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<title>
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Entry
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- *601411 - SARCOGLYCAN, DELTA; SGCD
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- OMIM
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</ul>
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<div id="mimSearch" class="hidden-print">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601411</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</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/601411">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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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 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=ENSG00000170624;t=ENST00000337851" 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=6444" 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=601411" 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=ENSG00000170624;t=ENST00000337851" 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_000337,NM_001128209,NM_172244,XM_005265966,XM_005265967,XM_017009724,XM_047417518,XM_047417519,XM_047417520" 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_000337" 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=601411" 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=03246&isoform_id=03246_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/SGCD" 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/1495427,1695857,18088443,21314619,27477101,31873992,119582022,119582023,158259049,189571662,212276471,530381158,530381160,1034645705,1471822338,1471830253,2217356757,2217356759,2217356761,2462603635,2462603637,2462603639,2462603641,2462603643,2462603645" 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/Q92629" 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=6444" 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=ENSG00000170624;t=ENST00000337851" 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=SGCD" 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=SGCD" 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+6444" 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/SGCD" 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:6444" 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/6444" 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=chr5&hgg_gene=ENST00000755060.1&hgg_start=155727832&hgg_end=156767788&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">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:10807" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601411[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=601411[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/ENSG00000170624" 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=SGCD" 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=SGCD" 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=SGCD" 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/SGCD" 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=SGCD&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/PA35718" 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:10807" 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/FBgn0025391.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:1346525" 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/SGCD#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:1346525" 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/6444/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/results?search_type=advanced&omia_id=002122,002211" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6444" 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=WBGene00004790;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-030131-3684" 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">
|
|
<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:6444" 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=SGCD&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>
|
|
<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> 718177001<br />
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<strong>ICD10CM:</strong> G71.0349<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>
|
|
601411
|
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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SARCOGLYCAN, DELTA; SGCD
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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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SGCD" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SGCD</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/5/704?start=-3&limit=10&highlight=704">5q33.2-q33.3</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:155727832-156767788&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'})">5:155,727,832-156,767,788</a> </span>
|
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</em>
|
|
</strong>
|
|
<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>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<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
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=606685,601287" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
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<p>The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; <a href="/entry/300377">300377</a>) and syntrophin (SNTA1; <a href="/entry/601017">601017</a>), the alpha- and beta-dystroglycans (see <a href="/entry/128239">128239</a>), and the sarcoglycans (<a href="#4" class="mim-tip-reference" title="Crosbie, R. H., Lim, L. E., Moore, S. A., Hirano, M., Hays, A. P., Maybaum, S. W., Collin, H., Dovico, S. A., Stolle, C. A., Fardeau, M., Tome, F. M. S., Campbell, K. P. <strong>Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.</strong> Hum. Molec. Genet. 9: 2019-2027, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942431</a>] [<a href="https://doi.org/10.1093/hmg/9.13.2019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942431">Crosbie et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942431" 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="#15" class="mim-tip-reference" title="Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A. A., Papparella, S., Rossi, E., VIglietto, G., Esposito, M. G., Abbondanza, C., Medici, N., Molinari, A. M., Nigro, G., Puca, G. A. <strong>Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.</strong> Hum. Molec. Genet. 5: 1179-1186, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842738</a>] [<a href="https://doi.org/10.1093/hmg/5.8.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8842738">Nigro et al. (1996)</a> identified a fourth member of the sarcoglycan family through expressed sequence tag (EST) database searching and cDNA library screening. The protein, designated delta-sarcoglycan, shows 70% identity at the amino acid level to both the human and rabbit gamma-sarcoglycan (SGCG; <a href="/entry/608896">608896</a>) sequences. <a href="#15" class="mim-tip-reference" title="Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A. A., Papparella, S., Rossi, E., VIglietto, G., Esposito, M. G., Abbondanza, C., Medici, N., Molinari, A. M., Nigro, G., Puca, G. A. <strong>Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.</strong> Hum. Molec. Genet. 5: 1179-1186, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842738</a>] [<a href="https://doi.org/10.1093/hmg/5.8.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8842738">Nigro et al. (1996)</a> reported that delta-sarcoglycan is a putative transmembrane glycoprotein with a small intracellular domain, a single transmembrane hydrophobic domain (amino acids 35 to 59), and a large extracellular C terminus of 231 amino acids. They noted that the extracellular domain of delta-sarcoglycan contains 4 cysteine residues that are a common feature of all sarcoglycans. Northern blot analysis revealed greatest expression in skeletal and heart muscle and weaker expression in smooth muscle. Immunochemical staining revealed that delta-sarcoglycan is localized at the sarcolemma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8842738" 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="Jung, D., Duclos, F., Apostol, B., Straub, V., Lee, J. C., Allamand, V., Venzke, D. P., Sunada, Y., Moomaw, C. R., Leveille, C. J., Slaughter, C. A., Crawford, T. O., McPherson, J. D., Campbell, K. P. <strong>Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.</strong> J. Biol. Chem. 271: 32321-32329, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8943294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8943294</a>] [<a href="https://doi.org/10.1074/jbc.271.50.32321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8943294">Jung et al. (1996)</a> used peptide sequence of purified rabbit skeletal muscle delta-sarcoglycan to search an EST database for homologous human sequences. They identified an EST from a human placenta cDNA library that encodes a 256-amino acid polypeptide representing the full-length coding region of delta-sarcoglycan. In a note added in proof, they stated that the sequence reported by <a href="#15" class="mim-tip-reference" title="Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A. A., Papparella, S., Rossi, E., VIglietto, G., Esposito, M. G., Abbondanza, C., Medici, N., Molinari, A. M., Nigro, G., Puca, G. A. <strong>Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.</strong> Hum. Molec. Genet. 5: 1179-1186, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842738</a>] [<a href="https://doi.org/10.1093/hmg/5.8.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8842738">Nigro et al. (1996)</a> differs in the C-terminal region of their own sequence, suggesting the existence of 2 isoforms of delta-sarcoglycan in skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8842738+8943294" 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 human-rodent hybrid analysis and FISH analysis, <a href="#15" class="mim-tip-reference" title="Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A. A., Papparella, S., Rossi, E., VIglietto, G., Esposito, M. G., Abbondanza, C., Medici, N., Molinari, A. M., Nigro, G., Puca, G. A. <strong>Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.</strong> Hum. Molec. Genet. 5: 1179-1186, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842738</a>] [<a href="https://doi.org/10.1093/hmg/5.8.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8842738">Nigro et al. (1996)</a> localized the SGCD gene to chromosome 5q33. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8842738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Okazaki, Y., Okuizumi, H., Ohsumi, T., Nomura, O., Takada, S., Kamiya, M., Sasaki, N., Matsuda, Y., Nishimura, M., Tagaya, O., Muramatsu, M., Hayashizaki, Y. <strong>A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1-b1 using RLGS spot-mapping.</strong> Nature Genet. 