3777 lines
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Entry
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- *600119 - SARCOGLYCAN, ALPHA; SGCA
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- OMIM
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<div class="container hidden-print">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600119</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600119">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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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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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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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="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000108823;t=ENST00000262018" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=6442" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=600119" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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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="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000108823;t=ENST00000262018" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000023,NM_001135697,NR_135553" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000023" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=600119" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=02525&isoform_id=02525_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SGCA" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/511587,533184,557731,950329,4506911,13431858,19344019,119615040,119615041,158254676,208973226,221039568,221043306,444737791,957950194,957950197" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q16586" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=6442" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000108823;t=ENST00000262018" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SGCA" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SGCA" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+6442" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/SGCA" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:6442" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6442" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000262018.8&hgg_start=50166005&hgg_end=50175928&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="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="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse 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://search.clinicalgenome.org/kb/genes/HGNC:10805" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/sgca" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600119[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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600119[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000108823" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SGCA" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SGCA" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SGCA" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/SGCA" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SGCA&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA35716" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:10805" 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="https://flybase.org/reports/FBgn0032013.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:894698" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/SGCA#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:894698" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6442/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</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://www.orthodb.org/?ncbi=6442" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019227;class=Gene" 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'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041111-121" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6442" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SGCA&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715340002<br />
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<strong>ICD10CM:</strong> G71.0341<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600119
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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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SARCOGLYCAN, ALPHA; SGCA
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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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ADHALIN; ADL<br />
|
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DYSTROGLYCAN 2; DAG2<br />
|
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DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 50-KD<br />
|
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50-DAG
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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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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SGCA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SGCA</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/17/733?start=-3&limit=10&highlight=733">17q21.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:50166005-50175928&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:50,166,005-50,175,928</a> </span>
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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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="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<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>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/733?start=-3&limit=10&highlight=733">
|
|
17q21.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 3
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/608099"> 608099 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<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>
|
|
<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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</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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600119" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The dystrophin-glycoprotein complex (DGC) comprises a group of proteins that are critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Components of the DGC include dystrophin (<a href="/entry/300377">300377</a>), which is deficient in Duchenne muscular dystrophy (DMD; <a href="/entry/310200">310200</a>); syntrophins (e.g., <a href="/entry/600026">600026</a>); dystroglycans (<a href="/entry/128239">128239</a>); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (<a href="#13" class="mim-tip-reference" title="Roberds, S. L., Anderson, R. D., Ibraghimov-Beskrovnaya, O., Campbell, K. P. <strong>Primary structure and muscle-specific expression on the 50-kDa dystrophin-associated glycoprotein (adhalin).</strong> J. Biol. Chem. 268: 23739-23742, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8226900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8226900</a>]" pmid="8226900">Roberds et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8226900" 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="#13" class="mim-tip-reference" title="Roberds, S. L., Anderson, R. D., Ibraghimov-Beskrovnaya, O., Campbell, K. P. <strong>Primary structure and muscle-specific expression on the 50-kDa dystrophin-associated glycoprotein (adhalin).</strong> J. Biol. Chem. 268: 23739-23742, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8226900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8226900</a>]" pmid="8226900">Roberds et al. (1993)</a> cloned cDNA encoding 50-DAG from rabbit skeletal muscle. The deduced amino acid sequence of the gene product predicted a 387-amino acid protein with a 17-amino acid signal sequence, 1 transmembrane domain, and 2 potential sites of N-linked glycosylation. Affinity-purified antibodies against rabbit 50-DAG fusion proteins or synthetic peptides specifically recognized a 50-kD protein in skeletal muscle sarcolemma and the 50-kD component of the dystrophin glycoprotein complex. In contrast to dystroglycan, which is expressed in a wide variety of muscle and nonmuscle tissues, 50-DAG was expressed only in skeletal and cardiac muscles and in selected smooth muscles. <a href="#13" class="mim-tip-reference" title="Roberds, S. L., Anderson, R. D., Ibraghimov-Beskrovnaya, O., Campbell, K. P. <strong>Primary structure and muscle-specific expression on the 50-kDa dystrophin-associated glycoprotein (adhalin).