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Entry
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- #608099 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3
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- OMIM
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<p>
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<span class="h4">#608099</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/608099"><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="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#geneTherapy">Gene Therapy</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<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 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=678&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4239" 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=608099[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=62" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110278" 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/608099" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002305/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110278" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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> 715340002<br />
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<strong>ICD10CM:</strong> G71.0341<br />
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<strong>ORPHA:</strong> 62<br />
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<strong>DO:</strong> 0110278<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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608099
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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 3; LGMDR3
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D<br />
|
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DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2; DMDA2<br />
|
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ADHALINOPATHY, PRIMARY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/17/733?start=-3&limit=10&highlight=733">
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17q21.33
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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 3
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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/608099"> 608099 </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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SGCA
|
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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/600119"> 600119 </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/608099" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
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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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|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608099" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608099" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</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>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<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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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57048009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57048009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55033002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55033002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009917</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842558</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Limb-girdle muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858127</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003325</a>]</span><br /> -
|
|
Limb-girdle muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003797" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003797</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003797" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003797</a>]</span><br /> -
|
|
Unsteady gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22631008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22631008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span><br /> -
|
|
Calf muscle hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843057</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008981" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008981</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008981" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008981</a>]</span><br /> -
|
|
Necrosis and degeneration seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552046&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552046</a>]</span><br /> -
|
|
Adhalin deficiency seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552047</a>]</span><br /> -
|
|
Decreased immunostaining for alpha-sarcoglycan <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842557</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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
|
|
</div>
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Loss of reflexes due to myopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842551</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in childhood (3 to 10 years)<br /> -
|
|
Loss of independent walking by teenage years (in some)<br /> -
|
|
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the alpha-sarcoglycan gene (SGCA, <a href="/entry/600119#0001">600119.0001</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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|
|
<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>
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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/615618"> 615618 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/214?start=-3&limit=10&highlight=214"> 4q12 </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/604286"> Muscular dystrophy, limb-girdle, autosomal recessive 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604286"> 604286 </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/600900"> SGCB </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/600900"> 600900 </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/4/705?start=-3&limit=10&highlight=705"> 4q35.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615356"> Muscular dystrophy, limb-girdle, autosomal recessive 18 </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/615356"> 615356 </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/614138"> TRAPPC11 </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/614138"> 614138 </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/5/259?start=-3&limit=10&highlight=259"> 5q13.3 </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/620375"> Muscular dystrophy, limb-girdle, autosomal recessive 28 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</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/620375"> 620375 </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/142910"> HMGCR </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/142910"> 142910 </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/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">
|
|
<a href="/entry/601287"> Muscular dystrophy, limb-girdle, autosomal recessive 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601287"> 601287 </a>
|
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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>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/743?start=-3&limit=10&highlight=743"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616812"> Muscular dystrophy, limb-girdle, autosomal recessive 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616812"> 616812 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604577"> BVES </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/604577"> 604577 </a>
|
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</span>
|
|
</td>
|
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/744?start=-3&limit=10&highlight=744"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618848"> Muscular dystrophy, limb-girdle, autosomal recessive 26 </a>
|
|
</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/618848"> 618848 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605824"> POPDC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605824"> 605824 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
</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>
|
|
</span>
|
|
</td>
|
|
</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>
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<a href="/entry/608662"> ANO5 </a>
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<a href="/entry/608662"> 608662 </a>
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<a href="/geneMap/13/30?start=-3&limit=10&highlight=30"> 13q12.12 </a>
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<span class="mim-font">
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<a href="/entry/253700"> Muscular dystrophy, limb-girdle, autosomal recessive 5 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/253700"> 253700 </a>
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<a href="/entry/608896"> SGCG </a>
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<span class="mim-font">
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<a href="/entry/608896"> 608896 </a>
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<a href="/geneMap/14/414?start=-3&limit=10&highlight=414"> 14q24.3 </a>
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<span class="mim-font">
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<a href="/entry/613158"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/613158"> 613158 </a>
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<span class="mim-font">
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<a href="/entry/607439"> POMT2 </a>
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<span class="mim-font">
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<a href="/entry/607439"> 607439 </a>
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<a href="/geneMap/14/600?start=-3&limit=10&highlight=600"> 14q32.33 </a>
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<span class="mim-font">
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<a href="/entry/619566"> Muscular dystrophy, limb-girdle, autosomal recessive 27 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/619566"> 619566 </a>