13: 87-90, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673110</a>] [<a href="https://doi.org/10.1038/ng0596-87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673110">Okazaki et al. (1996)</a> mapped the Syrian hamster cardiomyopathy gene to hamster chromosome 9qa2.1-b1 (see 'Animal Model' below). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673110" 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><strong><em>Limb-Girdle Muscular Dystrophy, Autosomal Recessive 6</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Nigro, V., Moreira, E. S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A. A., Passos-Bueno, M. R., Zatz, M. <strong>Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.</strong> Nature Genet. 14: 195-198, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841194</a>] [<a href="https://doi.org/10.1038/ng1096-195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841194">Nigro et al. (1996)</a> identified a homozygous frameshift mutation (<a href="#0001">601411.0001</a>) in the SGCD gene of 8 Brazilian families with limb-girdle muscular dystrophy-6 (LGMDR6; previously symbolized LGMD2F; <a href="/entry/601287">601287</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8841194" 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>Following up on the observation of delta-sarcoglycan mutations in Brazilian muscular dystrophy patients, <a href="#5" class="mim-tip-reference" title="Duggan, D. J., Manchester, D., Stears, K. P., Mathews, D. J., Hart, C., Hoffman, E. P. <strong>Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).</strong> Neurogenetics 1: 49-58, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735275</a>] [<a href="https://doi.org/10.1007/s100480050008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10735275">Duggan et al. (1997)</a> studied Duchenne-like and limb-girdle muscular dystrophy patients who were known not to exhibit gene mutations of dystrophin, alpha-, beta-, or gamma-sarcoglycan. They identified 2 American female patients with novel nonsense mutations of delta-sarcoglycan (<a href="#0002">601411.0002</a> and <a href="#0003">601411.0003</a>). Microsatellite mapping showed likely consanguinity in the first patient through homozygosity for 13 microsatellite loci covering a 38-cM region of chromosome 5. The second patient was heterozygous. Both girls showed clinical symptoms consistent with Duchenne-like muscular dystrophy. <a href="#5" class="mim-tip-reference" title="Duggan, D. J., Manchester, D., Stears, K. P., Mathews, D. J., Hart, C., Hoffman, E. P. <strong>Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).</strong> Neurogenetics 1: 49-58, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735275</a>] [<a href="https://doi.org/10.1007/s100480050008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10735275">Duggan et al. (1997)</a> concluded that delta-sarcoglycan deficiency occurs in multiple ethnic groups. Furthermore, most or all patients showed a deficiency of the entire sarcoglycan complex, adding support to the hypothesis that these proteins function as a tetrameric unit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10735275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected sibs with limb-girdle muscular dystrophy type 2F from a consanguineous family of Arab origin, <a href="#2" class="mim-tip-reference" title="Bauer, R., Hudson, J., Muller, H. D., Sommer, C., Dekomien, G., Bourke, J., Routledge. D., Bushby, K., Klepper, J., Straub, V. <strong>Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?</strong> Europ. J. Hum. Genet. 17: 1148-1153, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19259135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19259135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19259135[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19259135">Bauer et al. (2009)</a> identified homozygosity for a missense mutation in the SGCD gene (A131P; <a href="#0007">601411.0007</a>). The unaffected parents and 4 unaffected sibs, as well as 4 other unaffected family members, were heterozygous for the A131P mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19259135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among an international cohort of 23 patients with a confirmed diagnosis of LGMDR6, <a href="#1" class="mim-tip-reference" title="Alonso-Perez, J., Gonzalez-Quereda, L., Bruno, C., Panicucci, C., Alavi, A., Nafissi, S., Nilipour, Y., Zanoteli, E., Isihi, L. M. A., Melegh, B., Hadzsiev, K., Muelas, N., and 16 others. <strong>Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy.</strong> Brain 145: 596-606, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34515763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34515763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34515763[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/brain/awab301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34515763">Alonso-Perez et al. (2022)</a> identified 13 different pathogenic variants in the SGCD gene, 6 of which had not previously been described. All patients were homozygous for a single variant. Pathogenic variants included 4 frameshift, 3 nonsense, 3 deletions, 2 splicing, and 1 missense mutation. Most (65.2%) pathogenic variants affected the extracellular domain of the protein. <a href="#1" class="mim-tip-reference" title="Alonso-Perez, J., Gonzalez-Quereda, L., Bruno, C., Panicucci, C., Alavi, A., Nafissi, S., Nilipour, Y., Zanoteli, E., Isihi, L. M. A., Melegh, B., Hadzsiev, K., Muelas, N., and 16 others. <strong>Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy.</strong> Brain 145: 596-606, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34515763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34515763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34515763[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/brain/awab301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34515763">Alonso-Perez et al. (2022)</a> classified patients as having residual protein expression or no protein expression based on immunochemistry or immunofluorescence studies on muscle biopsy or type of SGCD gene variant. Patients with residual protein expression had a later disease onset and milder clinical course (e.g., they maintained ambulation for a longer time) than those with no protein expression. No significant differences were seen in the prevalence of cardiac involvement or the need for respiratory support between the 2 groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34515763" 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 consanguineous family of Arab origin in which homozygosity for an A131P mutation in the SGCD gene had been identified in 3 sibs with LGMD2F (<a href="#0007">601411.0007</a>), <a href="#2" class="mim-tip-reference" title="Bauer, R., Hudson, J., Muller, H. D., Sommer, C., Dekomien, G., Bourke, J., Routledge. D., Bushby, K., Klepper, J., Straub, V. <strong>Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?</strong> Europ. J. Hum. Genet. 17: 1148-1153, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19259135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19259135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19259135[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19259135">Bauer et al. (2009)</a> also identified heterozygosity for the S151A mutation in 7 unaffected family members, 4 of whom were compound heterozygous for the S151A and A131P mutations. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb-girdle muscular dystrophy. <a href="#2" class="mim-tip-reference" title="Bauer, R., Hudson, J., Muller, H. D., Sommer, C., Dekomien, G., Bourke, J., Routledge. D., Bushby, K., Klepper, J., Straub, V. <strong>Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?</strong> Europ. J. Hum. Genet. 17: 1148-1153, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19259135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19259135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19259135[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19259135">Bauer et al. (2009)</a> questioned the pathologic relevance of the S151A variant, and of the SGCD gene itself, in dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19259135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Dilated Cardiomyopathy 1L</em></strong></p><p>
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Cardiomyopathy in the hamster is a model of human hereditary cardiomyopathy and is divided into hypertrophic cardiomyopathy (HCM; BIO 14.6 strain) and dilated cardiomyopathy (DCM; TO-2 strain) inbred sublines, both of which descended from the same ancestor and are due to mutations in the gene encoding delta-sarcoglycan (<a href="#18" class="mim-tip-reference" title="Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyo-oka, T., Hanaoka, F. <strong>Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex.</strong> Proc. Nat. Acad. Sci. 94: 13873-13878, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9391120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9391120</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9391120[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/10.1073/pnas.94.25.13873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9391120">Sakamoto et al., 1997</a>; <a href="#14" class="mim-tip-reference" title="Nigro, V., Okazaki, Y., Belsito, A., Piluso, G., Matsuda, Y., Politano, L., Nigro, G., Ventura, C., Abbondanza, C., Molinari, A. M., Acampora, D., Nishimura, M., Hayashizaki, Y., Puca, G. A. <strong>Identification of the Syrian hamster cardiomyopathy gene.</strong> Hum. Molec. Genet. 6: 601-607, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097966</a>] [<a href="https://doi.org/10.1093/hmg/6.4.601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9097966">Nigro et al., 1997</a>). Hypothesizing that DCM is a disease of the cytoskeleton and sarcolemma, <a href="#20" class="mim-tip-reference" title="Tsubata, S., Bowles, K. R., Vatta, M., Zintz, C., Titus, J., Muhonen, L., Bowles, N. E., Towbin, J. A. <strong>Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.</strong> J. Clin. Invest. 106: 655-662, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10974018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10974018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10974018[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/10.1172/JCI9224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10974018">Tsubata et al. (2000)</a> focused on candidate genes whose products are found in these structures. They screened the human SGCD gene in patients with DCM (CMD1L; <a href="/entry/606685">606685</a>) by SSCP analysis and DNA sequencing. Mutations affecting the secondary structure of SGCD were identified in 1 family (S151A; <a href="#0006">601411.0006</a>) and in 2 sporadic cases (K238del; <a href="#0005">601411.0005</a>). Immunofluorescence analysis of myocardium from 1 of these patients demonstrated significant reduction in SGCD staining. No skeletal muscle disease occurred in any of these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10974018+9391120+9097966" 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 BIO14.6 hamster is a widely used model for autosomal recessive cardiomyopathy. These animals die prematurely from progressive myocardial necrosis and heart failure. <a href="#14" class="mim-tip-reference" title="Nigro, V., Okazaki, Y., Belsito, A., Piluso, G., Matsuda, Y., Politano, L., Nigro, G., Ventura, C., Abbondanza, C., Molinari, A. M., Acampora, D., Nishimura, M., Hayashizaki, Y., Puca, G. A. <strong>Identification of the Syrian hamster cardiomyopathy gene.