</strong> J. Biol. Chem. 268: 23739-23742, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8226900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8226900</a>]" pmid="8226900">Roberds et al. (1993)</a> found 50-DAG mRNA in muscle from mdx mice and DMD humans, both with mutations in the dystrophin gene, indicating that the downregulation of this protein in these disease states is probably a posttranslational event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8226900" 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="#14" 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> isolated human adhalin cDNA from a human skeletal muscle library and determined the sequence of the gene. They found that human and rabbit adhalin are 86% identical at the amino acid level. Northern blot analysis showed that human adhalin mRNA was most abundant in skeletal muscle, but also expressed in cardiac muscle, and, at much lower levels, in lung. Adhalin mRNA was not detected in brain. <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'})"><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="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> determined that the SGCA gene contains 10 exons. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By PCR applied to a panel of human/rodent somatic cell hybrids and DNAs from cell lines with deletion of various parts of chromosome 17, <a href="#14" 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> mapped the SGCA gene to 17q12-q21.33. <a href="#10" class="mim-tip-reference" title="McNally, E. M., Yoshida, M., Mizuno, Y., Ozawa, E., Kunkel, L. M. <strong>Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.</strong> Proc. Nat. Acad. Sci. 91: 9690-9694, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7937874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7937874</a>] [<a href="https://doi.org/10.1073/pnas.91.21.9690" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7937874">McNally et al. (1994)</a> likewise mapped the SGCA gene to 17q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7937874+8069911" 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="#10" class="mim-tip-reference" title="McNally, E. M., Yoshida, M., Mizuno, Y., Ozawa, E., Kunkel, L. M. <strong>Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.</strong> Proc. Nat. Acad. Sci. 91: 9690-9694, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7937874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7937874</a>] [<a href="https://doi.org/10.1073/pnas.91.21.9690" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7937874">McNally et al. (1994)</a> reported that adhalin mRNA from cardiac muscle is shorter than that from skeletal muscle and lacks the base sequence encoding the transmembrane domain. They found lower expression of the ADL gene in cardiac muscle, which may explain the less severe cardiac dysfunction in some patients with adhalin-deficient muscular dystrophy (LGMDR3; <a href="/entry/608099">608099</a>). The expression of both adhalin splice forms was exclusively restricted to striated muscle, unlike other components of the dystrophin-glycoprotein complex. The authors speculated that the absence of mental retardation in adhalin-deficient muscular dystrophy is most likely explained by the absence of adhalin expression in the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7937874" 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="Matsumura, K., Tome, F. M. S., Collin, H., Azibi, K., Chaouch, M., Kaplan, J.-C., Fardeau, M., Campbell, K. P. <strong>Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.</strong> Nature 359: 320-322, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1406935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1406935</a>] [<a href="https://doi.org/10.1038/359320a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1406935">Matsumura et al. (1992)</a> found a specific deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. The findings suggested that a loss of dystrophin-associated glycoproteins in the sarcolemma is a common denominator in the pathologic processes leading to muscle cell necrosis in various forms of muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1406935" 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 large French family with a mild form of adhalin-deficient limb-girdle muscular dystrophy (LGMDR3; <a href="/entry/608099">608099</a>), previously symbolized LGMD2D, <a href="#15" 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> identified mutations in the adhalin gene (<a href="#0001">600119.0001</a>-<a href="#0002">600119.0002</a>). The family was nonconsanguineous and affected members were compound heterozygotes, with one mutation coming from each parent. In 10 families from Europe and North Africa with LGMD2D, <a href="#12" 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="#0003">600119.0003</a>). Patients with null mutations were the most severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7987694+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><a href="#4" class="mim-tip-reference" title="Carrie, A., Piccolo, F., Leturcq, F., de Toma, C., Azibi, K., Beldjord, C., Vallat, J.-M., Merlini, L., Voit, T., Sewry, C., Urtizberea, J. A., Romero, N., Tome, F. M. S., Fardeau, M., Sunada, Y., Campbell, K. P., Kaplan, J.-C., Jeanpierre, M. <strong>Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).</strong> J. Med. Genet. 34: 470-475, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192266</a>] [<a href="https://doi.org/10.1136/jmg.34.6.470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9192266">Carrie et al. (1997)</a> studied a series of 20 unrelated LGMD2D families with 14 different mutations in the alpha-sarcoglycan gene. Along with the mutations previously reported, this brought their cohort of patients with alpha-sarcoglycanopathy to a total of 31 unrelated patients, carrying 25 different mutations. The missense mutations resided in the extracellular domain of the protein. Five of 15 missense mutations, carried by unrelated subjects on different haplotypes and of widespread geographic origins, account for 58% of the mutated chromosomes with a striking prevalence of the R77C (<a href="#0003">600119.0003</a>) substitution (32%). The severity of the disease varied strikingly and correlated at least in part with the amount of residual protein and the type of mutation. The recurrent R284C substitution (<a href="#0005">600119.0005</a>) was associated with a benign disease course. Almost all patients presented with a limb-girdle muscular dystrophy phenotype of variable severity. Neither heart involvement nor mental retardation was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9192266" 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="Bartoli, M., Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-Lacaze, N., Perez, N., Udd, B., Danos, O., Richard, I. <strong>Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.</strong> Hum. Molec. Genet. 17: 1214-1221, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252745</a>] [<a href="https://doi.org/10.1093/hmg/ddn029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252745">Bartoli et al. (2008)</a> found that SGCA with the R77C mutation was retained in the endoplasmic reticulum (ER), where it formed aggregates. Surface expression of mutant SGCA could be rescued by inhibiting its degradation via proteasome-mediated ER-associated degradation (ERAD) or by inhibiting mannosidase I (MAN1B1; <a href="/entry/604346">604346</a>), an ER enzyme that directs misfolded glycoproteins toward ERAD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="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 (<a href="/entry/608896">608896</a>) 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>
