7 </a>
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<a href="/entry/608099"> Muscular dystrophy, limb-girdle, autosomal recessive 3 </a>
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<a href="/entry/607155"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 </a>
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<a href="/entry/254090"> Ullrich congenital muscular dystrophy 1A </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<p>A number sign (#) is used with this entry because autosomal recessive limb-girdle muscular dystrophy-2 (LGMDR2) is caused by homozygous or compound heterozygous mutation in the DYSF gene (DYSF; <a href="/entry/603009">603009</a>), encoding the skeletal muscle protein dysferlin, on chromosome 2p13.</p><p>See also Miyoshi myopathy (MDM1; <a href="/entry/254130">254130</a>) and distal myopathy with anterior tibial onset (DMAT; <a href="/entry/606768">606768</a>), allelic disorders characterized by more distal muscle involvement.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of LGMD, see LGMDR1 (<a href="/entry/253600">253600</a>).</p>
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<p>At the 229th ENMC international workshop, <a href="#18" 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, LGMD2B was renamed LGMDR2. <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><p>In a review of the limb-girdle muscular dystrophies, including 8 autosomal dominant and 5 autosomal recessive forms, <a href="#4" class="mim-tip-reference" title="Bushby, K. M. D. <strong>The limb-girdle muscular dystrophies--multiple genes, multiple mechanisms.</strong> Hum. Molec. Genet. 8: 1875-1882, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10469840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10469840</a>] [<a href="https://doi.org/10.1093/hmg/8.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10469840">Bushby (1999)</a> referred to Miyoshi myopathy and LGMD2B as 'dysferlinopathies.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10469840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Bashir, R., Strachan, T., Keers, S., Stephenson, A., Mahjneh, I., Marconi, G., Nashef, L., Bushby, K. M. D. <strong>A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.</strong> Hum. Molec. Genet. 3: 455-457, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012357</a>] [<a href="https://doi.org/10.1093/hmg/3.3.455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012357">Bashir et al. (1994)</a> reported 2 unrelated consanguineous families, 1 of Palestinian and 1 of Sicilian origin, with autosomal recessive LGMD. Age at onset ranged from 15 to 25 years with difficulty in climbing stairs, fatigue, weakness, and markedly elevated serum creatine kinase. EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some necrotic changes. Disease progression was relatively slow. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012357" 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="#21" class="mim-tip-reference" title="Weiler, T., Greenberg, C. R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D., Wrogemann, K. <strong>Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.</strong> Am. J. Hum. Genet. 59: 872-878, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808603</a>]" pmid="8808603">Weiler et al. (1996)</a> reported a large, inbred, aboriginal Canadian kindred in which 7 patients presented with limb-girdle muscular dystrophy, whereas 2 manifested predominantly distal wasting and weakness consistent with Miyoshi myopathy. Those with LGMD all developed distal involvement and all but 1 were wheelchair-bound. Those with distal presentation later showed proximal muscle involvement. Age at onset of weakness was in adolescence. Both types of disorder showed increased serum creatine kinase and similar dystrophic changes on muscle biopsy. There was no evidence of cardiac involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808603" 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="#10" class="mim-tip-reference" title="Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Tanaka, H., Vereshchagin, N. V., Markova, E. D., Poleshchuk, V. V., Lozhnikova, S. M., Sukhorukov, V. S., Limborska, S. A., Slominsky, P. A., Bulayeva, K. B., Tsuji, S. <strong>Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.</strong> Brain 119: 1895-1909, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009996</a>] [<a href="https://doi.org/10.1093/brain/119.6.1895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9009996">Illarioshkin et al. (1996)</a> reported a 6-generation consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan with 2 forms of progressive muscular dystrophy. Seven patients developed classical LGMD with disease onset between 15 and 30 years and loss of ambulation within a 25-year course. The second group included 3 patients with a slowly progressive distal myopathy first manifested in the late teens and confined to the tibial and calf muscles. Each of these phenotypes segregated independently as an autosomal recessive trait and muscle biopsies showed non-specific myopathic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9009996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., Sadeh, M., Mahjneh, I., Marconi, G., Passos-Bueno, M. R., Moreira, E. S., Zatz, M., Beckmann, J. S., Bushby, K. <strong>A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.</strong> Nature Genet. 20: 37-42, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731527</a>] [<a href="https://doi.org/10.1038/1689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731527">Bashir et al. (1998)</a> reported 8 Libyan Jewish families with LGMD2B. The 25 patients in these families showed onset of the disease between 12 and 39 years of age (mean 19.5 +/- 5 years). All had lower limb involvement on average 9 years before upper limb symptoms. Thirteen patients (52%) presented with distal lower limb muscle weakness, mostly of the gastrocnemius, with some complaining of transient calf enlargement. Intrafamilial variability was seen in the distribution of muscle weakness. Only 6 patients had lost the ability to walk independently; all of these were older than 35 years. Muscle biopsy showed chronic myopathic changes, and creatine kinase was elevated to 10-25 times normal in all affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731527" 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="#15" class="mim-tip-reference" title="Passos-Bueno, M. R., Vainzof, M., Moreira, E. S., Zatz, M. <strong>Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.</strong> Am. J. Med. Genet. 82: 392-398, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10069710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10069710</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10069710">Passos-Bueno et al. (1999)</a> studied 140 patients from 40 Brazilian families with one of 7 autosomal recessive limb-girdle muscular dystrophies (LGMDs). All LGMD2E (LGMDR4; <a href="/entry/604286">604286</a>) and LGMD2F (LGMDR6; <a href="/entry/601287">601287</a>) patients had a severe phenotype; considerable inter- and intrafamilial variability was observed in all other types of LGMD. Among the sarcoglycanopathies, serum CK levels were highest in the LGMD2D (LGMDR3; <a href="/entry/608099">608099</a>) patients. Comparison between 40 LGMD2A (LGMDR1; <a href="/entry/253600">253600</a>) patients and 52 LGMD2B patients showed that LGMD2A patients had a more severe course and higher frequency of calf hypertrophy (86% vs 13%), and that LGMD2B patients were more likely to be unable to walk on toes (70% vs 18%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10069710" 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="McNally, E. M., Ly, C. T., Rosenmann, H., Rosenbaum, S. M., Jiang, W., Anderson, L. V. B., Soffer, D., Argov, Z. <strong>Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.</strong> Am. J. Med. Genet. 