3703 lines
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Entry
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- *600900 - SARCOGLYCAN, BETA; SGCB
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600900</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#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/600900">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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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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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000163069;t=ENST00000381431" 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=6443" 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=600900" 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=ENSG00000163069;t=ENST00000381431" 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_000232,XM_047416074,XM_047416075,XM_047416076" 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_000232" 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=600900" 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=02942&isoform_id=02942_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/SGCB" 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/1054895,1065401,1732554,2769564,4506913,13431857,18088408,48145737,54695736,119625834,119625835,158260807,221042888,2217351792,2217351794,2217351796,2462598634,2462598636,2462598638" 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/Q16585" 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=6443" 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=ENSG00000163069;t=ENST00000381431" 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=SGCB" 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=SGCB" 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+6443" 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/SGCB" 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:6443" 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/6443" 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=chr4&hgg_gene=ENST00000381431.10&hgg_start=52020706&hgg_end=52038299&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10806" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/sgcb" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600900[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=600900[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/ENSG00000163069" 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.gwascentral.org/search?q=SGCB" 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=SGCB" 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/SGCB" 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=SGCB&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/PA35717" 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:10806" 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/FBgn0038042.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:1346523" 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/SGCB#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:1346523" 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/6443/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://www.orthodb.org/?ncbi=6443" 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=WBGene00019277;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-030131-6695" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6443" 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=SGCB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 718850008<br />
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<strong>ICD10CM:</strong> G71.0342<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600900
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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SARCOGLYCAN, BETA; SGCB
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 43-KD
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SGCB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SGCB</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/4/214?start=-3&limit=10&highlight=214">4q12</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:52020706-52038299&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'})">4:52,020,706-52,038,299</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>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/214?start=-3&limit=10&highlight=214">
|
|
4q12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy, limb-girdle, autosomal recessive 4
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/604286"> 604286 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</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="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-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; <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 (summary by <a href="#6" 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="#11" class="mim-tip-reference" title="Lim, L. E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F. M. S., Fardeau, M., Jackson, C. E., Beckmann, J. S., Campbell, K. P. <strong>Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.</strong> Nature Genet. 11: 257-265, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581448</a>] [<a href="https://doi.org/10.1038/ng1195-257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581448">Lim et al. (1995)</a> cloned and characterized human beta-sarcoglycan, a 43-kD component of the dystrophin-glycoprotein complex, and demonstrated its involvement in a form of muscular dystrophy (LGMDR4; <a href="/entry/604286">604286</a>). They showed that beta-sarcoglycan colocalizes with the DGC at the sarcolemma and is expressed ubiquitously, although predominantly in muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581448" 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>Independently, <a href="#2" class="mim-tip-reference" title="Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., Kunkel, L. M. <strong>Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.