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<p>To investigate mechanisms in the pathogenesis of cardiomyopathy associated with mutations of the dystrophin-glycoprotein complex, <a href="#5" class="mim-tip-reference" title="Coral-Vazquez, R., Cohn, R. D., Moore, S. A., Hill, J. A., Weiss, R. M., Davisson, R. L., Straub, V., Barresi, R., Bansal, D., Hrstka, R. F., Williamson, R., Campbell, K. P. <strong>Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.</strong> Cell 98: 465-474, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10481911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10481911</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81975-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10481911">Coral-Vazquez et al. (1999)</a> analyzed genetically engineered mice deficient for either the Sgca or Sgcd (<a href="/entry/601411">601411</a>) gene. They found that only Sgcd-null mice developed cardiomyopathy with focal areas of necrosis as the histologic hallmark in cardiac and skeletal muscle. The authors observed absence of the sarcoglycan-sarcospan (SG-SSPN) complex in skeletal and cardiac membranes in both animal models. These data indicated that disruption of the SG-SSPN complex in vascular smooth muscle perturbs vascular function, which initiates cardiomyopathy and exacerbates muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10481911" 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="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="#6" 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="#8" class="mim-tip-reference" title="Kobuke, K., Piccolo, F., Garringer, K. W., Moore, S. A., Sweezer, E., Yang, B., Campbell, K. P. <strong>A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.</strong> Hum. Molec. Genet. 17: 1201-1213, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252746[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/10.1093/hmg/ddn009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252746">Kobuke et al. (2008)</a> and <a href="#3" class="mim-tip-reference" title="Bartoli, M., Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-Lacaze, N., Perez, N., Udd, B., Danos, O., Richard, I. <strong>Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.</strong> Hum. Molec. Genet. 17: 1214-1221, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252745</a>] [<a href="https://doi.org/10.1093/hmg/ddn029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252745">Bartoli et al. (2008)</a> independently created mice expressing Sgca with a his77-to-cys (H77C) mutation, corresponding to the common human SGCA mutation R77C (<a href="#0003">600119.0003</a>). Both groups found that mice homozygous for H77C appeared normal and developed no signs of muscular dystrophy at either the histologic or physiologic levels. <a href="#8" class="mim-tip-reference" title="Kobuke, K., Piccolo, F., Garringer, K. W., Moore, S. A., Sweezer, E., Yang, B., Campbell, K. P. <strong>A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.</strong> Hum. Molec. Genet. 17: 1201-1213, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252746[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/10.1093/hmg/ddn009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252746">Kobuke et al. (2008)</a> found that human SGCA with the R77C mutation was correctly processed and transported to the sarcolemma of Sgca -/- mice, where it rescued the dystrophic phenotype of Sgca -/- mice. <a href="#8" class="mim-tip-reference" title="Kobuke, K., Piccolo, F., Garringer, K. W., Moore, S. A., Sweezer, E., Yang, B., Campbell, K. P. <strong>A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.</strong> Hum. Molec. Genet. 17: 1201-1213, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252746[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/10.1093/hmg/ddn009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252746">Kobuke et al. (2008)</a> and <a href="#3" class="mim-tip-reference" title="Bartoli, M., Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-Lacaze, N., Perez, N., Udd, B., Danos, O., Richard, I. <strong>Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.</strong> Hum. Molec. Genet. 17: 1214-1221, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252745</a>] [<a href="https://doi.org/10.1093/hmg/ddn029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252745">Bartoli et al. (2008)</a> concluded that SGCA is subject to species-specific trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18252746+18252745" 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 50-kD dystrophin-associated glycoprotein was named adhalin from the Arabic adhal (muscle). As the first component of the sarcoglycan complex to be identified, adhalin is also referred to as alpha-sarcoglycan. Beta-sarcoglycan (<a href="/entry/600900">600900</a>) was the second component to be identified.</p>
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<p>In a nonconsanguineous French family with limb-girdle muscular dystrophy type 2D (LGMDR3; <a href="/entry/608099">608099</a>), <a href="#14" 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 that affected members were compound heterozygotes for a maternally derived arg98-to-his (R98H) mutation and a paternally derived val175-to-ala (V175A) mutation (<a href="#0002">600119.0002</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'})"><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>For discussion of the val175-to-ala (V175A) mutation in the SGCA gene that was found in compound heterozygous state in patients with limb-girdle muscular dystrophy type 2D (LGMDR3; <a href="/entry/608099">608099</a>) by <a href="#14" 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>, see <a href="#0001">600119.0001</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'})"><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>.0003 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28933693 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933693;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28933693?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28933693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28933693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010044 OR RCV000077937 OR RCV000779225 OR RCV001813971 OR RCV003987316" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010044, RCV000077937, RCV000779225, RCV001813971, RCV003987316" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010044...</a>
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<p>In a German family with Duchenne-like muscular dystrophy of intermediate severity (LGMDR3; <a href="/entry/608099">608099</a>), <a href="#12" 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> found a homozygous CGC-to-TGC transition in exon 3 of the SGCA gene, resulting in an arg77-to-cys (R77C) substitution. The same mutation was found in the heterozygous state in 2 apparently unrelated French families in which the affected individuals were compound heterozygotes. In a note added in proof, <a href="#12" 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> commented that out of a total of 46 mutated chromosomes from unrelated families in Europe and the US, 11 had the R77C mutation. Four patients were homozygous for the mutation. <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><a href="#11" 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 mutation in 3 Brazilian families with a relatively mild form of 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><p>In a Japanese patient with autosomal recessive childhood-onset muscular dystrophy from a consanguineous family, <a href="#7" class="mim-tip-reference" title="Kawai, H., Akaike, M., Endo, T., Adachi, K., Inui, T., Mitsui, T., Kashiwagi, S., Fujiwara, T., Okuno, S., Shin, S., Miyoshi, K., Campbell, K. P., Yamada, H., Shimizu, T., Matsumura, K., Saito, S. <strong>Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.</strong> J. Clin. Invest. 96: 1202-1207, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657792</a>] [<a href="https://doi.org/10.1172/JCI118152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7657792">Kawai et al. (1995)</a> found homozygosity for the R77C mutation. Muscle biopsy showed complete absence of adhalin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657792" 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="Bartoli, M., Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-Lacaze, N., Perez, N., Udd, B., Danos, O., Richard, I. <strong>Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.</strong> Hum. Molec. Genet. 17: 1214-1221, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252745</a>] [<a href="https://doi.org/10.1093/hmg/ddn029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252745">Bartoli et al. (2008)</a> found that SGCA with the R77C mutation was retained in the endoplasmic reticulum (ER), where it formed aggregates. Surface expression of mutant SGCA could be rescued by inhibiting its degradation via proteasome-mediated ER-associated degradation (ERAD) or by inhibiting mannosidase I (MAN1B1; <a href="/entry/604346">604346</a>), an ER enzyme that directs misfolded glycoproteins toward ERAD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252745" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397514451 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514451;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010045" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010045" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010045</a>