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<a href="/entry/602570"> JAG2 </a>
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<span class="mim-font">
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<a href="/entry/602570"> 602570 </a>
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<a href="/geneMap/15/133?start=-3&limit=10&highlight=133"> 15q15.1 </a>
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<span class="mim-font">
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<a href="/entry/253600"> Muscular dystrophy, limb-girdle, autosomal recessive 1 </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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 class="mim-font">
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<a href="/entry/253600"> 253600 </a>
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<span class="mim-font">
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<a href="/entry/114240"> CAPN3 </a>
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<span class="mim-font">
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<a href="/entry/114240"> 114240 </a>
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<span class="mim-font">
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<a href="/geneMap/15/400?start=-3&limit=10&highlight=400"> 15q24.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620793"> Muscular dystrophy, limb-girdle, autosomal recessive 29 </a>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/620793"> 620793 </a>
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<span class="mim-font">
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<a href="/entry/607902"> SNUPN </a>
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<span class="mim-font">
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<a href="/entry/607902"> 607902 </a>
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<span class="mim-font">
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<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </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/601954"> Muscular dystrophy, limb-girdle, autosomal recessive 7 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/601954"> 601954 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/604488"> TCAP </a>
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</span>
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<span class="mim-font">
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<a href="/entry/604488"> 604488 </a>
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<span class="mim-font">
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<a href="/geneMap/17/733?start=-3&limit=10&highlight=733"> 17q21.33 </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/608099"> Muscular dystrophy, limb-girdle, autosomal recessive 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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<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 class="mim-font">
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<a href="/entry/608099"> 608099 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/600119"> SGCA </a>
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<td>
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<span class="mim-font">
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<a href="/entry/600119"> 600119 </a>
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<a href="/geneMap/19/859?start=-3&limit=10&highlight=859"> 19q13.32 </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/607155"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 </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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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/607155"> 607155 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/606596"> FKRP </a>
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<span class="mim-font">
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<a href="/entry/606596"> 606596 </a>
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<span class="mim-font">
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<a href="/geneMap/21/174?start=-3&limit=10&highlight=174"> 21q22.3 </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/254090"> Ullrich congenital muscular dystrophy 1A </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/254090"> 254090 </a>
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<span class="mim-font">
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<a href="/entry/120220"> COL6A1 </a>
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<span class="mim-font">
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<a href="/entry/120220"> 120220 </a>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) is caused by homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; <a href="/entry/600119">600119</a>) on chromosome 17q21.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by <a href="#3" class="mim-tip-reference" title="Babameto-Laku, A., Tabaku, M., Tashko, V., Cikuli, M., Mokini, V. <strong>The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.</strong> Genet. Counsel. 22: 377-383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22303798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22303798</a>]" pmid="22303798">Babameto-Laku et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22303798" 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>For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (<a href="/entry/253600">253600</a>).</p>
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<br />
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<a id="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p>At the 229th ENMC international workshop, <a href="#21" 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, LGMD2D was renamed LGMDR3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<p><a href="#19" class="mim-tip-reference" title="Romero, N. B., Tome, F. M. S., Leturcq, F., El Kerch, F., Azibi, K., Bachner, L., Anderson, R. D., Roberds, S. L., Campbell, K. P., Fardeau, M., Kaplan, J.-C. <strong>Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.</strong> C. R. Acad. Sci. III 317: 70-76, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987694</a>]" pmid="7987694">Romero et al. (1994)</a> reported a French family with a progressive form of muscular dystrophy that was clinically milder than severe autosomal recessive muscular dystrophy (SCARMD; <a href="/entry/253700">253700</a>). Four sibs had mild to overt symptoms, including proximal muscle weakness beginning at about age 10 years, calf hypertrophy, and elevated serum creatine kinase. Muscle biopsies showed variable degrees of necrosis and regeneration with little fibrosis. In all 4 cases, the 50-kD dystrophin-associated glycoprotein adhalin was completely absent in muscle sections, whereas dystrophin and other members of the dystrophin-associated protein complex were normal, except for the 35-kD dystrophin-associated glycoprotein gamma-sarcoglycan (SGCG; <a href="/entry/608896">608896</a>), which was slightly reduced. Linkage analysis excluded the SCARMD locus on chromosome 13q, indicating a genetically distinct disorder. <a href="#19" class="mim-tip-reference" title="Romero, N. B., Tome, F. M. S., Leturcq, F., El Kerch, F., Azibi, K., Bachner, L., Anderson, R. D., Roberds, S. L., Campbell, K. P., Fardeau, M., Kaplan, J.-C. <strong>Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.</strong> C. R. Acad. Sci. III 317: 70-76, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987694</a>]" pmid="7987694">Romero et al. (1994)</a> stated that there are 2 kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin and one in which absence of adhalin is secondary to a separate gene defect on chromosome 13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987694" 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="#5" class="mim-tip-reference" title="Fadic, R., Sunada, Y., Waclawik, A. J., Buck, S., Lewandoski, P. J., Campbell, K. P., Lotz, B. P. <strong>Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy.</strong> New Eng. J. Med. 334: 362-366, 1996. Note: Erratum: New Eng. J. Med. 334: 871 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8538707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8538707</a>] [<a href="https://doi.org/10.1056/NEJM199602083340604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8538707">Fadic et al. (1996)</a> demonstrated adhalin deficiency in a 13-year-old boy who had previously been given a diagnosis of Becker muscular dystrophy (<a href="/entry/300376">300376</a>) and was referred for dilated cardiomyopathy and congestive heart failure. He had been asymptomatic until 9 years of age when proximal muscle weakness developed. Examination at that time showed flexion contracture at the ankles, hypertrophy of the calf muscle, and Gowers sign. The serum creatine kinase level was very high. There was no family history of consanguinity or neuromuscular disease. Both his sister and his mother had normal serum creatine kinase levels. His congestive heart failure was refractory to diuretic therapy and to inotropic therapy. He required a left ventricular assist device for circulatory support for 6 weeks and then underwent successful heart transplantation. Cardiac abnormalities had been described in patients with adhalin deficiency or muscular dystrophy but expression of dystrophin-associated proteins, including adhalin, in cardiac muscle had not been determined. <a href="#5" class="mim-tip-reference" title="Fadic, R., Sunada, Y., Waclawik, A. J., Buck, S., Lewandoski, P. J., Campbell, K. P., Lotz, B. P. <strong>Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy.</strong> New Eng. J. Med. 334: 362-366, 1996. Note: Erratum: New Eng. J. Med. 334: 871 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8538707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8538707</a>] [<a href="https://doi.org/10.1056/NEJM199602083340604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8538707">Fadic et al. (1996)</a> found normal immunostaining in both skeletal and cardiac muscle with antibodies directed against the 3 portions of the dystrophin molecule. On the other hand, immunostaining of adhalin was drastically reduced in skeletal muscle and undetectable by immunofluorescence in cardiac muscle. The disorder was thought to be recessive in this patient. <a href="#10" class="mim-tip-reference" title="McNally, E. M., Bonnemann, C. G., Kunkel, L. M., Bhattacharya, S. K. <strong>Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. (Letter)</strong> New Eng. J. Med. 334: 1610-1611, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8628353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8628353</a>] [<a href="https://doi.org/10.1056/NEJM199606133342417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8628353">McNally et al. (1996)</a> commented that mutations in several genes can cause adhalin deficiency and that the patient reported by <a href="#5" class="mim-tip-reference" title="Fadic, R., Sunada, Y., Waclawik, A. J., Buck, S., Lewandoski, P. J., Campbell, K. P., Lotz, B. P. <strong>Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy.</strong> New Eng. J. Med. 334: 362-366, 1996. Note: Erratum: New Eng. J. Med. 334: 871 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8538707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8538707</a>] [<a href="https://doi.org/10.1056/NEJM199602083340604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8538707">Fadic et al. (1996)</a> did not necessarily have a mutation in the SGCA gene. <a href="#10" class="mim-tip-reference" title="McNally, E. M., Bonnemann, C. G., Kunkel, L. M., Bhattacharya, S. K. <strong>Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. (Letter)</strong> New Eng. J. Med. 334: 1610-1611, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8628353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8628353</a>] [<a href="https://doi.org/10.1056/NEJM199606133342417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8628353">McNally et al. (1996)</a> noted that mutation in any of 3 proteins in the 'sarcoglycan complex,' alpha-, beta-, or gamma-sarcoglycan, can cause muscular dystrophy as well as a decrease in immunostaining for all 3 sarcoglycan components. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8628353+8538707" 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="Angelini, C., Fanin, M., Menegazzo, E., Freda, M. P., Duggan, D. J., Hoffman, E. P. <strong>Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.</strong> Muscle Nerve 21: 769-775, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585331</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199806)21:6<769::aid-mus9>3.0.co;2-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585331">Angelini et al. (1998)</a> described 2 sibs with a homozygous mutation in the alpha-sarcoglycan gene (<a href="/entry/600119#0005">600119.0005</a>) who presented strikingly different clinical phenotypes. The brother was asymptomatic and the sister had mild limb-girdle muscular dystrophy that was steroid responsive. Immunohistochemistry for alpha-sarcoglycan showed reduced intensity in the sister and findings similar to normal in the brother. Unknown epigenetic or environmental factors appeared to be important in determining protein and clinical phenotype expression. The sister, 40 years old at the time of report, had presented at the age of 10 to 12 years with mild thoracic scoliosis. At the age of 20 years she presented with waddling gait. Proximal weakness in the lower limbs was noted at 28 years, together with difficulty getting up from the floor or rising from a low chair. Weakness in the upper limbs was noted at the age of 30 years, with difficulty lifting objects over her head. The 35-year-old brother had increased creatine kinase levels but a negative neuromuscular examination, except for mild scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585331" 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 (LGMD2A-LGMD2G). Among the sarcoglycanopathies, serum creatine kinase levels were highest in the LGMD2D patients. <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="#3" class="mim-tip-reference" title="Babameto-Laku, A., Tabaku, M., Tashko, V., Cikuli, M., Mokini, V. <strong>The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.</strong> Genet. Counsel. 22: 377-383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22303798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22303798</a>]" pmid="22303798">Babameto-Laku et al. (2011)</a> reported 2 Albanian sibs, born of consanguineous parents, with LGMD2D. The 7-year-old sister showed difficulty climbing stairs and getting up at age 3 years. This proximal muscle weakness progressed, with frequent falls, waddling gait, toe-walking, and difficulty raising the arms above the head. She also had calf pseudohypertrophy, Achilles tendon contractures, mild scapular winging, and hyperlordosis. Her younger brother started to manifest similar clinical symptoms of proximal muscle weakness between 2 and 3 years of age. Both patients had increased serum creatine kinase, and muscular biopsy showed dystrophic changes with decreased staining for alpha- and gamma-sarcoglycan (SGCG; <a href="/entry/608896">608896</a>). The phenotype in both patients was clinically severe enough to suggest Duchenne muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22303798" 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 LGMDR3 in the family reported by <a href="#19" class="mim-tip-reference" title="Romero, N. B., Tome, F. M. S., Leturcq, F., El Kerch, F., Azibi, K., Bachner, L., Anderson, R. D., Roberds, S. L., Campbell, K. P., Fardeau, M., Kaplan, J.-C. <strong>Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.</strong> C. R. Acad. Sci. III 317: 70-76, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987694</a>]" pmid="7987694">Romero et al. (1994)</a> and <a href="#17" class="mim-tip-reference" title="Roberds, S. L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R. D., Lim, L. E., Lee, J. C., Tome, F. M. S., Romero, N. B., Fardeau, M., Beckmann, J. S., Kaplan, J.-C., Campbell, K. P. <strong>Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.</strong> Cell 78: 625-633, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8069911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8069911</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90527-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8069911">Roberds et al. (1994)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8069911+7987694" 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="#14" class="mim-tip-reference" title="Passos-Bueno, M. R., Oliveira, J. R., Bakker, E., Anderson, R. D., Marie, S. K., Vainzof, M., Roberds, S. L., Campbell, K. P., Zatz, M. <strong>Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.</strong> Hum. Molec. Genet. 2: 1945-1947, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8281158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8281158</a>] [<a href="https://doi.org/10.1093/hmg/2.11.1945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8281158">Passos-Bueno et al. (1993)</a> found 4 Brazilian families with Duchenne-like muscular dystrophy who were not linked to 13q, indicating genetic heterogeneity for the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8281158" 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 French family with autosomal recessive limb-girdle muscular dystrophy in which <a href="#19" class="mim-tip-reference" title="Romero, N. B., Tome, F. M. S., Leturcq, F., El Kerch, F., Azibi, K., Bachner, L., Anderson, R. D., Roberds, S. L., Campbell, K. P., Fardeau, M., Kaplan, J.-C. <strong>Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.</strong> C. R. Acad. Sci. III 317: 70-76, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987694</a>]" pmid="7987694">Romero et al. (1994)</a> excluded linkage to markers on 13q, <a href="#17" class="mim-tip-reference" title="Roberds, S. L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R. D., Lim, L. E., Lee, J. C., Tome, F. M. S., Romero, N. B., Fardeau, M., Beckmann, J. S., Kaplan, J.-C., Campbell, K. P. <strong>Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.</strong> Cell 78: 625-633, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8069911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8069911</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90527-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8069911">Roberds et al. (1994)</a> found perfect cosegregation between the disease and 1 allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene on chromosome 17q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8069911+7987694" 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., Moreira, E. S., Vainzof, M., Chamberlain, J., Marie, S. K., Pereira, L., Akiyama, J., Roberds, S. L., Campbell, K. P., Zatz, M. <strong>A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 4: 1163-1167, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528203</a>] [<a href="https://doi.org/10.1093/hmg/4.7.1163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8528203">Passos Bueno et al. (1995)</a> performed linkage analysis with chromosome 17q markers in 3 autosomal recessive limb-girdle muscular dystrophy families and in 4 Duchenne-like muscular dystrophy families, all with adhalin deficiency and unlinked to any of the 3 chromosome sites where forms of autosomal recessive limb-girdle muscular dystrophy had been mapped: 15q (LGMDR1; <a href="/entry/253600">253600</a>); 2p (LGMDR2; <a href="/entry/253601">253601</a>), and 13q (LGMDR5; <a href="/entry/253700">253700</a>). Linkage to 17q was observed only among 3 families with a mild phenotype. <a href="#13" class="mim-tip-reference" title="Passos Bueno, M. R., Moreira, E. S., Vainzof, M., Chamberlain, J., Marie, S. K., Pereira, L., Akiyama, J., Roberds, S. L., Campbell, K. P., Zatz, M. <strong>A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 4: 1163-1167, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528203</a>] [<a href="https://doi.org/10.1093/hmg/4.7.1163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8528203">Passos Bueno et al. (1995)</a> referred to the 17q-linked muscular dystrophy as LGMD2D. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8528203" 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 French family with mild autosomal recessive limb-girdle muscular dystrophy reported by <a href="#19" class="mim-tip-reference" title="Romero, N. B., Tome, F. M. S., Leturcq, F., El Kerch, F., Azibi, K., Bachner, L., Anderson, R. D., Roberds, S. L., Campbell, K. P., Fardeau, M., Kaplan, J.-C. <strong>Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.</strong> C. R. Acad. Sci. III 317: 70-76, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987694</a>]" pmid="7987694">Romero et al. (1994)</a>, <a href="#17" class="mim-tip-reference" title="Roberds, S. L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R. D., Lim, L. E., Lee, J. C., Tome, F. M. S., Romero, N. B., Fardeau, M., Beckmann, J. S., Kaplan, J.