</strong> Hum. Molec. Genet. 6: 601-607, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097966</a>] [<a href="https://doi.org/10.1093/hmg/6.4.601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9097966">Nigro et al. (1997)</a> demonstrated that the cardiomyopathy results from a mutation in the delta-sarcoglycan gene, which maps to the same region as the disorder. Thus, the Syrian hamster cardiomyopathy represents the first animal model identified for human sarcoglycan disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9097966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Holt, K. H., Lim, L. E., Straub, V., Venzke, D. P., Duclos, F., Anderson, R. D., Davidson, B. L., Campbell, K. P. <strong>Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer.</strong> Molec. Cell 1: 841-848, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9660967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9660967</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80083-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9660967">Holt et al. (1998)</a> investigated the feasibility of sarcoglycan gene transfer for LGMD using a recombinant SGCD adenovirus in the BIO14.6 hamster. They demonstrated extensive long-term expression of delta-sarcoglycan and rescue of the entire sarcoglycan complex, as well as restored stable association of alpha-dystroglycan with the sarcolemma. Importantly, muscle fibers expressing delta-sarcoglycan lacked morphological markers of muscular dystrophy and exhibited restored plasma membrane integrity. <a href="#7" class="mim-tip-reference" title="Holt, K. H., Lim, L. E., Straub, V., Venzke, D. P., Duclos, F., Anderson, R. D., Davidson, B. L., Campbell, K. P. <strong>Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer.</strong> Molec. Cell 1: 841-848, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9660967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9660967</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80083-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9660967">Holt et al. (1998)</a> concluded that the sarcoglycan complex is requisite for the maintenance of sarcolemmal integrity, and primary mutations in individual sarcoglycan components can be corrected in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9660967" 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>To investigate mechanisms in the pathogenesis of cardiomyopathy associated with mutations of the dystrophin-glycoprotein complex, <a href="#3" 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 (<a href="/entry/600119">600119</a>) or Sgcd 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. Loss of vascular smooth muscle SG-SSPN complex was only detected in Sgcd-null mice and was associated with irregularities of the coronary vasculature. Administration of a vascular smooth muscle relaxant prevented onset of myocardial necrosis. 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>To examine the long-term in vivo supplement of the normal SGCD gene driven by cytomegalovirus promoter, <a href="#9" class="mim-tip-reference" title="Kawada, T., Nakazawa, M., Nakauchi, S., Yamazaki, K., Shimamoto, R., Urabe, M., Nakata, J., Hemmi, C., Masui, F., Nakajima, T., Suzuki, J.-I., Monahan, J., Sato, H., Masaki, T., Ozawa, K., Toyo-oka, T. <strong>Rescue of hereditary form of dilated cardiomyopathy by rAAV-mediated somatic gene therapy: amelioration of morphological findings, sarcolemmal permeability, cardiac performances, and the prognosis of TO-2 hamsters.</strong> Proc. Nat. Acad. Sci. 99: 901-906, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805334</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11805334[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/10.1073/pnas.022641799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11805334">Kawada et al. (2002)</a> analyzed the pathophysiologic effects of the transgene expression in TO-2 hamster hearts by using recombinant adeno-associated virus vector (rAAV). The transgene preserved sarcolemmal permeability detected in situ by mutual exclusivity between cardiomyocytes taking up intravenously administered Evans blue dye and expressing the SGCD transgene throughout life. The persistent amelioration of sarcolemmal integrity improved wall thickness and the calcification score postmortem. Furthermore, in vivo myocardial contractibility and hemodynamics, measured by echocardiography and cardiac catheterization, respectively, were normalized, especially in the diastolic performance. The survival period of the TO-2 hamsters was prolonged after the transduction of the SGCD gene, and the animals remained active, exceeding life expectancy of animals without transduction of the responsible gene. These results provided the first evidence that somatic gene therapy is promising for human DCM treatment, if the rAAV vector can be justified for clinical use. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11805334" 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 mice, <a href="#11" class="mim-tip-reference" title="Millay, D. P., Sargent, M. A., Osinska, H., Baines, C. P., Barton, E. R., Vuagniaux, G., Sweeney, H. L., Robbins, J., Molkentin, J. D. <strong>Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy.</strong> Nature Med. 14: 442-447, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18345011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18345011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18345011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm1736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18345011">Millay et al. (2008)</a> showed the deletion of the gene encoding cyclophilin D, Ppif (<a href="/entry/604486">604486</a>), rendered mitochondria largely insensitive to the calcium overload-induced swelling associated with a defective sarcolemma, thus reducing myofiber necrosis in 2 distinct models of muscular dystrophy. Mice lacking delta-sarcoglycan (Scgd-null mice) showed markedly less dystrophic disease in both skeletal muscle and heart in the absence of Ppif. Moreover, the premature lethality associated with deletion of Lama2 (<a href="/entry/156225">156225</a>), encoding the alpha-2 chain of laminin-2, was rescued, as were other indices of dystrophic disease. Treatment with the cyclophilin inhibitor Debio-025 similarly reduced mitochondrial swelling and necrotic disease manifestations in mdx mice, a model of Duchenne muscular dystrophy (see <a href="/entry/310200">310200</a>), and in Scgd-null mice. Thus, mitochondrial-dependent necrosis represents a prominent disease mechanism in muscular dystrophy, suggesting that inhibition of cyclophilin D could provide a new pharmacologic treatment strategy for these diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18345011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Li, D., Long, C., Yue, Y., Duan, D. <strong>Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice.</strong> Hum. Molec. Genet. 18: 1209-1220, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19131360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19131360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19131360[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/ddp015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19131360">Li et al. (2009)</a> generated delta-sarcoglycan/dystrophin (DMD; <a href="/entry/300377">300377</a>) double-knockout mice (delta-Dko) in which residual sarcoglycans were completely eliminated from the sarcolemma. Utrophin (UTRN; <a href="/entry/128240">128240</a>) levels were increased in these mice but did not mitigate disease. The clinical manifestation of delta-Dko mice was worse than that of mdx mice. They showed characteristic dystrophic signs, body emaciation, macrophage infiltration, decreased life span, less absolute muscle force, and greater susceptibility to contraction-induced injury. <a href="#10" class="mim-tip-reference" title="Li, D., Long, C., Yue, Y., Duan, D. <strong>Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice.</strong> Hum. Molec. Genet. 18: 1209-1220, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19131360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19131360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19131360[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/ddp015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19131360">Li et al. (2009)</a> suggested that subphysiologic sarcoglycan expression may play a role in ameliorating muscle disease in mdx mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19131360" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/601411" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601411[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<strong>.0001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</strong>
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SGCD, 1-BP DEL, 656C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1369919728 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1369919728;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=rs1369919728" 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=rs1369919728" 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=RCV000008649 OR RCV004566696" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008649, RCV004566696" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008649...</a>