91: 305-312, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10766988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10766988</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000410)91:4<305::aid-ajmg12>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10766988">McNally et al. (2000)</a> reported a large inbred pedigree of Yemenite Jewish descent with LGMD2B. These patients had slowly progressive muscular weakness of the lower limbs, both distal and proximal, beginning in the late second decade of life. Most developed upper limb involvement within 10 years. Three of 6 patients became wheelchair-bound. The patients had markedly elevated serum creatine kinase levels, and 2 of the 4 patients from whom muscle biopsies were available demonstrated an inflammatory process, a finding not previously described in LGMD. Mutation analysis demonstrated a homozygous mutation in the DYSF gene (<a href="/entry/609003#0008">609003.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10766988" 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="#7" class="mim-tip-reference" title="Illa, I., De Luna, N., Dominguez-Perles, R., Rojas-Garcia, R., Paradas, C., Palmer, J., Marquez, C., Gallano, P., Gallardo, E. <strong>Symptomatic dysferlin gene mutation carriers: characterization of two cases.</strong> Neurology 68: 1284-1289, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17287450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17287450</a>] [<a href="https://doi.org/10.1212/01.wnl.0000256768.79353.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17287450">Illa et al. (2007)</a> reported a 54-year-old woman who presented with a 3-year history of progressive fatigue while walking and difficulty climbing stairs. She had proximal muscle weakness of the lower limbs, increased serum creatine kinase and evidence of fatty infiltration of the lower limb muscles on MRI; mutation analysis showed that she was a heterozygous mutation carrier (D625Y; <a href="/entry/603009#0013">603009.0013</a>). Her brother had a full LGMD2B phenotype and was compound heterozygous the D625Y mutation and a second missense mutation (<a href="/entry/603009#0014">603009.0014</a>) in the DYSF gene. Although immunostaining and Western blot analysis showed decreased dysferlin levels in the woman's muscle, RT-PCR showed normal levels of DYSF mRNA. The findings indicated that heterozygous DYSF mutation carriers may develop late-onset milder manifestations of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17287450" 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="#17" class="mim-tip-reference" title="Spuler, S., Carl, M., Zabojszcza, J., Straub, V., Bushby, K., Moore, S. A., Bahring, S., Wenzel, K., Vinkemeier, U., Rocken, C. <strong>Dysferlin-deficient muscular dystrophy features amyloidosis.</strong> Ann. Neurol. 63: 323-328, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18306167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18306167</a>] [<a href="https://doi.org/10.1002/ana.21309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18306167">Spuler et al. (2008)</a> reported 2 sibs with LGMD2B caused by compound heterozygosity for mutations in the DYSF gene (G299R, <a href="/entry/603009#0017">603009.0017</a>; <a href="/entry/603009#0020">603009.0020</a>). Skeletal muscle biopsy showed amyloid fibrils on skeletal muscle biopsy. Amyloid was located in the sarcolemma of muscle cells as well as in blood vessel walls and interstitium. <a href="#17" class="mim-tip-reference" title="Spuler, S., Carl, M., Zabojszcza, J., Straub, V., Bushby, K., Moore, S. A., Bahring, S., Wenzel, K., Vinkemeier, U., Rocken, C. <strong>Dysferlin-deficient muscular dystrophy features amyloidosis.</strong> Ann. Neurol. 63: 323-328, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18306167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18306167</a>] [<a href="https://doi.org/10.1002/ana.21309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18306167">Spuler et al. (2008)</a> postulated that the G299R mutation destabilized the protein structure of dysferlin and increased the propensity to form amyloid fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18306167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Paradas, C., Gonzalez-Quereda, L., De Luna, N., Gallardo, E., Garcia-Consuegra, I., Gomez, H., Cabello, A., Illa, I., Gallano, P. <strong>A new phenotype of dysferlinopathy with congenital onset.</strong> Neuromusc. Disord. 19: 21-25, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19084402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19084402</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.09.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19084402">Paradas et al. (2009)</a> reported 2 Spanish sibs, aged 2 and 5 years, with a congenital muscular dystrophy associated with a homozygous truncating mutation in the DYSF gene (2779delG; <a href="/entry/603009#0021">603009.0021</a>). Both showed hypotonia in infancy and difficulty walking, running, and climbing stairs. There was neck and pelvic muscle weakness. The older patient developed increased serum creatine kinase after age 3. There were no abnormalities in muscle bulk or facial or bulbar motor functions, and no skeletal abnormalities. MRI of the older patient at age 5 showed myoedema of the hamstrings and medial gastrocnemius; these changes were not observed in the other affected sib at age 2. Muscle biopsy showed mild dystrophic features and absent dysferlin expression. <a href="#12" class="mim-tip-reference" title="Paradas, C., Gonzalez-Quereda, L., De Luna, N., Gallardo, E., Garcia-Consuegra, I., Gomez, H., Cabello, A., Illa, I., Gallano, P. <strong>A new phenotype of dysferlinopathy with congenital onset.</strong> Neuromusc. Disord. 19: 21-25, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19084402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19084402</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.09.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19084402">Paradas et al. (2009)</a> emphasized the early onset of the disorder in these sibs, and suggested that they have a novel phenotype not previously associated with DYSF mutations, which may be due to genetic modifiers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19084402" 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 LGMD2B in the families reported by <a href="#1" class="mim-tip-reference" title="Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., Sadeh, M., Mahjneh, I., Marconi, G., Passos-Bueno, M. R., Moreira, E. S., Zatz, M., Beckmann, J. S., Bushby, K. <strong>A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.</strong> Nature Genet. 20: 37-42, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731527</a>] [<a href="https://doi.org/10.1038/1689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731527">Bashir et al. (1998)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Cacciottolo, M., Numitone, G., Aurino, S., Caserta, I. R., Fanin, M., Politano, L., Minetti, C., Ricci, E., Piluso, G., Angelini, C., Nigro, V. <strong>Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations.</strong> Europ. J. Hum. Genet. 19: 974-980, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21522182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21522182</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21522182[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/10.1038/ejhg.2011.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21522182">Cacciottolo et al. (2011)</a> found that all of 55 patients with an undetermined LGMD clinical phenotype and 10 patients with a Miyoshi myopathy phenotype who had less than 20% dysferlin on skeletal muscle biopsy determined by Western blot analysis had pathogenic mutations in the DYSF gene. Exhaustive mutation analysis was performed, including genomic DNA sequencing, mRNA analysis, array CGH, and PCR. Sixty-five different mutations were identified throughout the gene and there were no mutation hotspots. <a href="#5" class="mim-tip-reference" title="Cacciottolo, M., Numitone, G., Aurino, S., Caserta, I. R., Fanin, M., Politano, L., Minetti, C., Ricci, E., Piluso, G., Angelini, C., Nigro, V. <strong>Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations.</strong> Europ. J. Hum. Genet. 19: 974-980, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21522182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21522182</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21522182[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/10.1038/ejhg.2011.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21522182">Cacciottolo et al. (2011)</a> noted the difficulty of sequencing the DYSF gene because of its larger size, and concluded that protein analysis showing a dysferlin reduction to 20% of normal values in skeletal muscle or in peripheral blood monocytes can be used to identify LGMD2B/MMD1 caused by DYSF mutations with 100% accuracy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21522182" 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 a study of 11 large Brazilian LGMD families of different racial backgrounds, <a href="#14" class="mim-tip-reference" title="Passos-Bueno, M. R., Richard, I., Vainzof, M., Fougerousse, F., Weissenbach, J., Broux, O., Cohen, D., Akiyama, J., Marie, S. K. N., Carvalho, A. A., Guilherme, L., Kalil, J., Tsanaclis, A. M. T., Zatz, M., Beckmann, J. S. <strong>Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.</strong> J. Med. Genet. 30: 385-387, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8320700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8320700</a>] [<a href="https://doi.org/10.1136/jmg.30.5.385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8320700">Passos-Bueno et al. (1993)</a> excluded 6 families from linkage to the LGMD2A locus on 15q. The findings indicated genetic heterogeneity in LGMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8320700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bashir, R., Strachan, T., Keers, S., Stephenson, A., Mahjneh, I., Marconi, G., Nashef, L., Bushby, K. M. D. <strong>A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.</strong> Hum. Molec. Genet. 3: 455-457, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012357</a>] [<a href="https://doi.org/10.1093/hmg/3.3.455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012357">Bashir et al. (1994)</a> mapped a form of LGMD (LGMD2B) to short tandem repeat polymorphisms D2S134 and D2S136 on chromosome 2p16-p13. The maximum lod score was 3.57 at zero recombination. The phenotype in the 2 families was similar, with onset in the pelvic girdle musculature in the late teens and usually relatively slow progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012357" 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="#13" class="mim-tip-reference" title="Passos-Bueno, M. R., Bashir, R., Moreira, E. S., Vainzof, M., Marie, S. K., Vasquez, L., Iughetti, P., Bakker, E., Keers, S., Stephenson, A., Strachan, T., Mahneh, I., Weissenbach, J., Bushby, K., Zatz, M. <strong>Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.</strong> Genomics 27: 192-195, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7665169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7665169</a>] [<a href="https://doi.org/10.1006/geno.1995.1024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7665169">Passos-Bueno et al. (1995)</a> confirmed the assignment to 2p in their Brazilian families with autosomal recessive LGMD. Haplotypes generated from 5 chromosome 2 markers from all of the known large families linked to 2p were reported together with the recombinants which showed the most likely location of the LGMD2B gene to be between D2S292 and D2S286, a region of approximately 4 cM located 9-cM distal to the linked markers originally described. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7665169" 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="Bashir, R., Keers, S., Strachan, T., Passos-Bueno, R., Zatz, M., Weissenbach, J., Le Paslier, D., Meisler, M., Bushby, K. <strong>Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.</strong> Genomics 33: 46-52, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617508</a>] [<a href="https://doi.org/10.1006/geno.1996.0157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8617508">Bashir et al. (1996)</a> assembled a 6-cM YAC contig spanning the LGMD2B locus and mapped 7 genes and 13 anonymous polymorphic microsatellites to it. Using haplotype analysis in the linked families, they narrowed the region of interest to an interval between D2S2113 and D2S2112/D2S145. By fluorescence in situ hybridization mapping of YACs positive for closely linked markers, they defined the distal and proximal boundaries of the LGMD2B gene to be 2p13.3 and 2p13.1, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8617508" 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 an aboriginal Canadian family that segregated both LGMD and Miyoshi myopathy, <a href="#21" class="mim-tip-reference" title="Weiler, T., Greenberg, C. R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D., Wrogemann, K. <strong>Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.</strong> Am. J. Hum. Genet. 59: 872-878, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808603</a>]" pmid="8808603">Weiler et al. (1996)</a> found significant linkage to a locus spanning the region of LGMD2B on chromosome 2p (lod scores greater than 3.0). Although the family was highly consanguineous, 2 different core haplotypes were identified. Six patients, including the 2 with MM, were homozygous for a haplotype encompassing a 4-cM region spanned by D2S291-D2S2145-D2S286. The 3 other patients were compound heterozygous for the 4-cM haplotype and an additional haplotype. The findings indicated that there were 2 mutant alleles of independent origin in this kindred. However, since the haplotypes did not distinguish between the LGMD and MM phenotypes, <a href="#21" class="mim-tip-reference" title="Weiler, T., Greenberg, C. R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D., Wrogemann, K. <strong>Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.</strong> Am. J. Hum. Genet. 59: 872-878, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808603</a>]" pmid="8808603">Weiler et al. (1996)</a> concluded that LGMD and MM in this aboriginal Canadian population are caused by the same mutation in LGMD2B and that additional factors, both genetic and nongenetic, must have contributed to the clinical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808603" 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>By linkage analysis of a consanguineous family with both proximal and distal AR muscular dystrophy, <a href="#10" class="mim-tip-reference" title="Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Tanaka, H., Vereshchagin, N. V., Markova, E. D., Poleshchuk, V. V., Lozhnikova, S. M., Sukhorukov, V. S., Limborska, S. A., Slominsky, P. A., Bulayeva, K. B., Tsuji, S. <strong>Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.</strong> Brain 119: 1895-1909, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009996</a>] [<a href="https://doi.org/10.1093/brain/119.6.1895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9009996">Illarioshkin et al. (1996)</a> found linkage to a 6-cM region on 2p between D2S292 and D2S286 (maximum lod score of 5.64 at D2S291). The authors also demonstrated homozygosity by descent at the critical chromosomal region in all patients, thus providing evidence for a common genetic basis of the 2 clinical phenotypes. <a href="#9" class="mim-tip-reference" title="Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Tanaka, H., Poleshchuk, V. V., Markova, E. D., Tsuji, S. <strong>Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.</strong> Genomics 42: 345-348, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192858</a>] [<a href="https://doi.org/10.1006/geno.1997.4725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9192858">Illarioshkin et al. (1997)</a> reported extended haplotypes generated from 15 microsatellite markers, including 7 new markers, and thereby narrowed the locus on 2p13 to a region between D2S327 and D2S2111. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9009996+9192858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 8 Libyan Jewish families with LGMD2B, <a href="#1" class="mim-tip-reference" title="Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., Sadeh, M., Mahjneh, I., Marconi, G., Passos-Bueno, M. R., Moreira, E. S., Zatz, M., Beckmann, J. S., Bushby, K. <strong>A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.</strong> Nature Genet. 20: 37-42, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731527</a>] [<a href="https://doi.org/10.1038/1689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731527">Bashir et al. (1998)</a> identified a homozygous mutation in the DYSF gene (<a href="/entry/603009#0005">603009.0005</a>). In a ninth Libyan Jewish family, with a single affected member, the mutation was detected in single copy; one of the parents, who did not carry the mutation, was of Romanian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large Canadian aboriginal kindred reported by <a href="#21" class="mim-tip-reference" title="Weiler, T., Greenberg, C. R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D., Wrogemann, K. <strong>Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.</strong> Am. J. Hum. Genet. 59: 872-878, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808603</a>]" pmid="8808603">Weiler et al. (1996)</a>, <a href="#20" class="mim-tip-reference" title="Weiler, T., Bashir, R., Anderson, L. V. B., Davison, K., Moss, J. A., Britton, S., Nylen, E., Keers, S., Vafiadaki, E., Greenberg, C. R., Bushby, K. M. D., Wrogemann, K. <strong>Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).</strong> Hum. Molec. Genet. 8: 871-877, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196377</a>] [<a href="https://doi.org/10.1093/hmg/8.5.871" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10196377">Weiler et al. (1999)</a> found that both patients with LGMD2B and patients with MM were homozygous for a mutation in the dysferlin gene (P791R; <a href="/entry/603009#0007">603009.0007</a>). Four additional patients from 2 previously unpublished families also had this mutation and haplotype analysis suggested a common origin of the mutation in all patients. On Western blots of muscle, LGMD2B and MM patients showed a similar abundance of dysferlin staining of 15% and 11%, respectively. Normal tissue sections showed that dysferlin localizes to the sarcolemma, while tissue sections from MM and LGMD patients showed minimal staining which was indistinguishable between the 2 types. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8808603+10196377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large inbred Russian family with both LGMD2B and Miyoshi myopathy reported by <a href="#10" class="mim-tip-reference" title="Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Tanaka, H., Vereshchagin, N. V., Markova, E. D., Poleshchuk, V. V., Lozhnikova, S. M., Sukhorukov, V. S., Limborska, S. A., Slominsky, P. A., Bulayeva, K. B., Tsuji, S. <strong>Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.</strong> Brain 119: 1895-1909, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009996</a>] [<a href="https://doi.org/10.1093/brain/119.6.1895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9009996">Illarioshkin et al. (1996)</a>, <a href="#8" class="mim-tip-reference" title="Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Greenberg, C. R., Nylen, E., Sukhorukov, V. S., Poleshchuk, V. V., Markova, E. D., Wrogemann, K. <strong>Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.</strong> Neurology 55: 1931-1933, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134403</a>] [<a href="https://doi.org/10.1212/wnl.55.12.1931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134403">Illarioshkin et al. (2000)</a> identified a homozygous mutation in the DYSF gene (V67D; <a href="/entry/603009#0009">603009.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9009996+11134403" 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 affected members from 5 families from Sueca, Spain, with a dysferlinopathy, <a href="#19" class="mim-tip-reference" title="Vilchez, J. J., Gallano, P., Gallardo, E., Lasa, A., Rojas-Garcia, R., Freixas, A., De Luna, N., Calafell, F., Sevilla, T., Mayordomo, F., Baiget, M., Illa, I. <strong>Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.</strong> Arch. Neurol. 62: 1256-1259, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16087766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16087766</a>] [<a href="https://doi.org/10.1001/archneur.62.8.1256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16087766">Vilchez et al. (2005)</a> identified a homozygous mutation in the DYSF gene (R1905X; <a href="/entry/603009#0012">603009.0012</a>). Two families presented with Miyoshi myopathy, 2 presented with distal myopathy with anterior tibial onset, and 1 presented with LGMD2B. Although the same mutation resulted in different phenotypes, affected members of each family expressed the same phenotype. Haplotype analysis indicated a founder effect. Sueca was founded in 1245 by 17 settlers belonging to the Hospital Order, which received land from King James I of Aragon as a reward for help in reconquering Valencia from the Moors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16087766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Guglieri, M., Magri, F., D'Angelo, M. G., Prelle, A., Morandi, L., Rodolico, C., Cagliani, R., Mora, M., Fortunato, F., Bordoni, A., Del Bo, R., Ghezzi, S., and 16 others. <strong>Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy.</strong> Hum. Mutat. 29: 258-266, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994539</a>] [<a href="https://doi.org/10.1002/humu.20642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994539">Guglieri et al. (2008)</a> found that LGMD2B was the second most common form of LGMD after LGMD2A among 155 Italian probands. LGMD2B occurred in 18.7% of probands, whereas LGMD2A occurred in 28.4%. In LGMD2B, there was a correlation between mutation type, age at onset, and protein levels. Patients with truncating mutations in the DYSF gene had an earlier age at onset and an absence of protein on muscle biopsy, whereas patients with missense mutations had some residual protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994539" 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 6 unrelated Portuguese male patients with LGMD2B, <a href="#16" class="mim-tip-reference" title="Santos, R., Oliveira, J., Vieira, E., Coelho, T., Carneiro, A. L., Evangelista, T., Dias, C., Fortuna, A., Geraldo, A., Negrao, L., Guimaraes, A., Bronze-da-Rocha, E. <strong>Private dysferlin exon skipping mutation (c.5492G-A) with a founder effect reveals further alternative splicing involving exons 49-51.</strong> J. Hum. Genet. 55: 546-549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20535123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20535123</a>] [<a href="https://doi.org/10.1038/jhg.2010.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20535123">Santos et al. (2010)</a> identified a mutation in the DYSF gene (5492G-A; <a href="/entry/603009#0022">603009.0022</a>). A seventh Portuguese patient was compound heterozygous for the 5492G-A mutation and another pathogenic DYSF mutation. The 5492G-A mutation was not found in 240 control alleles, and haplotype analysis supported a founder effect for the mutation. All 7 patients originated or resided in a confined region of the northern interior part of Portugal. Although most patients had a limb-girdle muscular dystrophy, there was some phenotypic variation: 1 patient presented with distal muscle weakness in the lower limbs, and another had cardiac arrhythmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20535123" 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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Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., Sadeh, M., Mahjneh, I., Marconi, G., Passos-Bueno, M. R., Moreira, E. S., Zatz, M., Beckmann, J. S., Bushby, K.