-C., Campbell, K. P. <strong>Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.</strong> Cell 78: 625-633, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8069911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8069911</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90527-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8069911">Roberds et al. (1994)</a> identified missense mutations in the adhalin gene (see, e.g., <a href="/entry/600119#0001">600119.0001</a>-<a href="/entry/600119#0002">600119.0002</a>). The family was nonconsanguineous and the affected members were compound heterozygotes, with one mutation coming from each parent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8069911+7987694" 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="#16" class="mim-tip-reference" title="Piccolo, F., Roberds, S. L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrie, A., Recan, D., Chaouch, M., Reghis, A., El Kerch, F., Sefiani, A., Voit, T., Merlini, L., Collin, H., Eymard, B., Beckmann, J. S., Romero, N. B., Tome, F. M. S., Fardeau, M., Campbell, K. P., Kaplan, J.-C. <strong>Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.</strong> Nature Genet. 10: 243-245, 1995. Note: Erratum: Nature Genet. 11: 104 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7663524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7663524</a>] [<a href="https://doi.org/10.1038/ng0695-243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7663524">Piccolo et al. (1995)</a> described several additional mutations (null and missense) in the adhalin gene (see, e.g., <a href="/entry/600119#0003">600119.0003</a>) in 10 affected families from Europe and North Africa. Disease severity varied in age of onset and rate of progression, and patients with null mutations were the most severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7663524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected Brazilian families with a mild phenotype showing linkage to 17q, <a href="#13" class="mim-tip-reference" title="Passos Bueno, M. R., Moreira, E. S., Vainzof, M., Chamberlain, J., Marie, S. K., Pereira, L., Akiyama, J., Roberds, S. L., Campbell, K. P., Zatz, M. <strong>A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 4: 1163-1167, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528203</a>] [<a href="https://doi.org/10.1093/hmg/4.7.1163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8528203">Passos Bueno et al. (1995)</a> identified the same missense mutation in the adhalin gene (<a href="/entry/600119#0003">600119.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8528203" 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="#22" class="mim-tip-reference" title="Trabelsi, M., Kavian, N., Daoud, F., Commere, V., Deburgrave, N., Beugnet, C., Llense, S., Barbot, J. C., Vasson, A., Kaplan, J. C., Leturcq, F., Chelly, J. <strong>Revised spectrum of mutations in sarcoglycanopathies.</strong> Europ. J. Hum. Genet. 16: 793-803, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285821</a>] [<a href="https://doi.org/10.1038/ejhg.2008.9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18285821">Trabelsi et al. (2008)</a> identified biallelic mutations in sarcoglycan genes in 46 (67%) of 69 patients with a clinical diagnosis of autosomal recessive LGMD. Twenty-six (56.5%) patients had SGCA mutations, 8 (17.3%) had SGCB (<a href="/entry/600900">600900</a>) mutations, and 12 (26%) had SGCG mutations. A total of 23 different mutations, including 10 novel mutations, were identified in SGCA, with a relatively high frequency of mutations in exon 3 (13 of 26, 50%) and exon 5 (6 of 26, 23%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Albanian sibs, born of consanguineous parents, with LGMD2D, <a href="#3" class="mim-tip-reference" title="Babameto-Laku, A., Tabaku, M., Tashko, V., Cikuli, M., Mokini, V. <strong>The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.</strong> Genet. Counsel. 22: 377-383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22303798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22303798</a>]" pmid="22303798">Babameto-Laku et al. (2011)</a> identified a homozygous mutation in the SGCA gene (R192X; <a href="/entry/600119#0007">600119.0007</a>). Each unaffected parent was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22303798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Duggan, D. J., Gorospe, J. R., Fanin, M., Hoffman, E. P., Angelini, C. <strong>Mutations in the sarcoglycan genes in patients with myopathy.</strong> New Eng. J. Med. 336: 618-624, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9032047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9032047</a>] [<a href="https://doi.org/10.1056/NEJM199702273360904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9032047">Duggan et al. (1997)</a> undertook to determine the frequency of sarcoglycan gene mutations and the relationship between the clinical features and genotype in 556 patients with myopathy but normal dystrophin genes. Antibody against alpha-sarcoglycan was used to stain muscle-biopsy specimens from these patients. Those whose biopsy specimens showed deficiency of alpha-sarcoglycan on immunostaining were studied for mutations of the alpha-, beta-, and gamma-sarcoglycan genes with reverse transcription of muscle RNA, analysis involving single-strand conformation polymorphisms, and sequencing. Levels of alpha-sarcoglycan were found to be decreased on immunostaining of muscle biopsy specimens from 54 of the 556 patients (10%); in 25 of these patients no alpha-sarcoglycan was detected. Screening for sarcoglycan gene mutations in 50 of the 54 patients revealed mutations in 29 patients (58%): 17 had mutations in the SGCA gene, 8 in the SGCB gene, and 4 in the SGCG gene. The prevalence of sarcoglycan gene mutations was highest among patients with severe (Duchenne-like) muscular dystrophy that began in childhood (18 of 83 patients, or 22%); the prevalence among patients with proximal (limb-girdle) muscular dystrophy with a later onset was 6% (11 of 180 patients). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9032047" 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="Alonso-Perez, J., Gonzalez-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., and 48 others. <strong>New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.</strong> Brain 143: 2696-2708, 2020. Note: Erratum: Brain 146: e9, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32875335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32875335</a>] [<a href="https://doi.org/10.1093/brain/awaa228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32875335">Alonso-Perez et al. (2020)</a> reviewed genotype-phenotype correlations in 396 patients with a sarcoglycanopathy from 13 European countries, of whom 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4 (<a href="/entry/604286">604286</a>), 157 of LGMDR5 (<a href="/entry/253700">253700</a>), and 7 of LGMDR6 (<a href="/entry/608099">608099</a>). Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Onset of symptoms before 10 years of age and residual protein expression lower than 30% were identified as independent risk factors for losing ambulation before 18 years of age in LGMDR3, LGMDR4, and LGMDR5 patients. Sixty percent of LGMDR3 patients carried one of the following mutations in homozygous or heterozygous state: c.229C-T (<a href="/entry/600119#0003">600119.0003</a>), c.850C-T (<a href="/entry/600119#0005">600119.0005</a>), or c.739G-A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32875335" 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 double-blind randomized control trial of 3 nonambulatory patients with genetically confirmed LGMD2D, <a href="#12" class="mim-tip-reference" title="Mendell, J. R., Rodino-Klapac, L. R., Rosales-Quintero, X., Kota, J., Coley, B. D., Galloway, G., Craenen, J. M., Lewis, S., Malik, V., Shilling, C., Byrne, B. J., Conlon, T., Campbell, K. J., Bremer, W. G., Viollet, L., Walker, C. M., Sahenk, Z., Clark, K. R. <strong>Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.</strong> Ann. Neurol. 66: 290-297, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798725</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19798725[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/10.1002/ana.21732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19798725">Mendell et al. (2009)</a> found that replacement of the SGCA gene using an adeno-associated virus type 1 (AAV1) vector resulted in 4- to 5-fold increased SGCA expression and restoration of the full sarcoglycan complex in a small foot muscle of the treated side compared to the untreated side in each patient. Examination after 3 months in 1 patient showed increased muscle fiber size in the transduced muscle. There were no adverse side effects. The study used the muscle-specific creatine kinase promoter to improve the safety profile of gene transfer targeting muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798725" 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="Mendell, J. R., Rodino-Klapac, L. R., Rosales, X. Q., Coley, B. D., Galloway, G., Lewis, S., Malik, V., Shilling, C., Byrne, B. J., Conlon, T., Campbell, K. J., Bremer, W. G., Taylor, L. E., Flanigan, K. M., Gastier-Foster, J. M., Astbury, C., Kota, J., Sahenk, Z., Walker, C. M., Clark, K. R. <strong>Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.</strong> Ann. Neurol. 68: 629-638, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21031578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21031578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21031578[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/10.1002/ana.22251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21031578">Mendell et al. (2010)</a> reported 3 additional patients treated with SGCA gene replacement therapy similar to their previous report (<a href="#12" class="mim-tip-reference" title="Mendell, J. R., Rodino-Klapac, L. R., Rosales-Quintero, X., Kota, J., Coley, B. D., Galloway, G., Craenen, J. M., Lewis, S., Malik, V., Shilling, C., Byrne, B. J., Conlon, T., Campbell, K. J., Bremer, W. G., Viollet, L., Walker, C. M., Sahenk, Z., Clark, K. R. <strong>Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.</strong> Ann. Neurol. 