</strong> Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581449</a>] [<a href="https://doi.org/10.1038/ng1195-266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581449">Bonnemann et al. (1995)</a> cloned human beta-sarcoglycan by screening an adult muscle cDNA library. The deduced 318-amino acid protein has a calculated molecular mass of 34.8 kD. It contains a short N-terminal intracellular domain, a transmembrane domain, and a large C-terminal extracellular domain. The intracellular domain has a putative serine phosphorylation site, and the extracellular domain has 3 putative N-glycosylation sites and 5 cysteines that may participate in disulfide bond formation. Northern blot analysis detected strong expression of a 4.5-kb transcript in human heart and skeletal muscle, with lower expression in brain, kidney, placenta, pancreas, and lung. A minor 3-kb transcript was also present in these tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Bonnemann, C. G., Passos-Bueno, M. R., McNally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K., Pavanello, R. C. M., Noguchi, S., Ozawa, E., Zatz, M., Kunkel, L. M. <strong>Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).</strong> Hum. Molec. Genet. 5: 1953-1961, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968749</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968749">Bonnemann et al. (1996)</a> reported that the SGCB gene contains 6 exons and spans 13.5 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968749" 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 somatic cell hybridization and fluorescence in situ hybridization, <a href="#11" class="mim-tip-reference" title="Lim, L. E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F. M. S., Fardeau, M., Jackson, C. E., Beckmann, J. S., Campbell, K. P. <strong>Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.</strong> Nature Genet. 11: 257-265, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581448</a>] [<a href="https://doi.org/10.1038/ng1195-257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581448">Lim et al. (1995)</a> assigned the SGCB gene to chromosome 4q12. <a href="#2" class="mim-tip-reference" title="Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., Kunkel, L. M. <strong>Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.</strong> Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581449</a>] [<a href="https://doi.org/10.1038/ng1195-266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581449">Bonnemann et al. (1995)</a> also mapped the SGCB gene, which they referred to as A3b, to 4q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7581448+7581449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Amish patients from southern Indiana with autosomal recessive limb-girdle muscular dystrophy-4 (LGMDR4, previously symbolized LGMD2E; <a href="/entry/604286">604286</a>), <a href="#11" class="mim-tip-reference" title="Lim, L. E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F. M. S., Fardeau, M., Jackson, C. E., Beckmann, J. S., Campbell, K. P. <strong>Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.</strong> Nature Genet. 11: 257-265, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581448</a>] [<a href="https://doi.org/10.1038/ng1195-257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581448">Lim et al. (1995)</a> identified a homozygous mutation in the SGCB gene (<a href="#0001">600900.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., Kunkel, L. M. <strong>Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.</strong> Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581449</a>] [<a href="https://doi.org/10.1038/ng1195-266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581449">Bonnemann et al. (1995)</a> described a young girl with autosomal recessive muscular dystrophy who was compound heterozygous for truncating SGCB mutations on both alleles (<a href="#0002">600900.0002</a>; <a href="#0003">600900.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581449" 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="#12" class="mim-tip-reference" title="Trabelsi, M., Kavian, N., Daoud, F., Commere, V., Deburgrave, N., Beugnet, C., Llense, S., Barbot, J. C., Vasson, A., Kaplan, J. C., Leturcq, F., Chelly, J. <strong>Revised spectrum of mutations in sarcoglycanopathies.</strong> Europ. J. Hum. Genet. 16: 793-803, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285821</a>] [<a href="https://doi.org/10.1038/ejhg.2008.9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18285821">Trabelsi et al. (2008)</a> identified biallelic mutations in sarcoglycan genes in 46 (67%) of 69 patients with a clinical diagnosis of autosomal recessive LGMD. Twenty-six (56.5%) patients had SGCA mutations, 8 (17.3%) had SGCB mutations, and 12 (26%) had SGCG (<a href="/entry/608896">608896</a>) mutations. Seven of the 9 SGCB mutations were novel. <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><a href="#10" class="mim-tip-reference" title="Li, C., Wilborn, J., Pittman, S., Daw, J., Alonso-Perez, J., Diaz-Manera, J., Weihl, C. C., Haller, G. <strong>Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.</strong> J. Clin. Invest. 133: e168156, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37317968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37317968</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37317968[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/JCI168156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37317968">Li et al. (2023)</a> developed an in vitro assay in HEK293 cells to determine pathogenicity of mutations in the SGCB gene. The HEK293 cells were transduced with lentiviruses coding for wildtype SGCA, SGCD, and SGCG to generate stable expression of these proteins. <a href="#10" class="mim-tip-reference" title="Li, C., Wilborn, J., Pittman, S., Daw, J., Alonso-Perez, J., Diaz-Manera, J., Weihl, C. C., Haller, G. <strong>Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.