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<strong>A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.</strong>
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Nature Genet. 20: 37-42, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731527" 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/10.1038/1689" target="_blank">Full Text</a>]
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<strong>Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.</strong>
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Genomics 33: 46-52, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8617508" 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/10.1006/geno.1996.0157" target="_blank">Full Text</a>]
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Bashir, R., Strachan, T., Keers, S., Stephenson, A., Mahjneh, I., Marconi, G., Nashef, L., Bushby, K. M. D.
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[<a href="https://doi.org/10.1093/hmg/3.3.455" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/8.10.1875" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ejhg.2011.70" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.20642" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000256768.79353.60" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.55.12.1931" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4725" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/119.6.1895" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(20000410)91:4<305::aid-ajmg12>3.0.co;2-s" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2008.09.015" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1024" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.30.5.385" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/jhg.2010.60" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.21309" target="_blank">Full Text</a>]
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Vilchez, J. J., Gallano, P., Gallardo, E., Lasa, A., Rojas-Garcia, R., Freixas, A., De Luna, N., Calafell, F., Sevilla, T., Mayordomo, F., Baiget, M., Illa, I.
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<strong>Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.</strong>
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Arch. Neurol. 62: 1256-1259, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16087766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16087766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16087766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.62.8.1256" target="_blank">Full Text</a>]
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<a id="Weiler1999" class="mim-anchor"></a>
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Weiler, T., Bashir, R., Anderson, L. V. B., Davison, K., Moss, J. A., Britton, S., Nylen, E., Keers, S., Vafiadaki, E., Greenberg, C. R., Bushby, K. M. D., Wrogemann, K.
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<strong>Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).</strong>
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Hum. Molec. Genet. 8: 871-877, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10196377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.5.871" target="_blank">Full Text</a>]
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<a id="Weiler1996" class="mim-anchor"></a>
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Weiler, T., Greenberg, C. R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D., Wrogemann, K.
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<strong>Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.</strong>
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Am. J. Hum. Genet. 59: 872-878, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/22/2011
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Cassandra L. Kniffin - updated : 11/1/2010<br>Cassandra L. Kniffin - updated : 11/4/2009<br>Cassandra L. Kniffin - updated : 3/24/2009<br>Cassandra L. Kniffin - updated : 3/10/2008<br>Cassandra L. Kniffin - updated : 12/5/2007<br>Cassandra L. Kniffin - reorganized : 12/4/2007<br>Victor A. McKusick - updated : 10/12/1999<br>Ada Hamosh - updated : 4/9/1999<br>Victor A. McKusick - updated : 8/27/1998<br>Victor A. McKusick - updated : 3/16/1998
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Creation Date:
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Victor A. McKusick : 7/9/1993
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alopez : 09/13/2024
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carol : 09/25/2018<br>carol : 06/21/2016<br>carol : 9/17/2013<br>carol : 9/29/2011<br>ckniffin : 9/22/2011<br>wwang : 12/9/2010<br>ckniffin : 11/1/2010<br>terry : 12/17/2009<br>wwang : 11/18/2009<br>ckniffin : 11/4/2009<br>wwang : 4/1/2009<br>ckniffin : 3/24/2009<br>wwang : 3/12/2008<br>ckniffin : 3/10/2008<br>wwang : 12/11/2007<br>ckniffin : 12/5/2007<br>ckniffin : 12/4/2007<br>terry : 11/11/2003<br>ckniffin : 9/23/2003<br>mcapotos : 9/22/2000<br>mcapotos : 9/15/2000<br>alopez : 11/8/1999<br>carol : 10/12/1999<br>alopez : 4/9/1999<br>alopez : 8/31/1998<br>terry : 8/27/1998<br>dholmes : 4/1/1998<br>alopez : 3/16/1998<br>terry : 2/25/1998<br>mark : 7/16/1997<br>terry : 1/8/1997<br>mark : 10/25/1996<br>terry : 10/16/1996<br>carol : 6/22/1996<br>mark : 4/22/1996<br>terry : 4/10/1996<br>mark : 10/31/1995<br>carol : 4/13/1994<br>mimadm : 3/11/1994<br>carol : 7/9/1993
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<strong>#</strong> 253601
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2
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<em>Alternative titles; symbols</em>
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B<br />
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3; LGMD3
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<strong>SNOMEDCT:</strong> 718179003;
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<strong>ICD10CM:</strong> G71.033;
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<strong>ORPHA:</strong> 268;
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<strong>DO:</strong> 0110276;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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2p13.2
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Muscular dystrophy, limb-girdle, autosomal recessive 2
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253601
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Autosomal recessive
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3
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DYSF
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603009
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal recessive limb-girdle muscular dystrophy-2 (LGMDR2) is caused by homozygous or compound heterozygous mutation in the DYSF gene (DYSF; 603009), encoding the skeletal muscle protein dysferlin, on chromosome 2p13.</p><p>See also Miyoshi myopathy (MDM1; 254130) and distal myopathy with anterior tibial onset (DMAT; 606768), allelic disorders characterized by more distal muscle involvement.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of LGMD, see LGMDR1 (253600).</p>
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<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, LGMD2B was renamed LGMDR2. </p><p>In a review of the limb-girdle muscular dystrophies, including 8 autosomal dominant and 5 autosomal recessive forms, Bushby (1999) referred to Miyoshi myopathy and LGMD2B as 'dysferlinopathies.' </p>