66: 290-297, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798725</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19798725[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/10.1002/ana.21732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19798725">Mendell et al., 2009</a>). At 6 months after gene therapy, 2 of the 3 patients showed sustained increased SGCA expression reaching wildtype levels, but only 1 had clear evidence of increased muscle fiber diameter. The third patient showed no increased SGCA gene expression after 6 months and also had early humoral and T-cell responses to the AAV1 capsid, suggestive of an amnestic inflammatory response. Combined with the earlier study, the findings provided an overall favorable response to SGCA gene therapy in patients with LGMD2D. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21031578+19798725" 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="#7" class="mim-tip-reference" title="Hayashi, Y. K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K. <strong>The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin.</strong> Neurology 45: 551-554, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7898714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7898714</a>] [<a href="https://doi.org/10.1212/wnl.45.3.551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7898714">Hayashi et al. (1995)</a> performed an immunocytochemical survey of muscle biopsies from 243 Japanese muscular dystrophy patients over 2.5 years. They identified 5 unrelated Japanese patients (3 females and 2 males with no family history) as having adhalin deficiency. There was extremely faint but positive staining of the sarcolemma similar to that described in the 13q-linked congenital muscular dystrophy prevalent in North Africa. From these data they predicted the gene frequency for this deficiency in Japan to be between 0.1 and 0.2%, with a prevalence of the deficiency in the Japanese population to be about 1 x 10(-6). In their series, <a href="#7" class="mim-tip-reference" title="Hayashi, Y. K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K. <strong>The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin.</strong> Neurology 45: 551-554, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7898714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7898714</a>] [<a href="https://doi.org/10.1212/wnl.45.3.551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7898714">Hayashi et al. (1995)</a> found this deficiency to account for only 4% of patients with DMD/BMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7898714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Ljunggren, A., Duggan, D., McNally, E., Boylan, K. B., Gama, C. H., Kunkel, L. M., Hoffman, E. P. <strong>Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.</strong> Ann. Neurol. 38: 367-372, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668821</a>] [<a href="https://doi.org/10.1002/ana.410380305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7668821">Ljunggren et al. (1995)</a> screened the entire adhalin coding sequence in muscle biopsy specimens from 30 muscular dystrophy patients, finding a compound heterozygosity only in a single African American girl with childhood onset muscular dystrophy. The authors concluded that primary adhalin deficiency in patients with muscular dystrophy but normal dystrophin is relatively infrequent in North America. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668821" 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="#20" class="mim-tip-reference" title="Sampaolesi, M., Torrente, Y., Innocenzi, A., Tonlorenzi, R., D'Antona, G., Pellegrino, M. A., Barresi, R., Bresolin, N., Cusella De Angelis, M. G., Campbell, K. P., Bottinelli, R., Cossu, G. <strong>Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts.</strong> Science 301: 487-492, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12855815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12855815</a>] [<a href="https://doi.org/10.1126/science.1082254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12855815">Sampaolesi et al. (2003)</a> reported success in treating Sgca-null mice, a model for LGMD2D, with wildtype mesoangioblasts, a class of vessel-associated stem cells that differentiate into mesodermal cell types. After intraarterial delivery, the mesoangioblasts diffused from the arterial tree into skeletal muscle, where they were incorporated into muscle fibers and restored expression of the adhalin protein. Treated mice exhibited correction of the dystrophic phenotype, both morphologically and functionally. <a href="#20" class="mim-tip-reference" title="Sampaolesi, M., Torrente, Y., Innocenzi, A., Tonlorenzi, R., D'Antona, G., Pellegrino, M. A., Barresi, R., Bresolin, N., Cusella De Angelis, M. G., Campbell, K. P., Bottinelli, R., Cossu, G. <strong>Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts.</strong> Science 301: 487-492, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12855815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12855815</a>] [<a href="https://doi.org/10.1126/science.1082254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12855815">Sampaolesi et al. (2003)</a> also showed that mesoangioblasts isolated from juvenile Sgca-null mice and transduced with a lentiviral vector expressing SGCA reconstituted skeletal muscle similar to that seen in wildtype mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12855815" 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="#8" class="mim-tip-reference" title="Imamura, M., Mochizuki, Y., Engvall, E., Takeda, S. <strong>Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 14: 775-783, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689353</a>] [<a href="https://doi.org/10.1093/hmg/ddi072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689353">Imamura et al. (2005)</a> established several transgenic mouse lines that overexpressed Sgce (<a href="/entry/604149">604149</a>) in skeletal muscle. Overexpression in normal mice resulted in substitution of Sgce for Sgca in the sarcoglycan complex of skeletal muscle without any obvious abnormalities. Mice overexpressing Sgce were crossed with Sgca-deficient mice, and Sgca-deficient mice overexpressing Sgce exhibited no skeletal muscle cell membrane damage or abnormal contraction. <a href="#8" class="mim-tip-reference" title="Imamura, M., Mochizuki, Y., Engvall, E., Takeda, S. <strong>Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 14: 775-783, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689353</a>] [<a href="https://doi.org/10.1093/hmg/ddi072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689353">Imamura et al. (2005)</a> suggested that overexpression of SGCE may represent a therapeutic strategy for treatment of LGMD2D. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15689353" 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="#6" class="mim-tip-reference" title="Gargioli, C., Coletta, M., De Grandis, F., Cannata, S. M., Cossu, G. <strong>PlGF-MMP-9--expressing cells restore microcirculation and efficacy of cell therapy in aged dystrophic muscle.</strong> Nature Med. 14: 973-978, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660817</a>] [<a href="https://doi.org/10.1038/nm.1852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18660817">Gargioli et al. (2008)</a> found that intramuscular injection of 12-month-old Sgca-null mice with tendon fibroblasts containing an angiogenic factor (PGF; <a href="/entry/601121">601121</a>) and a metalloproteinase (MMP9; <a href="/entry/120361">120361</a>) resulted in generation of a vascular network and decreased collagen deposition. Intramuscular injection ameliorated subsequent intraarterial cell delivery of Sgca-expressing mesoangioblasts. Mice treated with both Pgf and Mmp9 showed restoration of regenerating muscle fibers reaching 60 to 70% of the numbers observed in wildtype mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18660817" 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 adeno-associated virus type 1 (AAV1)-mediated delivery of human SGCA to skeletal muscle fibers of Sgca-null mice, <a href="#18" class="mim-tip-reference" title="Rodino-Klapac, L. R., Lee, J.-S., Mulligan, R. C., Clark, K. R., Mendell, J. R. <strong>Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D.</strong> Neurology 71: 240-247, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18525034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18525034</a>] [<a href="https://doi.org/10.1212/01.wnl.0000306309.85301.e2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18525034">Rodino-Klapac et al. (2008)</a> observed sustained SGCA expression for up to 12 weeks without evidence of cytotoxicity and restored expression of the dystrophin-glycoprotein complex. Quantified analysis by fiber counts yielded 60 to 70% successful myofiber transduction for 2 muscle creatine kinase (CKM; <a href="/entry/123310">123310</a>) promoters and 34% fiber transduction with a desmin (DES; <a href="/entry/125660">125660</a>) promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18525034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Alonso-Perez, J., Gonzalez-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., and 48 others.
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[<a href="https://doi.org/10.1093/brain/awaa228" target="_blank">Full Text</a>]
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<a id="Angelini1998" class="mim-anchor"></a>
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Angelini, C., Fanin, M., Menegazzo, E., Freda, M. P., Duggan, D. J., Hoffman, E. P.
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[<a href="https://doi.org/10.1002/(sici)1097-4598(199806)21:6<769::aid-mus9>3.0.co;2-5" target="_blank">Full Text</a>]
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Babameto-Laku, A., Tabaku, M., Tashko, V., Cikuli, M., Mokini, V.
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<strong>The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9032047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9032047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9032047" 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/10.1056/NEJM199702273360904" target="_blank">Full Text</a>]
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Fadic, R., Sunada, Y., Waclawik, A. J., Buck, S., Lewandoski, P. J., Campbell, K. P., Lotz, B. P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8538707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8538707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8538707" 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/10.1056/NEJM199602083340604" target="_blank">Full Text</a>]
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Gargioli, C., Coletta, M., De Grandis, F., Cannata, S. M., Cossu, G.