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<p><a href="#13" class="mim-tip-reference" title="Nigro, V., Moreira, E. S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A. A., Passos-Bueno, M. R., Zatz, M. <strong>Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.</strong> Nature Genet. 14: 195-198, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841194</a>] [<a href="https://doi.org/10.1038/ng1096-195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841194">Nigro et al. (1996)</a> identified a homozygous deletion of nucleotide 656 in exon 7 of the delta-sarcoglycan gene (<a href="#0001">601411.0001</a>) in 8 patients from 4 Brazilian families with limb-girdle muscular dystrophy type 2F (LGMDR6; <a href="/entry/601287">601287</a>). They reported that this deletion produces a frameshift resulting in premature termination of the translatable protein after 5 codons. <a href="#13" class="mim-tip-reference" title="Nigro, V., Moreira, E. S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A. A., Passos-Bueno, M. R., Zatz, M. <strong>Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.</strong> Nature Genet. 14: 195-198, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841194</a>] [<a href="https://doi.org/10.1038/ng1096-195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841194">Nigro et al. (1996)</a> reported that this mutation prevents the translation of the entire 'Cys cluster,' resulting in a truncated protein. Results of immunofluorescence studies on frozen muscle samples indicated that the primary delta-sarcoglycan deficiency leads to disruption of the entire sarcoglycan complex as a primary or secondary effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8841194" 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>.0002 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</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> rs121909295 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909295;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/rs121909295?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=rs121909295" 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=rs121909295" 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=RCV000008650 OR RCV000664788 OR RCV000760352 OR RCV003473058 OR RCV004998079" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008650, RCV000664788, RCV000760352, RCV003473058, RCV004998079" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008650...</a>
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<p>In a 17-year-old girl with limb-girdle muscular dystrophy type 2F (LGMDR6; <a href="/entry/601287">601287</a>), <a href="#5" class="mim-tip-reference" title="Duggan, D. J., Manchester, D., Stears, K. P., Mathews, D. J., Hart, C., Hoffman, E. P. <strong>Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).</strong> Neurogenetics 1: 49-58, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735275</a>] [<a href="https://doi.org/10.1007/s100480050008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10735275">Duggan et al. (1997)</a> identified homozygosity for a 493C-T transition in the SGCD gene, resulting in an arg165-to-stop (R165X) substitution. This patient was adopted, and the parents were not available for study; however, homozygosity for the R165X mutation was confirmed by direct sequence analysis and genotyping of microsatellite markers flanking the delta-sarcoglycan gene. The mutation was not identified in 100 normal chromosomes. The patient had clinical symptoms consistent with a Duchenne-like muscular dystrophy phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10735275" 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 6</strong>
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SGCD, TRP30TER
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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> rs121909296 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909296;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/rs121909296?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=rs121909296" 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=rs121909296" 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=RCV000008651" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008651" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008651</a>
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<p>In a 5-year-old girl with limb-girdle muscular dystrophy type 2F (LGMDR6; <a href="/entry/601287">601287</a>), <a href="#5" class="mim-tip-reference" title="Duggan, D. J., Manchester, D., Stears, K. P., Mathews, D. J., Hart, C., Hoffman, E. P. <strong>Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).</strong> Neurogenetics 1: 49-58, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735275</a>] [<a href="https://doi.org/10.1007/s100480050008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10735275">Duggan et al. (1997)</a> found heterozygosity for an 89G-A transition in the SGCD gene, resulting in a trp30-to-ter (W30X) substitution. The father was shown to be a carrier of the W30X mutation. The mutation was not identified in 100 normal chromosomes. A second mutant allele was not identified despite sequencing of the entire coding sequence. The patient had clinical symptoms consistent with a Duchenne-like muscular dystrophy phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10735275" 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>.0004 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</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">rs121909297 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909297;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=rs121909297" 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=rs121909297" 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=RCV000008652 OR RCV004566697" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008652, RCV004566697" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008652...</a>
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<p><a href="#12" class="mim-tip-reference" title="Moreira, E. S., Vainzof, M., Marie, S. K., Nigro, V., Zatz, M., Passos-Bueno, M. R. <strong>A first missense mutation in the delta-sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.</strong> J. Med. Genet. 35: 951-953, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832045</a>] [<a href="https://doi.org/10.1136/jmg.35.11.951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832045">Moreira et al. (1998)</a> reported a homozygous C-to-A transversion at position 784 of the SGCD gene, causing a glu262-to-lys substitution of the translated protein in a girl with limb-girdle muscular dystrophy type 2F (LGMDR6; <a href="/entry/601287">601287</a>). The phenotype was as severe as that presented by other LGMD2F patients with truncating mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9832045" 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>.0005 CARDIOMYOPATHY, DILATED, 1L</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">rs397517924 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397517924;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=rs397517924" 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=rs397517924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 presumably unrelated patients with dilated cardiomyopathy (CMD1L; <a href="/entry/606685">606685</a>), <a href="#20" class="mim-tip-reference" title="Tsubata, S., Bowles, K. R., Vatta, M., Zintz, C., Titus, J., Muhonen, L., Bowles, N. E., Towbin, J. A. <strong>Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.</strong> J. Clin. Invest. 106: 655-662, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10974018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10974018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10974018[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/10.1172/JCI9224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10974018">Tsubata et al. (2000)</a> identified a 3-bp deletion, either a deletion of AGA at nucleotide 710 or a deletion of GAA at nucleotide 711, in exon 9p of the SGCD gene. The deletion resulted in the loss of a codon encoding lysine at position 238. A screening of 200 control individuals as well as the phenotypically normal parents of these children failed to identify the same abnormality. Deletion of lys238 was predicted to result in a change in the secondary structure of SGCD in which the folding of the protein is disrupted, consistent with a disease-causing mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10974018" 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> rs121909298 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909298;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/rs121909298?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=rs121909298" 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=rs121909298" 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=RCV000008654 OR RCV000041407 OR RCV000548096 OR RCV000681610 OR RCV000725810 OR RCV002490339" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008654, RCV000041407, RCV000548096, RCV000681610, RCV000725810, RCV002490339" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008654...</a>
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<p><strong><em>Dilated Cardiomyopathy 1L</em></strong></p><p>
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<a href="#20" class="mim-tip-reference" title="Tsubata, S., Bowles, K. R., Vatta, M., Zintz, C., Titus, J., Muhonen, L., Bowles, N. E., Towbin, J. A. <strong>Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.</strong> J. Clin. Invest. 106: 655-662, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10974018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10974018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10974018[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/10.1172/JCI9224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10974018">Tsubata et al. (2000)</a> identified a heterozygous 451T-G transversion in exon 6 of the SGCD gene, resulting in a ser151-to-ala (S151A) substitution, in a family with dilated cardiomyopathy (CMD1L; <a href="/entry/606685">606685</a>) in 3 generations. The grandfather died suddenly with congestive heart failure at the age of 38 years. Two daughters died suddenly with congestive heart failure at ages 14 years and 36 years. The second of these daughters had 2 sons, 1 of whom died suddenly at age 17 with congestive heart failure, whereas the other underwent cardiac transplantation at the age of 21 years. The S151A mutation was not detected in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10974018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Limb-Girdle Muscular Dystrophy, Autosomal Recessive 6, Digenic</em></strong></p><p>