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<strong>Clinical Features</strong>
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<p>Bashir et al. (1994) reported 2 unrelated consanguineous families, 1 of Palestinian and 1 of Sicilian origin, with autosomal recessive LGMD. Age at onset ranged from 15 to 25 years with difficulty in climbing stairs, fatigue, weakness, and markedly elevated serum creatine kinase. EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some necrotic changes. Disease progression was relatively slow. </p><p>Weiler et al. (1996) reported a large, inbred, aboriginal Canadian kindred in which 7 patients presented with limb-girdle muscular dystrophy, whereas 2 manifested predominantly distal wasting and weakness consistent with Miyoshi myopathy. Those with LGMD all developed distal involvement and all but 1 were wheelchair-bound. Those with distal presentation later showed proximal muscle involvement. Age at onset of weakness was in adolescence. Both types of disorder showed increased serum creatine kinase and similar dystrophic changes on muscle biopsy. There was no evidence of cardiac involvement. </p><p>Illarioshkin et al. (1996) reported a 6-generation consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan with 2 forms of progressive muscular dystrophy. Seven patients developed classical LGMD with disease onset between 15 and 30 years and loss of ambulation within a 25-year course. The second group included 3 patients with a slowly progressive distal myopathy first manifested in the late teens and confined to the tibial and calf muscles. Each of these phenotypes segregated independently as an autosomal recessive trait and muscle biopsies showed non-specific myopathic changes. </p><p>Bashir et al. (1998) reported 8 Libyan Jewish families with LGMD2B. The 25 patients in these families showed onset of the disease between 12 and 39 years of age (mean 19.5 +/- 5 years). All had lower limb involvement on average 9 years before upper limb symptoms. Thirteen patients (52%) presented with distal lower limb muscle weakness, mostly of the gastrocnemius, with some complaining of transient calf enlargement. Intrafamilial variability was seen in the distribution of muscle weakness. Only 6 patients had lost the ability to walk independently; all of these were older than 35 years. Muscle biopsy showed chronic myopathic changes, and creatine kinase was elevated to 10-25 times normal in all affected individuals. </p><p>Passos-Bueno et al. (1999) studied 140 patients from 40 Brazilian families with one of 7 autosomal recessive limb-girdle muscular dystrophies (LGMDs). All LGMD2E (LGMDR4; 604286) and LGMD2F (LGMDR6; 601287) patients had a severe phenotype; considerable inter- and intrafamilial variability was observed in all other types of LGMD. Among the sarcoglycanopathies, serum CK levels were highest in the LGMD2D (LGMDR3; 608099) patients. Comparison between 40 LGMD2A (LGMDR1; 253600) patients and 52 LGMD2B patients showed that LGMD2A patients had a more severe course and higher frequency of calf hypertrophy (86% vs 13%), and that LGMD2B patients were more likely to be unable to walk on toes (70% vs 18%). </p><p>McNally et al. (2000) reported a large inbred pedigree of Yemenite Jewish descent with LGMD2B. These patients had slowly progressive muscular weakness of the lower limbs, both distal and proximal, beginning in the late second decade of life. Most developed upper limb involvement within 10 years. Three of 6 patients became wheelchair-bound. The patients had markedly elevated serum creatine kinase levels, and 2 of the 4 patients from whom muscle biopsies were available demonstrated an inflammatory process, a finding not previously described in LGMD. Mutation analysis demonstrated a homozygous mutation in the DYSF gene (609003.0008). </p><p>Illa et al. (2007) reported a 54-year-old woman who presented with a 3-year history of progressive fatigue while walking and difficulty climbing stairs. She had proximal muscle weakness of the lower limbs, increased serum creatine kinase and evidence of fatty infiltration of the lower limb muscles on MRI; mutation analysis showed that she was a heterozygous mutation carrier (D625Y; 603009.0013). Her brother had a full LGMD2B phenotype and was compound heterozygous the D625Y mutation and a second missense mutation (603009.0014) in the DYSF gene. Although immunostaining and Western blot analysis showed decreased dysferlin levels in the woman's muscle, RT-PCR showed normal levels of DYSF mRNA. The findings indicated that heterozygous DYSF mutation carriers may develop late-onset milder manifestations of the disorder. </p><p>Spuler et al. (2008) reported 2 sibs with LGMD2B caused by compound heterozygosity for mutations in the DYSF gene (G299R, 603009.0017; 603009.0020). Skeletal muscle biopsy showed amyloid fibrils on skeletal muscle biopsy. Amyloid was located in the sarcolemma of muscle cells as well as in blood vessel walls and interstitium. Spuler et al. (2008) postulated that the G299R mutation destabilized the protein structure of dysferlin and increased the propensity to form amyloid fibrils. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Paradas et al. (2009) reported 2 Spanish sibs, aged 2 and 5 years, with a congenital muscular dystrophy associated with a homozygous truncating mutation in the DYSF gene (2779delG; 603009.0021). Both showed hypotonia in infancy and difficulty walking, running, and climbing stairs. There was neck and pelvic muscle weakness. The older patient developed increased serum creatine kinase after age 3. There were no abnormalities in muscle bulk or facial or bulbar motor functions, and no skeletal abnormalities. MRI of the older patient at age 5 showed myoedema of the hamstrings and medial gastrocnemius; these changes were not observed in the other affected sib at age 2. Muscle biopsy showed mild dystrophic features and absent dysferlin expression. Paradas et al. (2009) emphasized the early onset of the disorder in these sibs, and suggested that they have a novel phenotype not previously associated with DYSF mutations, which may be due to genetic modifiers. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LGMD2B in the families reported by Bashir et al. (1998) was consistent with autosomal recessive inheritance. </p>
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<strong>Diagnosis</strong>