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<strong>PlGF-MMP-9--expressing cells restore microcirculation and efficacy of cell therapy in aged dystrophic muscle.</strong>
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Nature Med. 14: 973-978, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18660817" 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/nm.1852" target="_blank">Full Text</a>]
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Hayashi, Y. K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K.
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<strong>The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7898714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7898714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7898714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.45.3.551" target="_blank">Full Text</a>]
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Imamura, M., Mochizuki, Y., Engvall, E., Takeda, S.
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<strong>Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.</strong>
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Hum. Molec. Genet. 14: 775-783, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15689353" 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/ddi072" target="_blank">Full Text</a>]
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Ljunggren, A., Duggan, D., McNally, E., Boylan, K. B., Gama, C. H., Kunkel, L. M., Hoffman, E. P.
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<strong>Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410380305" target="_blank">Full Text</a>]
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McNally, E. M., Bonnemann, C. G., Kunkel, L. M., Bhattacharya, S. K.
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<strong>Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. (Letter)</strong>
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New Eng. J. Med. 334: 1610-1611, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8628353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8628353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8628353" 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/10.1056/NEJM199606133342417" target="_blank">Full Text</a>]
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Mendell, J. R., Rodino-Klapac, L. R., Rosales, X. Q., Coley, B. D., Galloway, G., Lewis, S., Malik, V., Shilling, C., Byrne, B. J., Conlon, T., Campbell, K. J., Bremer, W. G., Taylor, L. E., Flanigan, K. M., Gastier-Foster, J. M., Astbury, C., Kota, J., Sahenk, Z., Walker, C. M., Clark, K. R.
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<strong>Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.</strong>
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Ann. Neurol. 68: 629-638, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21031578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21031578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21031578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21031578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.22251" target="_blank">Full Text</a>]
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<a id="Mendell2009" class="mim-anchor"></a>
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Mendell, J. R., Rodino-Klapac, L. R., Rosales-Quintero, X., Kota, J., Coley, B. D., Galloway, G., Craenen, J. M., Lewis, S., Malik, V., Shilling, C., Byrne, B. J., Conlon, T., Campbell, K. J., Bremer, W. G., Viollet, L., Walker, C. M., Sahenk, Z., Clark, K. R.
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<strong>Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.</strong>
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Ann. Neurol. 66: 290-297, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798725</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19798725[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21732" target="_blank">Full Text</a>]
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<a id="Passos Bueno1995" class="mim-anchor"></a>
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Passos Bueno, M. R., Moreira, E. S., Vainzof, M., Chamberlain, J., Marie, S. K., Pereira, L., Akiyama, J., Roberds, S. L., Campbell, K. P., Zatz, M.
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<strong>A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.</strong>
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Hum. Molec. Genet. 4: 1163-1167, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528203</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8528203" 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/4.7.1163" target="_blank">Full Text</a>]
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Passos-Bueno, M. R., Oliveira, J. R., Bakker, E., Anderson, R. D., Marie, S. K., Vainzof, M., Roberds, S. L., Campbell, K. P., Zatz, M.
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Hum. Molec. Genet. 2: 1945-1947, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8281158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8281158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8281158" 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/2.11.1945" target="_blank">Full Text</a>]
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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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[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://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'})">related citations</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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Piccolo, F., Roberds, S. L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrie, A., Recan, D., Chaouch, M., Reghis, A., El Kerch, F., Sefiani, A., Voit, T., Merlini, L., Collin, H., Eymard, B., Beckmann, J. S., Romero, N. B., Tome, F. M. S., Fardeau, M., Campbell, K. P., Kaplan, J.-C.
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<strong>Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.</strong>
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Nature Genet. 10: 243-245, 1995. Note: Erratum: Nature Genet. 11: 104 only, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7663524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7663524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7663524" 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/ng0695-243" target="_blank">Full Text</a>]
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Roberds, S. L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R. D., Lim, L. E., Lee, J. C., Tome, F. M. S., Romero, N. B., Fardeau, M., Beckmann, J. S., Kaplan, J.-C., Campbell, K. P.
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<strong>Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.</strong>
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Cell 78: 625-633, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8069911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8069911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8069911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(94)90527-4" target="_blank">Full Text</a>]
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Rodino-Klapac, L. R., Lee, J.-S., Mulligan, R. C., Clark, K. R., Mendell, J. R.
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<strong>Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D.</strong>
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Neurology 71: 240-247, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18525034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18525034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18525034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000306309.85301.e2" target="_blank">Full Text</a>]
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<a id="Romero1994" class="mim-anchor"></a>
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Romero, N. B., Tome, F. M. S., Leturcq, F., El Kerch, F., Azibi, K., Bachner, L., Anderson, R. D., Roberds, S. L., Campbell, K. P., Fardeau, M., Kaplan, J.-C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sampaolesi, M., Torrente, Y., Innocenzi, A., Tonlorenzi, R., D'Antona, G., Pellegrino, M. A., Barresi, R., Bresolin, N., Cusella De Angelis, M. G., Campbell, K. P., Bottinelli, R., Cossu, G.
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<strong>Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts.</strong>
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Science 301: 487-492, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12855815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12855815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12855815" 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/10.1126/science.1082254" target="_blank">Full Text</a>]
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Straub, V., Murphy, A., Udd, B.
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<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
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Neuromusc. Disord. 28: 702-710, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank">Full Text</a>]
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Trabelsi, M., Kavian, N., Daoud, F., Commere, V., Deburgrave, N., Beugnet, C., Llense, S., Barbot, J. C., Vasson, A., Kaplan, J. C., Leturcq, F., Chelly, J.