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<p><a href="#7" class="mim-tip-reference" title="Kawai, H., Akaike, M., Endo, T., Adachi, K., Inui, T., Mitsui, T., Kashiwagi, S., Fujiwara, T., Okuno, S., Shin, S., Miyoshi, K., Campbell, K. P., Yamada, H., Shimizu, T., Matsumura, K., Saito, S. <strong>Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.</strong> J. Clin. Invest. 96: 1202-1207, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657792</a>] [<a href="https://doi.org/10.1172/JCI118152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7657792">Kawai et al. (1995)</a> reported homozygosity for a double mutation in the ADL gene in a Japanese family in which 5 individuals in 2 sibships over 2 successive generations were affected with limb-girdle muscular dystrophy type 2D (LGMDR3; <a href="/entry/608099">608099</a>). In the case of each sibship, the parents were related as first cousins. The mutation consisted of a 410A-G transition, resulting in a glu137-to-gly (E137G) substitution. In addition, there was a 15-bp insertion between nucleotides 408 and 409 (between codons 136 and 137), which added 5 amino acids in-frame to the gene product. Muscle biopsy of affected patients showed complete absence of adhalin. The patients did not suffer from severe cardiac dysfunction or mental retardation, which are features of DMD. Indeed, one patient showed no symptoms of cardiac failure, even at 56 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657792" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852623 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852623;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852623?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010046 OR RCV000498385 OR RCV000778108 OR RCV001194149 OR RCV001813972" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010046, RCV000498385, RCV000778108, RCV001194149, RCV001813972" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010046...</a>
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<p>In a 40-year-old woman with mild limb-girdle type muscular dystrophy (LGMDR3; <a href="/entry/608099">608099</a>) that responded to steroid administration, <a href="#1" 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> found a homozygous 850C-T change, resulting in an arg284-to-cys (R284C) substitution. Her asymptomatic 35-year-old brother had the same homozygous mutation. <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>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010047" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010047" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010047</a>
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<p>In an 18-year-old Russian patient with limb-girdle muscular dystrophy type 2D (LGMDR3; <a href="/entry/608099">608099</a>) who was initially diagnosed with Duchenne muscular dystrophy (<a href="/entry/310200">310200</a>), <a href="#16" class="mim-tip-reference" title="Schara, U., Gencik, M., Mortier, J., Langen, M., Gencikova, A., Epplen, J. T., Mortier, W. <strong>Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.</strong> Europ. J. Pediat. 160: 452-453, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11475588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11475588</a>] [<a href="https://doi.org/10.1007/s004310100744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11475588">Schara et al. (2001)</a> identified compound heterozygosity for a tyr134-to-stop (Y134X) substitution and the R77C mutation (<a href="#0003">600119.0003</a>) in the SGCA gene. <a href="#16" class="mim-tip-reference" title="Schara, U., Gencik, M., Mortier, J., Langen, M., Gencikova, A., Epplen, J. T., Mortier, W. <strong>Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.</strong> Europ. J. Pediat. 160: 452-453, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11475588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11475588</a>] [<a href="https://doi.org/10.1007/s004310100744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11475588">Schara et al. (2001)</a> reinforced the need for molecular genetic analysis to establish the correct diagnosis in patients with limb-girdle muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11475588" 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>.0007 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907298 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907298;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907298?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030783 OR RCV000730723 OR RCV001836716 OR RCV004998112" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030783, RCV000730723, RCV001836716, RCV004998112" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030783...</a>
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<p>In 2 Albanian sibs, born of consanguineous parents, with limb-girdle muscular dystrophy type 2D (LGMDR3; <a href="/entry/608099">608099</a>), <a href="#2" 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 574C-T transition in exon 5 of the SGCA gene, resulting in an arg192-to-ter (R192X) substitution. Each unaffected parent was heterozygous for the mutation. 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 severe enough to clinically suggest Duchenne muscular dystrophy (<a href="/entry/310200">310200</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>
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|
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<a id="1" class="mim-anchor"></a>
|
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<a id="Angelini1998" class="mim-anchor"></a>
|
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|
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<p class="mim-text-font">
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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://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'})">related citations</a>]
|
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|
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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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</p>
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|
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</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Babameto-Laku2011" class="mim-anchor"></a>
|
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|
|
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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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Genet. Counsel. 22: 377-383, 2011.
|
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[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>, <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'})">related citations</a>]
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</li>
|
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|
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<a id="3" class="mim-anchor"></a>
|
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<a id="Bartoli2008" class="mim-anchor"></a>
|
|
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|
|
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|
|
Bartoli, M., Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-Lacaze, N., Perez, N., Udd, B., Danos, O., Richard, I.
|
|
<strong>Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.</strong>
|
|
Hum. Molec. Genet. 17: 1214-1221, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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[<a href="https://doi.org/10.1093/hmg/ddn029" target="_blank">Full Text</a>]
|
|
|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Carrie1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carrie, A., Piccolo, F., Leturcq, F., de Toma, C., Azibi, K., Beldjord, C., Vallat, J.-M., Merlini, L., Voit, T., Sewry, C., Urtizberea, J. A., Romero, N., Tome, F. M. S., Fardeau, M., Sunada, Y., Campbell, K. P., Kaplan, J.-C., Jeanpierre, M.