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<p>Cacciottolo et al. (2011) found that all of 55 patients with an undetermined LGMD clinical phenotype and 10 patients with a Miyoshi myopathy phenotype who had less than 20% dysferlin on skeletal muscle biopsy determined by Western blot analysis had pathogenic mutations in the DYSF gene. Exhaustive mutation analysis was performed, including genomic DNA sequencing, mRNA analysis, array CGH, and PCR. Sixty-five different mutations were identified throughout the gene and there were no mutation hotspots. Cacciottolo et al. (2011) noted the difficulty of sequencing the DYSF gene because of its larger size, and concluded that protein analysis showing a dysferlin reduction to 20% of normal values in skeletal muscle or in peripheral blood monocytes can be used to identify LGMD2B/MMD1 caused by DYSF mutations with 100% accuracy. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of 11 large Brazilian LGMD families of different racial backgrounds, Passos-Bueno et al. (1993) excluded 6 families from linkage to the LGMD2A locus on 15q. The findings indicated genetic heterogeneity in LGMD. </p><p>Bashir et al. (1994) mapped a form of LGMD (LGMD2B) to short tandem repeat polymorphisms D2S134 and D2S136 on chromosome 2p16-p13. The maximum lod score was 3.57 at zero recombination. The phenotype in the 2 families was similar, with onset in the pelvic girdle musculature in the late teens and usually relatively slow progression. </p><p>Passos-Bueno et al. (1995) confirmed the assignment to 2p in their Brazilian families with autosomal recessive LGMD. Haplotypes generated from 5 chromosome 2 markers from all of the known large families linked to 2p were reported together with the recombinants which showed the most likely location of the LGMD2B gene to be between D2S292 and D2S286, a region of approximately 4 cM located 9-cM distal to the linked markers originally described. </p><p>Bashir et al. (1996) assembled a 6-cM YAC contig spanning the LGMD2B locus and mapped 7 genes and 13 anonymous polymorphic microsatellites to it. Using haplotype analysis in the linked families, they narrowed the region of interest to an interval between D2S2113 and D2S2112/D2S145. By fluorescence in situ hybridization mapping of YACs positive for closely linked markers, they defined the distal and proximal boundaries of the LGMD2B gene to be 2p13.3 and 2p13.1, respectively. </p><p>In an aboriginal Canadian family that segregated both LGMD and Miyoshi myopathy, Weiler et al. (1996) found significant linkage to a locus spanning the region of LGMD2B on chromosome 2p (lod scores greater than 3.0). Although the family was highly consanguineous, 2 different core haplotypes were identified. Six patients, including the 2 with MM, were homozygous for a haplotype encompassing a 4-cM region spanned by D2S291-D2S2145-D2S286. The 3 other patients were compound heterozygous for the 4-cM haplotype and an additional haplotype. The findings indicated that there were 2 mutant alleles of independent origin in this kindred. However, since the haplotypes did not distinguish between the LGMD and MM phenotypes, Weiler et al. (1996) concluded that LGMD and MM in this aboriginal Canadian population are caused by the same mutation in LGMD2B and that additional factors, both genetic and nongenetic, must have contributed to the clinical phenotype. </p><p>By linkage analysis of a consanguineous family with both proximal and distal AR muscular dystrophy, Illarioshkin et al. (1996) found linkage to a 6-cM region on 2p between D2S292 and D2S286 (maximum lod score of 5.64 at D2S291). The authors also demonstrated homozygosity by descent at the critical chromosomal region in all patients, thus providing evidence for a common genetic basis of the 2 clinical phenotypes. Illarioshkin et al. (1997) reported extended haplotypes generated from 15 microsatellite markers, including 7 new markers, and thereby narrowed the locus on 2p13 to a region between D2S327 and D2S2111. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In affected members of 8 Libyan Jewish families with LGMD2B, Bashir et al. (1998) identified a homozygous mutation in the DYSF gene (603009.0005). In a ninth Libyan Jewish family, with a single affected member, the mutation was detected in single copy; one of the parents, who did not carry the mutation, was of Romanian origin. </p><p>In a large Canadian aboriginal kindred reported by Weiler et al. (1996), Weiler et al. (1999) found that both patients with LGMD2B and patients with MM were homozygous for a mutation in the dysferlin gene (P791R; 603009.0007). Four additional patients from 2 previously unpublished families also had this mutation and haplotype analysis suggested a common origin of the mutation in all patients. On Western blots of muscle, LGMD2B and MM patients showed a similar abundance of dysferlin staining of 15% and 11%, respectively. Normal tissue sections showed that dysferlin localizes to the sarcolemma, while tissue sections from MM and LGMD patients showed minimal staining which was indistinguishable between the 2 types. </p><p>In a large inbred Russian family with both LGMD2B and Miyoshi myopathy reported by Illarioshkin et al. (1996), Illarioshkin et al. (2000) identified a homozygous mutation in the DYSF gene (V67D; 603009.0009). </p><p>In affected members from 5 families from Sueca, Spain, with a dysferlinopathy, Vilchez et al. (2005) identified a homozygous mutation in the DYSF gene (R1905X; 603009.0012). Two families presented with Miyoshi myopathy, 2 presented with distal myopathy with anterior tibial onset, and 1 presented with LGMD2B. Although the same mutation resulted in different phenotypes, affected members of each family expressed the same phenotype. Haplotype analysis indicated a founder effect. Sueca was founded in 1245 by 17 settlers belonging to the Hospital Order, which received land from King James I of Aragon as a reward for help in reconquering Valencia from the Moors. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Guglieri et al. (2008) found that LGMD2B was the second most common form of LGMD after LGMD2A among 155 Italian probands. LGMD2B occurred in 18.7% of probands, whereas LGMD2A occurred in 28.4%. In LGMD2B, there was a correlation between mutation type, age at onset, and protein levels. Patients with truncating mutations in the DYSF gene had an earlier age at onset and an absence of protein on muscle biopsy, whereas patients with missense mutations had some residual protein. </p><p>In 6 unrelated Portuguese male patients with LGMD2B, Santos et al. (2010) identified a mutation in the DYSF gene (5492G-A; 603009.0022). A seventh Portuguese patient was compound heterozygous for the 5492G-A mutation and another pathogenic DYSF mutation. The 5492G-A mutation was not found in 240 control alleles, and haplotype analysis supported a founder effect for the mutation. All 7 patients originated or resided in a confined region of the northern interior part of Portugal. Although most patients had a limb-girdle muscular dystrophy, there was some phenotypic variation: 1 patient presented with distal muscle weakness in the lower limbs, and another had cardiac arrhythmia. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Cacciottolo, M., Numitone, G., Aurino, S., Caserta, I. R., Fanin, M., Politano, L., Minetti, C., Ricci, E., Piluso, G., Angelini, C., Nigro, V.
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Guglieri, M., Magri, F., D'Angelo, M. G., Prelle, A., Morandi, L., Rodolico, C., Cagliani, R., Mora, M., Fortunato, F., Bordoni, A., Del Bo, R., Ghezzi, S., and 16 others.
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Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Greenberg, C. R., Nylen, E., Sukhorukov, V. S., Poleshchuk, V. V., Markova, E. D., Wrogemann, K.
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Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Tanaka, H., Poleshchuk, V. V., Markova, E. D., Tsuji, S.
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Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Tanaka, H., Vereshchagin, N. V., Markova, E. D., Poleshchuk, V. V., Lozhnikova, S. M., Sukhorukov, V. S., Limborska, S. A., Slominsky, P. A., Bulayeva, K. B., Tsuji, S.