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Europ. J. Hum. Genet. 16: 793-803, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285821" 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/ejhg.2008.9" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 10/17/2022
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Cassandra L. Kniffin - updated : 9/20/2012<br>Cassandra L. Kniffin - updated : 3/23/2011<br>Cassandra L. Kniffin - updated : 1/24/2011<br>Cassandra L. Kniffin - updated : 1/23/2009<br>Cassandra L. Kniffin - updated : 9/30/2008<br>Cassandra L. Kniffin - updated : 9/25/2008<br>George E. Tiller - updated : 4/29/2008<br>Cassandra L. Kniffin - updated : 9/22/2003
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Cassandra L. Kniffin : 9/16/2003
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alopez : 08/15/2024
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carol : 06/09/2023<br>carol : 01/21/2023<br>carol : 10/18/2022<br>carol : 10/17/2022<br>carol : 10/19/2021<br>carol : 09/27/2018<br>carol : 09/26/2018<br>carol : 09/25/2018<br>carol : 02/23/2015<br>terry : 4/4/2013<br>carol : 9/20/2012<br>ckniffin : 9/20/2012<br>wwang : 4/5/2011<br>ckniffin : 3/23/2011<br>wwang : 2/17/2011<br>ckniffin : 1/24/2011<br>wwang : 1/30/2009<br>ckniffin : 1/23/2009<br>wwang : 10/3/2008<br>ckniffin : 9/30/2008<br>wwang : 9/25/2008<br>ckniffin : 9/25/2008<br>wwang : 4/29/2008<br>terry : 11/16/2006<br>ckniffin : 9/10/2004<br>carol : 7/27/2004<br>carol : 10/1/2003<br>carol : 9/23/2003<br>ckniffin : 9/22/2003
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<span class="mim-font">
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<strong>#</strong> 608099
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3
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<em>Alternative titles; symbols</em>
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D<br />
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DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2; DMDA2<br />
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ADHALINOPATHY, PRIMARY
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<strong>SNOMEDCT:</strong> 715340002;
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<strong>ICD10CM:</strong> G71.0341;
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<strong>ORPHA:</strong> 62;
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<strong>DO:</strong> 0110278;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17q21.33
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Muscular dystrophy, limb-girdle, autosomal recessive 3
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<span class="mim-font">
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608099
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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SGCA
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600119
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) is caused by homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q21.</p>
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<strong>Description</strong>
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<p>Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). </p><p>For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</p>
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<strong>Nomenclature</strong>
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<p>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, LGMD2D was renamed LGMDR3. </p>
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<strong>Clinical Features</strong>
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<p>Romero et al. (1994) reported a French family with a progressive form of muscular dystrophy that was clinically milder than severe autosomal recessive muscular dystrophy (SCARMD; 253700). Four sibs had mild to overt symptoms, including proximal muscle weakness beginning at about age 10 years, calf hypertrophy, and elevated serum creatine kinase. Muscle biopsies showed variable degrees of necrosis and regeneration with little fibrosis. In all 4 cases, the 50-kD dystrophin-associated glycoprotein adhalin was completely absent in muscle sections, whereas dystrophin and other members of the dystrophin-associated protein complex were normal, except for the 35-kD dystrophin-associated glycoprotein gamma-sarcoglycan (SGCG; 608896), which was slightly reduced. Linkage analysis excluded the SCARMD locus on chromosome 13q, indicating a genetically distinct disorder. Romero et al. (1994) stated that there are 2 kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin and one in which absence of adhalin is secondary to a separate gene defect on chromosome 13. </p><p>Fadic et al. (1996) demonstrated adhalin deficiency in a 13-year-old boy who had previously been given a diagnosis of Becker muscular dystrophy (300376) and was referred for dilated cardiomyopathy and congestive heart failure. He had been asymptomatic until 9 years of age when proximal muscle weakness developed. Examination at that time showed flexion contracture at the ankles, hypertrophy of the calf muscle, and Gowers sign. The serum creatine kinase level was very high. There was no family history of consanguinity or neuromuscular disease. Both his sister and his mother had normal serum creatine kinase levels. His congestive heart failure was refractory to diuretic therapy and to inotropic therapy. He required a left ventricular assist device for circulatory support for 6 weeks and then underwent successful heart transplantation. Cardiac abnormalities had been described in patients with adhalin deficiency or muscular dystrophy but expression of dystrophin-associated proteins, including adhalin, in cardiac muscle had not been determined. Fadic et al. (1996) found normal immunostaining in both skeletal and cardiac muscle with antibodies directed against the 3 portions of the dystrophin molecule. On the other hand, immunostaining of adhalin was drastically reduced in skeletal muscle and undetectable by immunofluorescence in cardiac muscle. The disorder was thought to be recessive in this patient. McNally et al. (1996) commented that mutations in several genes can cause adhalin deficiency and that the patient reported by Fadic et al. (1996) did not necessarily have a mutation in the SGCA gene. McNally et al. (1996) noted that mutation in any of 3 proteins in the 'sarcoglycan complex,' alpha-, beta-, or gamma-sarcoglycan, can cause muscular dystrophy as well as a decrease in immunostaining for all 3 sarcoglycan components. </p><p>Angelini et al. (1998) described 2 sibs with a homozygous mutation in the alpha-sarcoglycan gene (600119.0005) who presented strikingly different clinical phenotypes. The brother was asymptomatic and the sister had mild limb-girdle muscular dystrophy that was steroid responsive. Immunohistochemistry for alpha-sarcoglycan showed reduced intensity in the sister and findings similar to normal in the brother. Unknown epigenetic or environmental factors appeared to be important in determining protein and clinical phenotype expression. The sister, 40 years old at the time of report, had presented at the age of 10 to 12 years with mild thoracic scoliosis. At the age of 20 years she presented with waddling gait. Proximal weakness in the lower limbs was noted at 28 years, together with difficulty getting up from the floor or rising from a low chair. Weakness in the upper limbs was noted at the age of 30 years, with difficulty lifting objects over her head. The 35-year-old brother had increased creatine kinase levels but a negative neuromuscular examination, except for mild scoliosis. </p><p>Passos-Bueno et al. (1999) studied 140 patients from 40 Brazilian families with one of 7 autosomal recessive limb-girdle muscular dystrophies (LGMD2A-LGMD2G). Among the sarcoglycanopathies, serum creatine kinase levels were highest in the LGMD2D patients. </p><p>Babameto-Laku et al. (2011) reported 2 Albanian sibs, born of consanguineous parents, with LGMD2D. The 7-year-old sister showed difficulty climbing stairs and getting up at age 3 years. This proximal muscle weakness progressed, with frequent falls, waddling gait, toe-walking, and difficulty raising the arms above the head. She also had calf pseudohypertrophy, Achilles tendon contractures, mild scapular winging, and hyperlordosis. Her younger brother started to manifest similar clinical symptoms of proximal muscle weakness between 2 and 3 years of age. Both patients had increased serum creatine kinase, and muscular biopsy showed dystrophic changes with decreased staining for alpha- and gamma-sarcoglycan (SGCG; 608896). The phenotype in both patients was clinically severe enough to suggest Duchenne muscular dystrophy. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LGMDR3 in the family reported by Romero et al. (1994) and Roberds et al. (1994) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>Passos-Bueno et al. (1993) found 4 Brazilian families with Duchenne-like muscular dystrophy who were not linked to 13q, indicating genetic heterogeneity for the disorder. </p><p>In a large French family with autosomal recessive limb-girdle muscular dystrophy in which Romero et al. (1994) excluded linkage to markers on 13q, Roberds et al. (1994) found perfect cosegregation between the disease and 1 allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene on chromosome 17q. </p><p>Passos Bueno et al. (1995) performed linkage analysis with chromosome 17q markers in 3 autosomal recessive limb-girdle muscular dystrophy families and in 4 Duchenne-like muscular dystrophy families, all with adhalin deficiency and unlinked to any of the 3 chromosome sites where forms of autosomal recessive limb-girdle muscular dystrophy had been mapped: 15q (LGMDR1; 253600); 2p (LGMDR2; 253601), and 13q (LGMDR5; 253700). Linkage to 17q was observed only among 3 families with a mild phenotype. Passos Bueno et al. (1995) referred to the 17q-linked muscular dystrophy as LGMD2D. </p>