|
|
<strong>Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).</strong>
|
|
J. Med. Genet. 34: 470-475, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9192266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.34.6.470" target="_blank">Full Text</a>]
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</li>
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|
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|
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|
|
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|
|
Coral-Vazquez, R., Cohn, R. D., Moore, S. A., Hill, J. A., Weiss, R. M., Davisson, R. L., Straub, V., Barresi, R., Bansal, D., Hrstka, R. F., Williamson, R., Campbell, K. P.
|
|
<strong>Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.</strong>
|
|
Cell 98: 465-474, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10481911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10481911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10481911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/s0092-8674(00)81975-3" target="_blank">Full Text</a>]
|
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|
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|
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|
|
<div class="">
|
|
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|
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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://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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|
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[<a href="https://doi.org/10.1093/hmg/ddi072" target="_blank">Full Text</a>]
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|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Kawai1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kawai, H., Akaike, M., Endo, T., Adachi, K., Inui, T., Mitsui, T., Kashiwagi, S., Fujiwara, T., Okuno, S., Shin, S., Miyoshi, K., Campbell, K. P., Yamada, H., Shimizu, T., Matsumura, K., Saito, S.
|
|
<strong>Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.</strong>
|
|
J. Clin. Invest. 96: 1202-1207, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657792" 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/10.1172/JCI118152" target="_blank">Full Text</a>]
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
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<a id="Kobuke2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobuke, K., Piccolo, F., Garringer, K. W., Moore, S. A., Sweezer, E., Yang, B., Campbell, K. P.
|
|
<strong>A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.</strong>
|
|
Hum. Molec. Genet. 17: 1201-1213, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252746[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=18252746" 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/ddn009" target="_blank">Full Text</a>]
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|
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|
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<li>
|
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<a id="Matsumura1992" class="mim-anchor"></a>
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|
|
Matsumura, K., Tome, F. M. S., Collin, H., Azibi, K., Chaouch, M., Kaplan, J.-C., Fardeau, M., Campbell, K. P.
|
|
<strong>Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.</strong>
|
|
Nature 359: 320-322, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1406935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1406935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1406935" 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/10.1038/359320a0" target="_blank">Full Text</a>]
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</li>
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|
|
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<li>
|
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<a id="10" class="mim-anchor"></a>
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|
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<div class="">
|
|
<p class="mim-text-font">
|
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McNally, E. M., Yoshida, M., Mizuno, Y., Ozawa, E., Kunkel, L. M.
|
|
<strong>Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 9690-9694, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7937874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7937874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7937874" 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/10.1073/pnas.91.21.9690" target="_blank">Full Text</a>]
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|
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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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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Piccolo1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<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.
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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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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Roberds1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Roberds, S. L., Anderson, R. D., Ibraghimov-Beskrovnaya, O., Campbell, K. P.
|
|
<strong>Primary structure and muscle-specific expression on the 50-kDa dystrophin-associated glycoprotein (adhalin).</strong>
|
|
J. Biol. Chem. 268: 23739-23742, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8226900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8226900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8226900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Roberds1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.</strong>
|
|
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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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Romero1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<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.
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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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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Schara2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schara, U., Gencik, M., Mortier, J., Langen, M., Gencikova, A., Epplen, J. T., Mortier, W.
|
|
<strong>Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.</strong>
|
|
Europ. J. Pediat. 160: 452-453, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11475588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11475588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11475588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004310100744" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Trabelsi2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>Revised spectrum of mutations in sarcoglycanopathies.</strong>
|
|
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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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
Patricia A. Hartz - updated : 2/22/2013
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 9/20/2012<br>Cassandra L. Kniffin - updated : 1/23/2009<br>George E. Tiller - updated : 4/25/2008<br>Cassandra L. Kniffin - reorganized : 9/23/2003<br>Ada Hamosh - updated : 2/13/2002<br>Stylianos E. Antonarakis - updated : 9/1/1999<br>Ada Hamosh - updated : 8/6/1999<br>Victor A. McKusick - updated : 12/10/1998<br>Victor A. McKusick - updated : 7/1/1998<br>Victor A. McKusick - updated : 9/12/1997<br>Orest Hurko - updated : 2/6/1996<br>Orest Hurko - updated : 8/15/1995