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<a href="#19" 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 a heterozygous S151A mutation in a patient with autosomal recessive limb-girdle muscular dystrophy (LGMDR6; <a href="/entry/601287">601287</a>). He was also found to carry a heterozygous partial duplication of exon 1 of the SGCB gene (<a href="/entry/600900">600900</a>), which is responsible for LGMD2E (LGMDR4; <a href="/entry/604286">604286</a>), although the consequence of the variant on SGCB production was unknown. However, <a href="#19" 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> suggested that this patient had 'double heterozygosity,' or digenic inheritance. The patient showed muscle weakness at age 3 years, complicated by cardiomyopathy at age 13 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a consanguineous family of Arab origin, in which homozygosity for an A131P mutation (<a href="#0007">601411.0007</a>) in the SGCD gene had been identified in 3 sibs with LGMD2F, <a href="#2" class="mim-tip-reference" title="Bauer, R., Hudson, J., Muller, H. D., Sommer, C., Dekomien, G., Bourke, J., Routledge. D., Bushby, K., Klepper, J., Straub, V. <strong>Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?</strong> Europ. J. Hum. Genet. 17: 1148-1153, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19259135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19259135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19259135[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19259135">Bauer et al. (2009)</a> also identified heterozygosity for the S151A mutation in 7 unaffected family members, 4 of whom were compound heterozygous for the S151A and A131P mutations. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb-girdle muscular dystrophy. <a href="#2" class="mim-tip-reference" title="Bauer, R., Hudson, J., Muller, H. D., Sommer, C., Dekomien, G., Bourke, J., Routledge. D., Bushby, K., Klepper, J., Straub, V. <strong>Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?</strong> Europ. J. Hum. Genet. 17: 1148-1153, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19259135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19259135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19259135[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19259135">Bauer et al. (2009)</a> questioned the pathologic relevance of the S151A variant, and of the SGCD gene itself, in dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19259135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Mouse Model</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Heydemann, A., Demonbreun, A., Hadhazy, M., Earley, J. U., McNally, E. M. <strong>Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes.</strong> Hum. Molec. Genet. 16: 355-363, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17164264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17164264</a>] [<a href="https://doi.org/10.1093/hmg/ddl453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17164264">Heydemann et al. (2007)</a> developed several lines of transgenic mice that overexpressed human SGCD with the S151A mutation specifically in heart. All transgenic mouse lines demonstrated elevated prenatal or perinatal lethality, and surviving animals suffered cardiomyopathy and sudden death at a young age. Nontransgenic control mice expressed wildtype Sgcd only at the cardiomyocyte plasma membrane. However, S151A-SGCD transgenic mice expressed mutant SGCD in cardiomyocyte nuclei and showed partial nuclear mislocalization of other sarcoglycan subunits. In addition, lamin A/C (LMNA; <a href="/entry/150330">150330</a>) and emerin (EMD; <a href="/entry/300384">300384</a>) mislocalized from the nuclear periphery and nuclear membrane, respectively, to a more generalized nuclear distribution in close proximity to mutant SGCD. <a href="#6" class="mim-tip-reference" title="Heydemann, A., Demonbreun, A., Hadhazy, M., Earley, J. U., McNally, E. M. <strong>Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes.</strong> Hum. Molec. Genet. 16: 355-363, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17164264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17164264</a>] [<a href="https://doi.org/10.1093/hmg/ddl453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17164264">Heydemann et al. (2007)</a> concluded that the S151A mutation acts in a dominant-negative manner to produce protein trafficking defects that disrupt nuclear localization of lamin A/C, emerin, and plasma membrane sarcoglycan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17164264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By homologous recombination, <a href="#17" class="mim-tip-reference" title="Rutschow, D., Bauer, R., Gohringer, C., Bekeredjian, R., Schinkel, S., Straub, V., Koenen, M., Weichenhan, D., Katus, H. A., Muller, O. J. <strong>S151A delta-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.</strong> Europ. J. Hum. Genet. 22: 119-125, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23695275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23695275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23695275[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2013.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23695275">Rutschow et al. (2014)</a> generated a knockin mouse model of the Sgcd S151A mutation. TaqMan assay demonstrated that the mutant allele was expressed at approximately 4% of wildtype allele. Heterozygous S151A knockin mice developed a rather mild cardiomyopathy phenotype, with a slight but significant increase in heart-to-body-weight ratio suggesting mild cardiac enlargement. In physical stress testing, mutant mice showed significantly reduced cumulative running distance compared to wildtype but had preserved myocardial contractility, absence of histopathologic alterations, and normal life expectancy. Myocardial expression of S151A restored cardiac function in Sgcd-null mice, but unlike wildtype Sgcd, it did not completely prevent histopathologic changes. <a href="#17" class="mim-tip-reference" title="Rutschow, D., Bauer, R., Gohringer, C., Bekeredjian, R., Schinkel, S., Straub, V., Koenen, M., Weichenhan, D., Katus, H. A., Muller, O. J. <strong>S151A delta-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.</strong> Europ. J. Hum. Genet. 22: 119-125, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23695275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23695275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23695275[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2013.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23695275">Rutschow et al. (2014)</a> concluded that the S151A mutation causes a mild, subclinical cardiomyopathy phenotype that might be overlooked in patients carrying the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23695275" 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">rs267607045 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607045;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=rs267607045" 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=rs267607045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected sibs with limb-girdle muscular dystrophy type 2F (LGMDR6; <a href="/entry/601287">601287</a>) from a consanguineous family of Arab origin, <a href="#2" class="mim-tip-reference" title="Bauer, R., Hudson, J., Muller, H. D., Sommer, C., Dekomien, G., Bourke, J., Routledge. D., Bushby, K., Klepper, J., Straub, V. <strong>Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?</strong> Europ. J. Hum. Genet. 17: 1148-1153, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19259135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19259135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19259135[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19259135">Bauer et al. (2009)</a> identified homozygosity for a 391C-G transversion in exon 6 of the SGCD gene, resulting in an ala131-to-pro (A131P) substitution. The unaffected parents and 4 unaffected sibs, as well as 4 other unaffected family members, were heterozygous for the A131P mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19259135" 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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Bauer, R., Hudson, J., Muller, H. D., Sommer, C., Dekomien, G., Bourke, J., Routledge. D., Bushby, K., Klepper, J., Straub, V.
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<strong>Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?</strong>
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[<a href="https://doi.org/10.1038/ejhg.2009.17" target="_blank">Full Text</a>]
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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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[<a href="https://doi.org/10.1093/hmg/9.13.2019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.022641799" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp015" target="_blank">Full Text</a>]
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<strong>Identification of the Syrian hamster cardiomyopathy gene.</strong>
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Hum. Molec. Genet. 6: 601-607, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097966</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9097966" 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/6.4.601" 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="Nigro1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A. A., Papparella, S., Rossi, E., VIglietto, G., Esposito, M. G., Abbondanza, C., Medici, N., Molinari, A. M., Nigro, G., Puca, G. A.
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|
<strong>Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.</strong>
|
|
Hum. Molec. Genet. 5: 1179-1186, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8842738" 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/5.8.1179" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Okazaki1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Okazaki, Y., Okuizumi, H., Ohsumi, T., Nomura, O., Takada, S., Kamiya, M., Sasaki, N., Matsuda, Y., Nishimura, M., Tagaya, O., Muramatsu, M., Hayashizaki, Y.
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|
<strong>A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1-b1 using RLGS spot-mapping.</strong>
|
|
Nature Genet. 13: 87-90, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673110" 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/ng0596-87" 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="Rutschow2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rutschow, D., Bauer, R., Gohringer, C., Bekeredjian, R., Schinkel, S., Straub, V., Koenen, M., Weichenhan, D., Katus, H. A., Muller, O. J.
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<strong>S151A delta-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.</strong>
|
|
Europ. J. Hum. Genet. 22: 119-125, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23695275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23695275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23695275[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=23695275" 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.2013.97" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Sakamoto1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyo-oka, T., Hanaoka, F.
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<strong>Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 13873-13878, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9391120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9391120</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9391120[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=9391120" 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.94.25.13873" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="19" 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.
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<strong>Revised spectrum of mutations in sarcoglycanopathies.</strong>
|
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Europ. J. Hum. Genet. 16: 793-803, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.9" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Tsubata2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsubata, S., Bowles, K. R., Vatta, M., Zintz, C., Titus, J., Muhonen, L., Bowles, N. E., Towbin, J. A.