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<strong>Molecular Genetics</strong>
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<p>In a French family with mild autosomal recessive limb-girdle muscular dystrophy reported by Romero et al. (1994), Roberds et al. (1994) identified missense mutations in the adhalin gene (see, e.g., 600119.0001-600119.0002). The family was nonconsanguineous and the affected members were compound heterozygotes, with one mutation coming from each parent. </p><p>Piccolo et al. (1995) described several additional mutations (null and missense) in the adhalin gene (see, e.g., 600119.0003) in 10 affected families from Europe and North Africa. Disease severity varied in age of onset and rate of progression, and patients with null mutations were the most severely affected. </p><p>In 3 affected Brazilian families with a mild phenotype showing linkage to 17q, Passos Bueno et al. (1995) identified the same missense mutation in the adhalin gene (600119.0003). </p><p>Trabelsi et al. (2008) identified biallelic mutations in sarcoglycan genes in 46 (67%) of 69 patients with a clinical diagnosis of autosomal recessive LGMD. Twenty-six (56.5%) patients had SGCA mutations, 8 (17.3%) had SGCB (600900) mutations, and 12 (26%) had SGCG mutations. A total of 23 different mutations, including 10 novel mutations, were identified in SGCA, with a relatively high frequency of mutations in exon 3 (13 of 26, 50%) and exon 5 (6 of 26, 23%). </p><p>In 2 Albanian sibs, born of consanguineous parents, with LGMD2D, Babameto-Laku et al. (2011) identified a homozygous mutation in the SGCA gene (R192X; 600119.0007). Each unaffected parent was heterozygous for the mutation. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Duggan et al. (1997) undertook to determine the frequency of sarcoglycan gene mutations and the relationship between the clinical features and genotype in 556 patients with myopathy but normal dystrophin genes. Antibody against alpha-sarcoglycan was used to stain muscle-biopsy specimens from these patients. Those whose biopsy specimens showed deficiency of alpha-sarcoglycan on immunostaining were studied for mutations of the alpha-, beta-, and gamma-sarcoglycan genes with reverse transcription of muscle RNA, analysis involving single-strand conformation polymorphisms, and sequencing. Levels of alpha-sarcoglycan were found to be decreased on immunostaining of muscle biopsy specimens from 54 of the 556 patients (10%); in 25 of these patients no alpha-sarcoglycan was detected. Screening for sarcoglycan gene mutations in 50 of the 54 patients revealed mutations in 29 patients (58%): 17 had mutations in the SGCA gene, 8 in the SGCB gene, and 4 in the SGCG gene. The prevalence of sarcoglycan gene mutations was highest among patients with severe (Duchenne-like) muscular dystrophy that began in childhood (18 of 83 patients, or 22%); the prevalence among patients with proximal (limb-girdle) muscular dystrophy with a later onset was 6% (11 of 180 patients). </p><p>Alonso-Perez et al. (2020) reviewed genotype-phenotype correlations in 396 patients with a sarcoglycanopathy from 13 European countries, of whom 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4 (604286), 157 of LGMDR5 (253700), and 7 of LGMDR6 (608099). Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Onset of symptoms before 10 years of age and residual protein expression lower than 30% were identified as independent risk factors for losing ambulation before 18 years of age in LGMDR3, LGMDR4, and LGMDR5 patients. Sixty percent of LGMDR3 patients carried one of the following mutations in homozygous or heterozygous state: c.229C-T (600119.0003), c.850C-T (600119.0005), or c.739G-A. </p>
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<strong>Gene Therapy</strong>
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<p>In a double-blind randomized control trial of 3 nonambulatory patients with genetically confirmed LGMD2D, Mendell et al. (2009) found that replacement of the SGCA gene using an adeno-associated virus type 1 (AAV1) vector resulted in 4- to 5-fold increased SGCA expression and restoration of the full sarcoglycan complex in a small foot muscle of the treated side compared to the untreated side in each patient. Examination after 3 months in 1 patient showed increased muscle fiber size in the transduced muscle. There were no adverse side effects. The study used the muscle-specific creatine kinase promoter to improve the safety profile of gene transfer targeting muscle. </p><p>Mendell et al. (2010) reported 3 additional patients treated with SGCA gene replacement therapy similar to their previous report (Mendell et al., 2009). At 6 months after gene therapy, 2 of the 3 patients showed sustained increased SGCA expression reaching wildtype levels, but only 1 had clear evidence of increased muscle fiber diameter. The third patient showed no increased SGCA gene expression after 6 months and also had early humoral and T-cell responses to the AAV1 capsid, suggestive of an amnestic inflammatory response. Combined with the earlier study, the findings provided an overall favorable response to SGCA gene therapy in patients with LGMD2D. </p>
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<strong>Population Genetics</strong>
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<p>Hayashi et al. (1995) performed an immunocytochemical survey of muscle biopsies from 243 Japanese muscular dystrophy patients over 2.5 years. They identified 5 unrelated Japanese patients (3 females and 2 males with no family history) as having adhalin deficiency. There was extremely faint but positive staining of the sarcolemma similar to that described in the 13q-linked congenital muscular dystrophy prevalent in North Africa. From these data they predicted the gene frequency for this deficiency in Japan to be between 0.1 and 0.2%, with a prevalence of the deficiency in the Japanese population to be about 1 x 10(-6). In their series, Hayashi et al. (1995) found this deficiency to account for only 4% of patients with DMD/BMD. </p><p>Ljunggren et al. (1995) screened the entire adhalin coding sequence in muscle biopsy specimens from 30 muscular dystrophy patients, finding a compound heterozygosity only in a single African American girl with childhood onset muscular dystrophy. The authors concluded that primary adhalin deficiency in patients with muscular dystrophy but normal dystrophin is relatively infrequent in North America. </p>
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Sampaolesi et al. (2003) reported success in treating Sgca-null mice, a model for LGMD2D, with wildtype mesoangioblasts, a class of vessel-associated stem cells that differentiate into mesodermal cell types. After intraarterial delivery, the mesoangioblasts diffused from the arterial tree into skeletal muscle, where they were incorporated into muscle fibers and restored expression of the adhalin protein. Treated mice exhibited correction of the dystrophic phenotype, both morphologically and functionally. Sampaolesi et al. (2003) also showed that mesoangioblasts isolated from juvenile Sgca-null mice and transduced with a lentiviral vector expressing SGCA reconstituted skeletal muscle similar to that seen in wildtype mice. </p><p>Imamura et al. (2005) established several transgenic mouse lines that overexpressed Sgce (604149) in skeletal muscle. Overexpression in normal mice resulted in substitution of Sgce for Sgca in the sarcoglycan complex of skeletal muscle without any obvious abnormalities. Mice overexpressing Sgce were crossed with Sgca-deficient mice, and Sgca-deficient mice overexpressing Sgce exhibited no skeletal muscle cell membrane damage or abnormal contraction. Imamura et al. (2005) suggested that overexpression of SGCE may represent a therapeutic strategy for treatment of LGMD2D. </p><p>Gargioli et al. (2008) found that intramuscular injection of 12-month-old Sgca-null mice with tendon fibroblasts containing an angiogenic factor (PGF; 601121) and a metalloproteinase (MMP9; 120361) resulted in generation of a vascular network and decreased collagen deposition. Intramuscular injection ameliorated subsequent intraarterial cell delivery of Sgca-expressing mesoangioblasts. Mice treated with both Pgf and Mmp9 showed restoration of regenerating muscle fibers reaching 60 to 70% of the numbers observed in wildtype mice. </p><p>By adeno-associated virus type 1 (AAV1)-mediated delivery of human SGCA to skeletal muscle fibers of Sgca-null mice, Rodino-Klapac et al. (2008) observed sustained SGCA expression for up to 12 weeks without evidence of cytotoxicity and restored expression of the dystrophin-glycoprotein complex. Quantified analysis by fiber counts yielded 60 to 70% successful myofiber transduction for 2 muscle creatine kinase (CKM; 123310) promoters and 34% fiber transduction with a desmin (DES; 125660) promoter. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Printed: March 6, 2025
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Dear OMIM User,
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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