|
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 9/16/1994
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/27/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/26/2018<br>carol : 09/25/2018<br>carol : 03/04/2015<br>mcolton : 3/3/2015<br>carol : 2/23/2015<br>carol : 11/6/2014<br>carol : 4/11/2013<br>mgross : 2/22/2013<br>terry : 2/22/2013<br>carol : 9/24/2012<br>ckniffin : 9/20/2012<br>joanna : 2/11/2011<br>wwang : 1/30/2009<br>ckniffin : 1/23/2009<br>ckniffin : 5/29/2008<br>wwang : 4/29/2008<br>terry : 4/25/2008<br>terry : 4/4/2005<br>carol : 10/3/2003<br>carol : 9/23/2003<br>ckniffin : 9/22/2003<br>alopez : 3/13/2002<br>alopez : 2/14/2002<br>terry : 2/13/2002<br>alopez : 11/8/1999<br>psherman : 9/3/1999<br>psherman : 9/2/1999<br>mgross : 9/1/1999<br>alopez : 8/6/1999<br>carol : 8/3/1999<br>carol : 10/14/1998<br>terry : 10/8/1998<br>carol : 9/21/1998<br>terry : 9/17/1998<br>carol : 7/14/1998<br>dholmes : 7/13/1998<br>terry : 7/1/1998<br>carol : 6/26/1998<br>carol : 6/26/1998<br>terry : 6/4/1998<br>mark : 9/19/1997<br>terry : 9/12/1997<br>joanna : 6/23/1997<br>alopez : 4/4/1997<br>alopez : 4/2/1997<br>terry : 4/1/1997<br>terry : 10/16/1996<br>carol : 6/22/1996<br>terry : 4/15/1996<br>mark : 3/21/1996<br>terry : 3/7/1996<br>mark : 2/6/1996<br>mark : 2/6/1996<br>terry : 1/31/1996<br>mark : 1/21/1996<br>mark : 10/31/1995<br>terry : 6/7/1995<br>mark : 6/1/1995<br>mark : 4/24/1995
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600119
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SARCOGLYCAN, ALPHA; SGCA
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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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<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">
|
|
ADHALIN; ADL<br />
|
|
DYSTROGLYCAN 2; DAG2<br />
|
|
DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 50-KD<br />
|
|
50-DAG
|
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SGCA</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 715340002;
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<strong>ICD10CM:</strong> G71.0341;
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</span>
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</p>
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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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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 17q21.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:50,166,005-50,175,928 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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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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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype 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 small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
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>
|
|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
|
Inheritance
|
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
17q21.33
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608099
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</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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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The dystrophin-glycoprotein complex (DGC) comprises a group of proteins that are critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Components of the DGC include dystrophin (300377), which is deficient in Duchenne muscular dystrophy (DMD; 310200); syntrophins (e.g., 600026); dystroglycans (128239); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (Roberds et al., 1993). </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Roberds et al. (1993) cloned cDNA encoding 50-DAG from rabbit skeletal muscle. The deduced amino acid sequence of the gene product predicted a 387-amino acid protein with a 17-amino acid signal sequence, 1 transmembrane domain, and 2 potential sites of N-linked glycosylation. Affinity-purified antibodies against rabbit 50-DAG fusion proteins or synthetic peptides specifically recognized a 50-kD protein in skeletal muscle sarcolemma and the 50-kD component of the dystrophin glycoprotein complex. In contrast to dystroglycan, which is expressed in a wide variety of muscle and nonmuscle tissues, 50-DAG was expressed only in skeletal and cardiac muscles and in selected smooth muscles. Roberds et al. (1993) found 50-DAG mRNA in muscle from mdx mice and DMD humans, both with mutations in the dystrophin gene, indicating that the downregulation of this protein in these disease states is probably a posttranslational event. </p><p>Roberds et al. (1994) isolated human adhalin cDNA from a human skeletal muscle library and determined the sequence of the gene. They found that human and rabbit adhalin are 86% identical at the amino acid level. Northern blot analysis showed that human adhalin mRNA was most abundant in skeletal muscle, but also expressed in cardiac muscle, and, at much lower levels, in lung. Adhalin mRNA was not detected in brain. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Roberds et al. (1994) determined that the SGCA gene contains 10 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By PCR applied to a panel of human/rodent somatic cell hybrids and DNAs from cell lines with deletion of various parts of chromosome 17, Roberds et al. (1994) mapped the SGCA gene to 17q12-q21.33. McNally et al. (1994) likewise mapped the SGCA gene to 17q21. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>McNally et al. (1994) reported that adhalin mRNA from cardiac muscle is shorter than that from skeletal muscle and lacks the base sequence encoding the transmembrane domain. They found lower expression of the ADL gene in cardiac muscle, which may explain the less severe cardiac dysfunction in some patients with adhalin-deficient muscular dystrophy (LGMDR3; 608099). The expression of both adhalin splice forms was exclusively restricted to striated muscle, unlike other components of the dystrophin-glycoprotein complex. The authors speculated that the absence of mental retardation in adhalin-deficient muscular dystrophy is most likely explained by the absence of adhalin expression in the brain. </p><p>Matsumura et al. (1992) found a specific deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. The findings suggested that a loss of dystrophin-associated glycoproteins in the sarcolemma is a common denominator in the pathologic processes leading to muscle cell necrosis in various forms of muscular dystrophy. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a large French family with a mild form of adhalin-deficient limb-girdle muscular dystrophy (LGMDR3; 608099), previously symbolized LGMD2D, Romero et al. (1994) identified mutations in the adhalin gene (600119.0001-600119.0002). The family was nonconsanguineous and affected members were compound heterozygotes, with one mutation coming from each parent. In 10 families from Europe and North Africa with LGMD2D, Piccolo et al. (1995) described several additional mutations (null and missense) in the adhalin gene (see, e.g., 600119.0003). Patients with null mutations were the most severely affected. </p><p>Carrie et al. (1997) studied a series of 20 unrelated LGMD2D families with 14 different mutations in the alpha-sarcoglycan gene. Along with the mutations previously reported, this brought their cohort of patients with alpha-sarcoglycanopathy to a total of 31 unrelated patients, carrying 25 different mutations. The missense mutations resided in the extracellular domain of the protein. Five of 15 missense mutations, carried by unrelated subjects on different haplotypes and of widespread geographic origins, account for 58% of the mutated chromosomes with a striking prevalence of the R77C (600119.0003) substitution (32%). The severity of the disease varied strikingly and correlated at least in part with the amount of residual protein and the type of mutation. The recurrent R284C substitution (600119.0005) was associated with a benign disease course. Almost all patients presented with a limb-girdle muscular dystrophy phenotype of variable severity. Neither heart involvement nor mental retardation was present. </p><p>Bartoli et al. (2008) found that SGCA with the R77C mutation was retained in the endoplasmic reticulum (ER), where it formed aggregates. Surface expression of mutant SGCA could be rescued by inhibiting its degradation via proteasome-mediated ER-associated degradation (ERAD) or by inhibiting mannosidase I (MAN1B1; 604346), an ER enzyme that directs misfolded glycoproteins toward ERAD. </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 (608896) 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>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To investigate mechanisms in the pathogenesis of cardiomyopathy associated with mutations of the dystrophin-glycoprotein complex, Coral-Vazquez et al. (1999) analyzed genetically engineered mice deficient for either the Sgca or Sgcd (601411) gene. They found that only Sgcd-null mice developed cardiomyopathy with focal areas of necrosis as the histologic hallmark in cardiac and skeletal muscle. The authors observed absence of the sarcoglycan-sarcospan (SG-SSPN) complex in skeletal and cardiac membranes in both animal models. These data indicated that disruption of the SG-SSPN complex in vascular smooth muscle perturbs vascular function, which initiates cardiomyopathy and exacerbates muscular dystrophy. </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>Kobuke et al. (2008) and Bartoli et al. (2008) independently created mice expressing Sgca with a his77-to-cys (H77C) mutation, corresponding to the common human SGCA mutation R77C (600119.0003). Both groups found that mice homozygous for H77C appeared normal and developed no signs of muscular dystrophy at either the histologic or physiologic levels. Kobuke et al. (2008) found that human SGCA with the R77C mutation was correctly processed and transported to the sarcolemma of Sgca -/- mice, where it rescued the dystrophic phenotype of Sgca -/- mice. Kobuke et al. (2008) and Bartoli et al. (2008) concluded that SGCA is subject to species-specific trafficking. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>The 50-kD dystrophin-associated glycoprotein was named adhalin from the Arabic adhal (muscle). As the first component of the sarcoglycan complex to be identified, adhalin is also referred to as alpha-sarcoglycan. Beta-sarcoglycan (600900) was the second component to be identified.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SGCA, ARG98HIS
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<br />
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SNP: rs137852621,
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gnomAD: rs137852621,
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|
|
ClinVar: RCV000010042, RCV000725507, RCV002307361
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a nonconsanguineous French family with limb-girdle muscular dystrophy type 2D (LGMDR3; 608099), Roberds et al. (1994) found that affected members were compound heterozygotes for a maternally derived arg98-to-his (R98H) mutation and a paternally derived val175-to-ala (V175A) mutation (600119.0002). </p>
|
|
</span>
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</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
SGCA, VAL175ALA
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<br />
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|
|
SNP: rs137852622,
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|
|
ClinVar: RCV000010043
|
|
|
|
|
|
</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the val175-to-ala (V175A) mutation in the SGCA gene that was found in compound heterozygous state in patients with limb-girdle muscular dystrophy type 2D (LGMDR3; 608099) by Roberds et al. (1994), see 600119.0001. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCA, ARG77CYS
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|
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|
<br />
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|
|
SNP: rs28933693,
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|
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|
|
gnomAD: rs28933693,
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|
|
|
|
|
ClinVar: RCV000010044, RCV000077937, RCV000779225, RCV001813971, RCV003987316
|
|
|
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German family with Duchenne-like muscular dystrophy of intermediate severity (LGMDR3; 608099), Piccolo et al. (1995) found a homozygous CGC-to-TGC transition in exon 3 of the SGCA gene, resulting in an arg77-to-cys (R77C) substitution. The same mutation was found in the heterozygous state in 2 apparently unrelated French families in which the affected individuals were compound heterozygotes. In a note added in proof, Piccolo et al. (1995) commented that out of a total of 46 mutated chromosomes from unrelated families in Europe and the US, 11 had the R77C mutation. Four patients were homozygous for the mutation. </p><p>Passos Bueno et al. (1995) identified the same mutation in 3 Brazilian families with a relatively mild form of LGMD2D. </p><p>In a Japanese patient with autosomal recessive childhood-onset muscular dystrophy from a consanguineous family, Kawai et al. (1995) found homozygosity for the R77C mutation. Muscle biopsy showed complete absence of adhalin. </p><p>Bartoli et al. (2008) found that SGCA with the R77C mutation was retained in the endoplasmic reticulum (ER), where it formed aggregates. Surface expression of mutant SGCA could be rescued by inhibiting its degradation via proteasome-mediated ER-associated degradation (ERAD) or by inhibiting mannosidase I (MAN1B1; 604346), an ER enzyme that directs misfolded glycoproteins toward ERAD. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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|
<div>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCA, 15-BP INS, GLU137GLY
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs397514451,
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|
|
|
|
|
|
|
ClinVar: RCV000010045
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kawai et al. (1995) reported homozygosity for a double mutation in the ADL gene in a Japanese family in which 5 individuals in 2 sibships over 2 successive generations were affected with limb-girdle muscular dystrophy type 2D (LGMDR3; 608099). In the case of each sibship, the parents were related as first cousins. The mutation consisted of a 410A-G transition, resulting in a glu137-to-gly (E137G) substitution. In addition, there was a 15-bp insertion between nucleotides 408 and 409 (between codons 136 and 137), which added 5 amino acids in-frame to the gene product. Muscle biopsy of affected patients showed complete absence of adhalin. The patients did not suffer from severe cardiac dysfunction or mental retardation, which are features of DMD. Indeed, one patient showed no symptoms of cardiac failure, even at 56 years of age. </p>
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|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCA, ARG284CYS
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852623,
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|
|
|