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<strong>Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.</strong>
|
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J. Clin. Invest. 106: 655-662, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10974018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10974018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10974018[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=10974018" 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/JCI9224" 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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Sonja A. Rasmussen - updated : 07/20/2022
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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">
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Marla J. F. O'Neill - updated : 2/16/2015<br>Patricia A. Hartz - updated : 6/25/2010<br>Marla J. F. O'Neill - updated : 1/27/2010<br>George E. Tiller - updated : 10/27/2009<br>Cassandra L. Kniffin - updated : 1/23/2009<br>Ada Hamosh - updated : 6/13/2008<br>Victor A. McKusick - updated : 2/8/2002<br>Victor A. McKusick - updated : 2/6/2002<br>Stylianos E. Antonarakis - updated : 9/1/1999<br>Michael J. Wright - updated : 2/12/1999<br>Stylianos E. Antonarakis - updated : 2/2/1999<br>Victor A. McKusick - updated : 9/10/1997<br>Mark H. Paalman - updated : 5/28/1997<br>Victor A. McKusick - updated : 4/25/1997<br>Moyra Smith - updated : 10/2/1996
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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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Moyra Smith : 9/3/1996
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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 : 11/28/2023
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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 : 07/25/2022<br>alopez : 07/20/2022<br>carol : 05/11/2022<br>carol : 09/25/2018<br>carol : 03/27/2018<br>carol : 08/17/2015<br>alopez : 2/19/2015<br>mcolton : 2/16/2015<br>carol : 9/16/2013<br>mgross : 6/28/2010<br>terry : 6/25/2010<br>carol : 2/16/2010<br>wwang : 1/29/2010<br>terry : 1/27/2010<br>wwang : 11/11/2009<br>terry : 10/27/2009<br>wwang : 1/30/2009<br>ckniffin : 1/23/2009<br>alopez : 6/13/2008<br>terry : 4/5/2005<br>ckniffin : 9/10/2004<br>ckniffin : 9/3/2004<br>ckniffin : 9/3/2004<br>cwells : 11/19/2003<br>mgross : 2/12/2002<br>mgross : 2/12/2002<br>terry : 2/8/2002<br>terry : 2/6/2002<br>mgross : 9/1/1999<br>alopez : 4/9/1999<br>mgross : 3/2/1999<br>mgross : 3/1/1999<br>terry : 2/12/1999<br>carol : 2/2/1999<br>carol : 6/26/1998<br>terry : 9/16/1997<br>terry : 9/10/1997<br>alopez : 6/2/1997<br>mark : 5/28/1997<br>mark : 5/28/1997<br>alopez : 4/28/1997<br>alopez : 4/25/1997<br>alopez : 4/25/1997<br>terry : 4/22/1997<br>mark : 1/8/1997<br>terry : 12/18/1996<br>terry : 10/2/1996<br>mark : 10/2/1996<br>randy : 9/3/1996
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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> 601411
|
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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, DELTA; SGCD
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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-text-font">
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<strong><em>HGNC Approved Gene Symbol: SGCD</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> 718177001;
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<strong>ICD10CM:</strong> G71.0349;
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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: 5q33.2-q33.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:155,727,832-156,767,788 </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">
|
|
<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>
|
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<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>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
|
5q33.2-q33.3
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Cardiomyopathy, dilated, 1L
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
606685
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 6
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601287
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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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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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; 300377) and syntrophin (SNTA1; 601017), the alpha- and beta-dystroglycans (see 128239), and the sarcoglycans (Crosbie et al., 2000). </p>
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<br />
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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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<span class="mim-text-font">
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<p>Nigro et al. (1996) identified a fourth member of the sarcoglycan family through expressed sequence tag (EST) database searching and cDNA library screening. The protein, designated delta-sarcoglycan, shows 70% identity at the amino acid level to both the human and rabbit gamma-sarcoglycan (SGCG; 608896) sequences. Nigro et al. (1996) reported that delta-sarcoglycan is a putative transmembrane glycoprotein with a small intracellular domain, a single transmembrane hydrophobic domain (amino acids 35 to 59), and a large extracellular C terminus of 231 amino acids. They noted that the extracellular domain of delta-sarcoglycan contains 4 cysteine residues that are a common feature of all sarcoglycans. Northern blot analysis revealed greatest expression in skeletal and heart muscle and weaker expression in smooth muscle. Immunochemical staining revealed that delta-sarcoglycan is localized at the sarcolemma. </p><p>Jung et al. (1996) used peptide sequence of purified rabbit skeletal muscle delta-sarcoglycan to search an EST database for homologous human sequences. They identified an EST from a human placenta cDNA library that encodes a 256-amino acid polypeptide representing the full-length coding region of delta-sarcoglycan. In a note added in proof, they stated that the sequence reported by Nigro et al. (1996) differs in the C-terminal region of their own sequence, suggesting the existence of 2 isoforms of delta-sarcoglycan in skeletal muscle. </p>
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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 human-rodent hybrid analysis and FISH analysis, Nigro et al. (1996) localized the SGCD gene to chromosome 5q33. </p><p>Okazaki et al. (1996) mapped the Syrian hamster cardiomyopathy gene to hamster chromosome 9qa2.1-b1 (see 'Animal Model' below). </p>
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</span>
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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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<span class="mim-text-font">
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<p><strong><em>Limb-Girdle Muscular Dystrophy, Autosomal Recessive 6</em></strong></p><p>
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Nigro et al. (1996) identified a homozygous frameshift mutation (601411.0001) in the SGCD gene of 8 Brazilian families with limb-girdle muscular dystrophy-6 (LGMDR6; previously symbolized LGMD2F; 601287). </p><p>Following up on the observation of delta-sarcoglycan mutations in Brazilian muscular dystrophy patients, Duggan et al. (1997) studied Duchenne-like and limb-girdle muscular dystrophy patients who were known not to exhibit gene mutations of dystrophin, alpha-, beta-, or gamma-sarcoglycan. They identified 2 American female patients with novel nonsense mutations of delta-sarcoglycan (601411.0002 and 601411.0003). Microsatellite mapping showed likely consanguinity in the first patient through homozygosity for 13 microsatellite loci covering a 38-cM region of chromosome 5. The second patient was heterozygous. Both girls showed clinical symptoms consistent with Duchenne-like muscular dystrophy. Duggan et al. (1997) concluded that delta-sarcoglycan deficiency occurs in multiple ethnic groups. Furthermore, most or all patients showed a deficiency of the entire sarcoglycan complex, adding support to the hypothesis that these proteins function as a tetrameric unit. </p><p>In 3 affected sibs with limb-girdle muscular dystrophy type 2F from a consanguineous family of Arab origin, Bauer et al. (2009) identified homozygosity for a missense mutation in the SGCD gene (A131P; 601411.0007). The unaffected parents and 4 unaffected sibs, as well as 4 other unaffected family members, were heterozygous for the A131P mutation. </p><p>Among an international cohort of 23 patients with a confirmed diagnosis of LGMDR6, Alonso-Perez et al. (2022) identified 13 different pathogenic variants in the SGCD gene, 6 of which had not previously been described. All patients were homozygous for a single variant. Pathogenic variants included 4 frameshift, 3 nonsense, 3 deletions, 2 splicing, and 1 missense mutation. Most (65.2%) pathogenic variants affected the extracellular domain of the protein. Alonso-Perez et al. (2022) classified patients as having residual protein expression or no protein expression based on immunochemistry or immunofluorescence studies on muscle biopsy or type of SGCD gene variant. Patients with residual protein expression had a later disease onset and milder clinical course (e.g., they maintained ambulation for a longer time) than those with no protein expression. No significant differences were seen in the prevalence of cardiac involvement or the need for respiratory support between the 2 groups. </p><p>In a consanguineous family of Arab origin in which homozygosity for an A131P mutation in the SGCD gene had been identified in 3 sibs with LGMD2F (601411.0007), Bauer et al. (2009) also identified heterozygosity for the S151A mutation in 7 unaffected family members, 4 of whom were compound heterozygous for the S151A and A131P mutations. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb-girdle muscular dystrophy. Bauer et al. (2009) questioned the pathologic relevance of the S151A variant, and of the SGCD gene itself, in dilated cardiomyopathy. </p><p><strong><em>Dilated Cardiomyopathy 1L</em></strong></p><p>