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McNally, E. M., Ly, C. T., Rosenmann, H., Rosenbaum, S. M., Jiang, W., Anderson, L. V. B., Soffer, D., Argov, Z.
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<strong>Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.</strong>
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000410)91:4<305::aid-ajmg12>3.0.co;2-s]
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<p class="mim-text-font">
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Paradas, C., Gonzalez-Quereda, L., De Luna, N., Gallardo, E., Garcia-Consuegra, I., Gomez, H., Cabello, A., Illa, I., Gallano, P.
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<strong>A new phenotype of dysferlinopathy with congenital onset.</strong>
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[Full Text: https://doi.org/10.1016/j.nmd.2008.09.015]
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Passos-Bueno, M. R., Bashir, R., Moreira, E. S., Vainzof, M., Marie, S. K., Vasquez, L., Iughetti, P., Bakker, E., Keers, S., Stephenson, A., Strachan, T., Mahneh, I., Weissenbach, J., Bushby, K., Zatz, M.
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<strong>Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.</strong>
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Genomics 27: 192-195, 1995.
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[PubMed: 7665169]
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Passos-Bueno, M. R., Richard, I., Vainzof, M., Fougerousse, F., Weissenbach, J., Broux, O., Cohen, D., Akiyama, J., Marie, S. K. N., Carvalho, A. A., Guilherme, L., Kalil, J., Tsanaclis, A. M. T., Zatz, M., Beckmann, J. S.
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<strong>Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.</strong>
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J. Med. Genet. 30: 385-387, 1993.
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[Full Text: https://doi.org/10.1136/jmg.30.5.385]
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<p class="mim-text-font">
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Passos-Bueno, M. R., Vainzof, M., Moreira, E. S., Zatz, M.
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<strong>Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.</strong>
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Am. J. Med. Genet. 82: 392-398, 1999.
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[PubMed: 10069710]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0]
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</p>
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<p class="mim-text-font">
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Santos, R., Oliveira, J., Vieira, E., Coelho, T., Carneiro, A. L., Evangelista, T., Dias, C., Fortuna, A., Geraldo, A., Negrao, L., Guimaraes, A., Bronze-da-Rocha, E.
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<strong>Private dysferlin exon skipping mutation (c.5492G-A) with a founder effect reveals further alternative splicing involving exons 49-51.</strong>
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J. Hum. Genet. 55: 546-549, 2010.
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[PubMed: 20535123]
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[Full Text: https://doi.org/10.1038/jhg.2010.60]
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<p class="mim-text-font">
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Spuler, S., Carl, M., Zabojszcza, J., Straub, V., Bushby, K., Moore, S. A., Bahring, S., Wenzel, K., Vinkemeier, U., Rocken, C.
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<strong>Dysferlin-deficient muscular dystrophy features amyloidosis.</strong>
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Ann. Neurol. 63: 323-328, 2008.
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[PubMed: 18306167]
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[Full Text: https://doi.org/10.1002/ana.21309]
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</p>
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<li>
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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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vilchez, J. J., Gallano, P., Gallardo, E., Lasa, A., Rojas-Garcia, R., Freixas, A., De Luna, N., Calafell, F., Sevilla, T., Mayordomo, F., Baiget, M., Illa, I.
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<strong>Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.</strong>
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Arch. Neurol. 62: 1256-1259, 2005.
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[PubMed: 16087766]
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[Full Text: https://doi.org/10.1001/archneur.62.8.1256]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weiler, T., Bashir, R., Anderson, L. V. B., Davison, K., Moss, J. A., Britton, S., Nylen, E., Keers, S., Vafiadaki, E., Greenberg, C. R., Bushby, K. M. D., Wrogemann, K.
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|
<strong>Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).</strong>
|
|
Hum. Molec. Genet. 8: 871-877, 1999.
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[PubMed: 10196377]
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[Full Text: https://doi.org/10.1093/hmg/8.5.871]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weiler, T., Greenberg, C. R., Nylen, E., Halliday, W., Morgan, K., Eggertson, D., Wrogemann, K.
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<strong>Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.</strong>
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Am. J. Hum. Genet. 59: 872-878, 1996.
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[PubMed: 8808603]
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Cassandra L. Kniffin - updated : 9/22/2011<br>Cassandra L. Kniffin - updated : 11/1/2010<br>Cassandra L. Kniffin - updated : 11/4/2009<br>Cassandra L. Kniffin - updated : 3/24/2009<br>Cassandra L. Kniffin - updated : 3/10/2008<br>Cassandra L. Kniffin - updated : 12/5/2007<br>Cassandra L. Kniffin - reorganized : 12/4/2007<br>Victor A. McKusick - updated : 10/12/1999<br>Ada Hamosh - updated : 4/9/1999<br>Victor A. McKusick - updated : 8/27/1998<br>Victor A. McKusick - updated : 3/16/1998
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Victor A. McKusick : 7/9/1993
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alopez : 09/13/2024<br>carol : 09/25/2018<br>carol : 06/21/2016<br>carol : 9/17/2013<br>carol : 9/29/2011<br>ckniffin : 9/22/2011<br>wwang : 12/9/2010<br>ckniffin : 11/1/2010<br>terry : 12/17/2009<br>wwang : 11/18/2009<br>ckniffin : 11/4/2009<br>wwang : 4/1/2009<br>ckniffin : 3/24/2009<br>wwang : 3/12/2008<br>ckniffin : 3/10/2008<br>wwang : 12/11/2007<br>ckniffin : 12/5/2007<br>ckniffin : 12/4/2007<br>terry : 11/11/2003<br>ckniffin : 9/23/2003<br>mcapotos : 9/22/2000<br>mcapotos : 9/15/2000<br>alopez : 11/8/1999<br>carol : 10/12/1999<br>alopez : 4/9/1999<br>alopez : 8/31/1998<br>terry : 8/27/1998<br>dholmes : 4/1/1998<br>alopez : 3/16/1998<br>terry : 2/25/1998<br>mark : 7/16/1997<br>terry : 1/8/1997<br>mark : 10/25/1996<br>terry : 10/16/1996<br>carol : 6/22/1996<br>mark : 4/22/1996<br>terry : 4/10/1996<br>mark : 10/31/1995<br>carol : 4/13/1994<br>mimadm : 3/11/1994<br>carol : 7/9/1993
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