|
|
gnomAD: rs137852623,
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|
|
|
|
|
ClinVar: RCV000010046, RCV000498385, RCV000778108, RCV001194149, RCV001813972
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 40-year-old woman with mild limb-girdle type muscular dystrophy (LGMDR3; 608099) that responded to steroid administration, Angelini et al. (1998) found a homozygous 850C-T change, resulting in an arg284-to-cys (R284C) substitution. Her asymptomatic 35-year-old brother had the same homozygous mutation. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
SGCA, TYR134TER
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<br />
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|
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ClinVar: RCV000010047
|
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|
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 18-year-old Russian patient with limb-girdle muscular dystrophy type 2D (LGMDR3; 608099) who was initially diagnosed with Duchenne muscular dystrophy (310200), Schara et al. (2001) identified compound heterozygosity for a tyr134-to-stop (Y134X) substitution and the R77C mutation (600119.0003) in the SGCA gene. Schara et al. (2001) reinforced the need for molecular genetic analysis to establish the correct diagnosis in patients with limb-girdle muscular dystrophy. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
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|
SGCA, ARG192TER
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|
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<br />
|
|
|
|
SNP: rs387907298,
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|
|
|
gnomAD: rs387907298,
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|
|
|
|
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ClinVar: RCV000030783, RCV000730723, RCV001836716, RCV004998112
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Albanian sibs, born of consanguineous parents, with limb-girdle muscular dystrophy type 2D (LGMDR3; 608099), Babameto-Laku et al. (2011) identified a homozygous 574C-T transition in exon 5 of the SGCA gene, resulting in an arg192-to-ter (R192X) substitution. Each unaffected parent was heterozygous for the mutation. 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 severe enough to clinically suggest Duchenne muscular dystrophy (310200). </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
|
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<li>
|
|
<p class="mim-text-font">
|
|
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: 9585331]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1097-4598(199806)21:6<769::aid-mus9>3.0.co;2-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 22303798]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bartoli, M., Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-Lacaze, N., Perez, N., Udd, B., Danos, O., Richard, I.
|
|
<strong>Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.</strong>
|
|
Hum. Molec. Genet. 17: 1214-1221, 2008.
|
|
|
|
|
|
[PubMed: 18252745]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddn029]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carrie, A., Piccolo, F., Leturcq, F., de Toma, C., Azibi, K., Beldjord, C., Vallat, J.-M., Merlini, L., Voit, T., Sewry, C., Urtizberea, J. A., Romero, N., Tome, F. M. S., Fardeau, M., Sunada, Y., Campbell, K. P., Kaplan, J.-C., Jeanpierre, M.
|
|
<strong>Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).</strong>
|
|
J. Med. Genet. 34: 470-475, 1997.
|
|
|
|
|
|
[PubMed: 9192266]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.34.6.470]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coral-Vazquez, R., Cohn, R. D., Moore, S. A., Hill, J. A., Weiss, R. M., Davisson, R. L., Straub, V., Barresi, R., Bansal, D., Hrstka, R. F., Williamson, R., Campbell, K. P.
|
|
<strong>Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.</strong>
|
|
Cell 98: 465-474, 1999.
|
|
|
|
|
|
[PubMed: 10481911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(00)81975-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 15689353]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddi072]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kawai, H., Akaike, M., Endo, T., Adachi, K., Inui, T., Mitsui, T., Kashiwagi, S., Fujiwara, T., Okuno, S., Shin, S., Miyoshi, K., Campbell, K. P., Yamada, H., Shimizu, T., Matsumura, K., Saito, S.
|
|
<strong>Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.</strong>
|
|
J. Clin. Invest. 96: 1202-1207, 1995.
|
|
|
|
|
|
[PubMed: 7657792]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118152]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobuke, K., Piccolo, F., Garringer, K. W., Moore, S. A., Sweezer, E., Yang, B., Campbell, K. P.
|
|
<strong>A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.</strong>
|
|
Hum. Molec. Genet. 17: 1201-1213, 2008.
|
|
|
|
|
|
[PubMed: 18252746]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddn009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsumura, K., Tome, F. M. S., Collin, H., Azibi, K., Chaouch, M., Kaplan, J.-C., Fardeau, M., Campbell, K. P.
|
|
<strong>Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.</strong>
|
|
Nature 359: 320-322, 1992.
|
|
|
|
|
|
[PubMed: 1406935]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/359320a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McNally, E. M., Yoshida, M., Mizuno, Y., Ozawa, E., Kunkel, L. M.
|
|
<strong>Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 9690-9694, 1994.
|
|
|
|
|
|
[PubMed: 7937874]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.91.21.9690]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 8528203]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.7.1163]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 7663524]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0695-243]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roberds, S. L., Anderson, R. D., Ibraghimov-Beskrovnaya, O., Campbell, K. P.
|
|
<strong>Primary structure and muscle-specific expression on the 50-kDa dystrophin-associated glycoprotein (adhalin).</strong>
|
|
J. Biol. Chem. 268: 23739-23742, 1993.
|
|
|
|
|
|
[PubMed: 8226900]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 8069911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(94)90527-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 7987694]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schara, U., Gencik, M., Mortier, J., Langen, M., Gencikova, A., Epplen, J. T., Mortier, W.
|
|
<strong>Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.</strong>
|
|
Europ. J. Pediat. 160: 452-453, 2001.
|
|
|
|
|
|
[PubMed: 11475588]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004310100744]
|
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</p>
|
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</li>
|
|
|
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<li>
|
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<p class="mim-text-font">
|
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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: 18285821]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2008.9]
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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</div>
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</div>
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</div>
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</div>
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</div>
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</body>
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</html>
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