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Cardiomyopathy in the hamster is a model of human hereditary cardiomyopathy and is divided into hypertrophic cardiomyopathy (HCM; BIO 14.6 strain) and dilated cardiomyopathy (DCM; TO-2 strain) inbred sublines, both of which descended from the same ancestor and are due to mutations in the gene encoding delta-sarcoglycan (Sakamoto et al., 1997; Nigro et al., 1997). Hypothesizing that DCM is a disease of the cytoskeleton and sarcolemma, Tsubata et al. (2000) focused on candidate genes whose products are found in these structures. They screened the human SGCD gene in patients with DCM (CMD1L; 606685) by SSCP analysis and DNA sequencing. Mutations affecting the secondary structure of SGCD were identified in 1 family (S151A; 601411.0006) and in 2 sporadic cases (K238del; 601411.0005). Immunofluorescence analysis of myocardium from 1 of these patients demonstrated significant reduction in SGCD staining. No skeletal muscle disease occurred in any of these patients. </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>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>The BIO14.6 hamster is a widely used model for autosomal recessive cardiomyopathy. These animals die prematurely from progressive myocardial necrosis and heart failure. Nigro et al. (1997) demonstrated that the cardiomyopathy results from a mutation in the delta-sarcoglycan gene, which maps to the same region as the disorder. Thus, the Syrian hamster cardiomyopathy represents the first animal model identified for human sarcoglycan disorders. </p><p>Holt et al. (1998) investigated the feasibility of sarcoglycan gene transfer for LGMD using a recombinant SGCD adenovirus in the BIO14.6 hamster. They demonstrated extensive long-term expression of delta-sarcoglycan and rescue of the entire sarcoglycan complex, as well as restored stable association of alpha-dystroglycan with the sarcolemma. Importantly, muscle fibers expressing delta-sarcoglycan lacked morphological markers of muscular dystrophy and exhibited restored plasma membrane integrity. Holt et al. (1998) concluded that the sarcoglycan complex is requisite for the maintenance of sarcolemmal integrity, and primary mutations in individual sarcoglycan components can be corrected in vivo. </p><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 (600119) or Sgcd 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. Loss of vascular smooth muscle SG-SSPN complex was only detected in Sgcd-null mice and was associated with irregularities of the coronary vasculature. Administration of a vascular smooth muscle relaxant prevented onset of myocardial necrosis. 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>To examine the long-term in vivo supplement of the normal SGCD gene driven by cytomegalovirus promoter, Kawada et al. (2002) analyzed the pathophysiologic effects of the transgene expression in TO-2 hamster hearts by using recombinant adeno-associated virus vector (rAAV). The transgene preserved sarcolemmal permeability detected in situ by mutual exclusivity between cardiomyocytes taking up intravenously administered Evans blue dye and expressing the SGCD transgene throughout life. The persistent amelioration of sarcolemmal integrity improved wall thickness and the calcification score postmortem. Furthermore, in vivo myocardial contractibility and hemodynamics, measured by echocardiography and cardiac catheterization, respectively, were normalized, especially in the diastolic performance. The survival period of the TO-2 hamsters was prolonged after the transduction of the SGCD gene, and the animals remained active, exceeding life expectancy of animals without transduction of the responsible gene. These results provided the first evidence that somatic gene therapy is promising for human DCM treatment, if the rAAV vector can be justified for clinical use. </p><p>In mice, Millay et al. (2008) showed the deletion of the gene encoding cyclophilin D, Ppif (604486), rendered mitochondria largely insensitive to the calcium overload-induced swelling associated with a defective sarcolemma, thus reducing myofiber necrosis in 2 distinct models of muscular dystrophy. Mice lacking delta-sarcoglycan (Scgd-null mice) showed markedly less dystrophic disease in both skeletal muscle and heart in the absence of Ppif. Moreover, the premature lethality associated with deletion of Lama2 (156225), encoding the alpha-2 chain of laminin-2, was rescued, as were other indices of dystrophic disease. Treatment with the cyclophilin inhibitor Debio-025 similarly reduced mitochondrial swelling and necrotic disease manifestations in mdx mice, a model of Duchenne muscular dystrophy (see 310200), and in Scgd-null mice. Thus, mitochondrial-dependent necrosis represents a prominent disease mechanism in muscular dystrophy, suggesting that inhibition of cyclophilin D could provide a new pharmacologic treatment strategy for these diseases. </p><p>Li et al. (2009) generated delta-sarcoglycan/dystrophin (DMD; 300377) double-knockout mice (delta-Dko) in which residual sarcoglycans were completely eliminated from the sarcolemma. Utrophin (UTRN; 128240) levels were increased in these mice but did not mitigate disease. The clinical manifestation of delta-Dko mice was worse than that of mdx mice. They showed characteristic dystrophic signs, body emaciation, macrophage infiltration, decreased life span, less absolute muscle force, and greater susceptibility to contraction-induced injury. Li et al. (2009) suggested that subphysiologic sarcoglycan expression may play a role in ameliorating muscle disease in mdx mice. </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>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">
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<strong>.0001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</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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SGCD, 1-BP DEL, 656C
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<br />
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SNP: rs1369919728,
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ClinVar: RCV000008649, RCV004566696
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Nigro et al. (1996) identified a homozygous deletion of nucleotide 656 in exon 7 of the delta-sarcoglycan gene (601411.0001) in 8 patients from 4 Brazilian families with limb-girdle muscular dystrophy type 2F (LGMDR6; 601287). They reported that this deletion produces a frameshift resulting in premature termination of the translatable protein after 5 codons. Nigro et al. (1996) reported that this mutation prevents the translation of the entire 'Cys cluster,' resulting in a truncated protein. Results of immunofluorescence studies on frozen muscle samples indicated that the primary delta-sarcoglycan deficiency leads to disruption of the entire sarcoglycan complex as a primary or secondary effect. </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>
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<span class="mim-font">
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<strong>.0002 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</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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SGCD, ARG165TER
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<br />
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SNP: rs121909295,
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gnomAD: rs121909295,
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ClinVar: RCV000008650, RCV000664788, RCV000760352, RCV003473058, RCV004998079
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 17-year-old girl with limb-girdle muscular dystrophy type 2F (LGMDR6; 601287), Duggan et al. (1997) identified homozygosity for a 493C-T transition in the SGCD gene, resulting in an arg165-to-stop (R165X) substitution. This patient was adopted, and the parents were not available for study; however, homozygosity for the R165X mutation was confirmed by direct sequence analysis and genotyping of microsatellite markers flanking the delta-sarcoglycan gene. The mutation was not identified in 100 normal chromosomes. The patient had clinical symptoms consistent with a Duchenne-like muscular dystrophy phenotype. </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>
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<span class="mim-font">
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<strong>.0003 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</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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SGCD, TRP30TER
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<br />
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SNP: rs121909296,
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gnomAD: rs121909296,
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ClinVar: RCV000008651
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 5-year-old girl with limb-girdle muscular dystrophy type 2F (LGMDR6; 601287), Duggan et al. (1997) found heterozygosity for an 89G-A transition in the SGCD gene, resulting in a trp30-to-ter (W30X) substitution. The father was shown to be a carrier of the W30X mutation. The mutation was not identified in 100 normal chromosomes. A second mutant allele was not identified despite sequencing of the entire coding sequence. The patient had clinical symptoms consistent with a Duchenne-like muscular dystrophy phenotype. </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>
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<span class="mim-font">
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<strong>.0004 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</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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SGCD, GLU262LYS
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<br />
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SNP: rs121909297,
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ClinVar: RCV000008652, RCV004566697
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Moreira et al. (1998) reported a homozygous C-to-A transversion at position 784 of the SGCD gene, causing a glu262-to-lys substitution of the translated protein in a girl with limb-girdle muscular dystrophy type 2F (LGMDR6; 601287). The phenotype was as severe as that presented by other LGMD2F patients with truncating mutations. </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>
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<span class="mim-font">
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<strong>.0005 CARDIOMYOPATHY, DILATED, 1L</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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SGCD, 3-BP DEL, 710AGA/711GAA
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<br />
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SNP: rs397517924,
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ClinVar: RCV000041410, RCV000172589, RCV000987624, RCV002225076, RCV002477130
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 presumably unrelated patients with dilated cardiomyopathy (CMD1L; 606685), Tsubata et al. (2000) identified a 3-bp deletion, either a deletion of AGA at nucleotide 710 or a deletion of GAA at nucleotide 711, in exon 9p of the SGCD gene. The deletion resulted in the loss of a codon encoding lysine at position 238. A screening of 200 control individuals as well as the phenotypically normal parents of these children failed to identify the same abnormality. Deletion of lys238 was predicted to result in a change in the secondary structure of SGCD in which the folding of the protein is disrupted, consistent with a disease-causing 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>
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<span class="mim-font">
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<strong>.0006 CARDIOMYOPATHY, DILATED, 1L</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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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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SGCD, SER151ALA
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<br />
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SNP: rs121909298,
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gnomAD: rs121909298,
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ClinVar: RCV000008654, RCV000041407, RCV000548096, RCV000681610, RCV000725810, RCV002490339
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p />
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<p><strong><em>Dilated Cardiomyopathy 1L</em></strong></p><p>
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Tsubata et al. (2000) identified a heterozygous 451T-G transversion in exon 6 of the SGCD gene, resulting in a ser151-to-ala (S151A) substitution, in a family with dilated cardiomyopathy (CMD1L; 606685) in 3 generations. The grandfather died suddenly with congestive heart failure at the age of 38 years. Two daughters died suddenly with congestive heart failure at ages 14 years and 36 years. The second of these daughters had 2 sons, 1 of whom died suddenly at age 17 with congestive heart failure, whereas the other underwent cardiac transplantation at the age of 21 years. The S151A mutation was not detected in 200 controls. </p><p><strong><em>Limb-Girdle Muscular Dystrophy, Autosomal Recessive 6, Digenic</em></strong></p><p>
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Trabelsi et al. (2008) identified a heterozygous S151A mutation in a patient with autosomal recessive limb-girdle muscular dystrophy (LGMDR6; 601287). He was also found to carry a heterozygous partial duplication of exon 1 of the SGCB gene (600900), which is responsible for LGMD2E (LGMDR4; 604286), although the consequence of the variant on SGCB production was unknown. However, Trabelsi et al. (2008) suggested that this patient had 'double heterozygosity,' or digenic inheritance. The patient showed muscle weakness at age 3 years, complicated by cardiomyopathy at age 13 years. </p><p>In a consanguineous family of Arab origin, in which homozygosity for an A131P mutation (601411.0007) in the SGCD gene had been identified in 3 sibs with LGMD2F, Bauer et al. (2009) also identified heterozygosity for the S151A mutation in 7 unaffected family members, 4 of whom were compound heterozygous for the S151A and A131P mutations. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb-girdle muscular dystrophy. Bauer et al. (2009) questioned the pathologic relevance of the S151A variant, and of the SGCD gene itself, in dilated cardiomyopathy. </p><p><strong><em>Mouse Model</em></strong></p><p>
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Heydemann et al. (2007) developed several lines of transgenic mice that overexpressed human SGCD with the S151A mutation specifically in heart. All transgenic mouse lines demonstrated elevated prenatal or perinatal lethality, and surviving animals suffered cardiomyopathy and sudden death at a young age. Nontransgenic control mice expressed wildtype Sgcd only at the cardiomyocyte plasma membrane. However, S151A-SGCD transgenic mice expressed mutant SGCD in cardiomyocyte nuclei and showed partial nuclear mislocalization of other sarcoglycan subunits. In addition, lamin A/C (LMNA; 150330) and emerin (EMD; 300384) mislocalized from the nuclear periphery and nuclear membrane, respectively, to a more generalized nuclear distribution in close proximity to mutant SGCD. Heydemann et al. (2007) concluded that the S151A mutation acts in a dominant-negative manner to produce protein trafficking defects that disrupt nuclear localization of lamin A/C, emerin, and plasma membrane sarcoglycan. </p><p>By homologous recombination, Rutschow et al. (2014) generated a knockin mouse model of the Sgcd S151A mutation. TaqMan assay demonstrated that the mutant allele was expressed at approximately 4% of wildtype allele. Heterozygous S151A knockin mice developed a rather mild cardiomyopathy phenotype, with a slight but significant increase in heart-to-body-weight ratio suggesting mild cardiac enlargement. In physical stress testing, mutant mice showed significantly reduced cumulative running distance compared to wildtype but had preserved myocardial contractility, absence of histopathologic alterations, and normal life expectancy. Myocardial expression of S151A restored cardiac function in Sgcd-null mice, but unlike wildtype Sgcd, it did not completely prevent histopathologic changes. Rutschow et al. (2014) concluded that the S151A mutation causes a mild, subclinical cardiomyopathy phenotype that might be overlooked in patients carrying the variant. </p>
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<h4>
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<span class="mim-font">
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<strong>.0007 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6</strong>
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</span>
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</h4>
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SGCD, ALA131PRO
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<br />
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SNP: rs267607045,
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ClinVar: RCV000008656
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<p>In 3 affected sibs with limb-girdle muscular dystrophy type 2F (LGMDR6; 601287) from a consanguineous family of Arab origin, Bauer et al. (2009) identified homozygosity for a 391C-G transversion in exon 6 of the SGCD gene, resulting in an ala131-to-pro (A131P) substitution. The unaffected parents and 4 unaffected sibs, as well as 4 other unaffected family members, were heterozygous for the A131P mutation. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Nigro, V., Moreira, E. S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A. A., Passos-Bueno, M. R., Zatz, M.
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<strong>Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.</strong>
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Nigro, V., Okazaki, Y., Belsito, A., Piluso, G., Matsuda, Y., Politano, L., Nigro, G., Ventura, C., Abbondanza, C., Molinari, A. M., Acampora, D., Nishimura, M., Hayashizaki, Y., Puca, G. A.
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Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A. A., Papparella, S., Rossi, E., VIglietto, G., Esposito, M. G., Abbondanza, C., Medici, N., Molinari, A. M., Nigro, G., Puca, G. A.
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Trabelsi, M., Kavian, N., Daoud, F., Commere, V., Deburgrave, N., Beugnet, C., Llense, S., Barbot, J. C., Vasson, A., Kaplan, J. C., Leturcq, F., Chelly, J.
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<p class="mim-text-font">
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<strong>Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.</strong>
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[PubMed: 10974018]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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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Sonja A. Rasmussen - updated : 07/20/2022<br>Marla J. F. O'Neill - updated : 2/16/2015<br>Patricia A. Hartz - updated : 6/25/2010<br>Marla J. F. O'Neill - updated : 1/27/2010<br>George E. Tiller - updated : 10/27/2009<br>Cassandra L. Kniffin - updated : 1/23/2009<br>Ada Hamosh - updated : 6/13/2008<br>Victor A. McKusick - updated : 2/8/2002<br>Victor A. McKusick - updated : 2/6/2002<br>Stylianos E. Antonarakis - updated : 9/1/1999<br>Michael J. Wright - updated : 2/12/1999<br>Stylianos E. Antonarakis - updated : 2/2/1999<br>Victor A. McKusick - updated : 9/10/1997<br>Mark H. Paalman - updated : 5/28/1997<br>Victor A. McKusick - updated : 4/25/1997<br>Moyra Smith - updated : 10/2/1996
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Creation Date:
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<span class="mim-text-font">
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Moyra Smith : 9/3/1996
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Edit History:
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carol : 11/28/2023<br>carol : 07/25/2022<br>alopez : 07/20/2022<br>carol : 05/11/2022<br>carol : 09/25/2018<br>carol : 03/27/2018<br>carol : 08/17/2015<br>alopez : 2/19/2015<br>mcolton : 2/16/2015<br>carol : 9/16/2013<br>mgross : 6/28/2010<br>terry : 6/25/2010<br>carol : 2/16/2010<br>wwang : 1/29/2010<br>terry : 1/27/2010<br>wwang : 11/11/2009<br>terry : 10/27/2009<br>wwang : 1/30/2009<br>ckniffin : 1/23/2009<br>alopez : 6/13/2008<br>terry : 4/5/2005<br>ckniffin : 9/10/2004<br>ckniffin : 9/3/2004<br>ckniffin : 9/3/2004<br>cwells : 11/19/2003<br>mgross : 2/12/2002<br>mgross : 2/12/2002<br>terry : 2/8/2002<br>terry : 2/6/2002<br>mgross : 9/1/1999<br>alopez : 4/9/1999<br>mgross : 3/2/1999<br>mgross : 3/1/1999<br>terry : 2/12/1999<br>carol : 2/2/1999<br>carol : 6/26/1998<br>terry : 9/16/1997<br>terry : 9/10/1997<br>alopez : 6/2/1997<br>mark : 5/28/1997<br>mark : 5/28/1997<br>alopez : 4/28/1997<br>alopez : 4/25/1997<br>alopez : 4/25/1997<br>terry : 4/22/1997<br>mark : 1/8/1997<br>terry : 12/18/1996<br>terry : 10/2/1996<br>mark : 10/2/1996<br>randy : 9/3/1996
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