</strong> J. Clin. Invest. 133: e168156, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37317968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37317968</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37317968[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/JCI168156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37317968">Li et al. (2023)</a> then used single amino acid saturation mutagenesis to generate a cDNA library encoding for every possible nonsense, missense, and synonymous mutation in SGCB. The library was packaged into lentiviruses and transfected into the SGCA/SGCD/SGCG-expressing HEK293 cells. Cell surface expression of SGCB and SGCA proteins were then quantified to generate a functional score for each SGCB mutation. <a href="#10" class="mim-tip-reference" title="Li, C., Wilborn, J., Pittman, S., Daw, J., Alonso-Perez, J., Diaz-Manera, J., Weihl, C. C., Haller, G. <strong>Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.</strong> J. Clin. Invest. 133: e168156, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37317968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37317968</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37317968[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/JCI168156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37317968">Li et al. (2023)</a> found that the functional scores correlated to pathogenicity interpretation of SGCB variants in the ClinVar and Leiden databases, and outperformed bioinformatic predictions of pathogenicity of SGCB variants. Functional scores also correlated to disease severity of LGMD2E, including age of onset and age of loss of ambulation. Functional scores were also compared to an in silico model of SGCB protein structure, and changes in amino acids with inward facing side chains of a beta sheet structural domain tended to have more deleterious functional effects compared to changes in outward facing beta sheet amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37317968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Durbeej, M., Cohn, R. D., Hrstka, R. F., Moore, S. A., Allamand, V., Davidson, B. L., Williamson, R. A., Campbell, K. P. <strong>Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E.</strong> Molec. Cell 5: 141-151, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10678176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10678176</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80410-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10678176">Durbeej et al. (2000)</a> engineered Sgcb-null mice to analyze the biologic role of beta-sarcoglycan in the pathogenesis of LGMD2E. These mice developed severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. The sarcoglycan-sarcospan and dystroglycan complexes were disrupted in skeletal, cardiac, and smooth muscle membranes. Epsilon-sarcoglycan (SGCE; <a href="/entry/604149">604149</a>) was also reduced in membrane preparations of striated and smooth muscle. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle resulted in vascular irregularities in heart, diaphragm, and kidneys. Further biochemical characterization suggested the presence of a distinct epsilon-sarcoglycan complex in skeletal muscle that was disrupted in Sgcb-null mice. Thus, the authors concluded that perturbation of vascular function together with disruption of the epsilon-sarcoglycan-containing complex contribute to the pathogenesis of LGMD2E. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10678176" 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="Durbeej, M., Sawatzki, S. M., Barresi, R., Schmainda, K. M., Allamand, V., Michele, D. E., Campbell, K. P. <strong>Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy.</strong> Proc. Nat. Acad. Sci. 100: 8910-8915, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851463[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.1537554100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851463">Durbeej et al. (2003)</a> injected recombinant beta- or delta-sarcoglycan (<a href="/entry/601411">601411</a>) adenoviruses into skeletal muscle of corresponding null mice. They found that the adenoviruses would not transduce vascular smooth muscle and would target only skeletal muscle. Gene transfer of the corresponding deleted sarcoglycan gene preserved sarcolemmal integrity, prevented pathologic dystrophy and hypertrophy, and protected against exercise-induced damage. They concluded that vascular dysfunction is not a primary cause of beta- and delta-sarcoglycan-deficient muscular dystrophy. In addition, they showed successful functional rescue of entire muscles after adenovirus-mediated gene delivery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cohn, R. D., Durbeej, M., Moore, S. A., Coral-Vasquez, R., Prouty, S., Campbell, K. P. <strong>Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex.</strong> J. Clin. Invest. 107: R1-R7, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11160141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11160141</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11160141[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/JCI11642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11160141">Cohn et al. (2001)</a> had demonstrated that cardiomyopathy in beta- and delta-sarcoglycan-deficient mice can be prevented by using vorapamil, a calcium-channel blocker. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11160141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 affected Amish patients from southern Indiana with limb-girdle muscular dystrophy (LGMDR4; <a href="/entry/604286">604286</a>), <a href="#11" class="mim-tip-reference" title="Lim, L. E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F. M. S., Fardeau, M., Jackson, C. E., Beckmann, J. S., Campbell, K. P. <strong>Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.</strong> Nature Genet. 11: 257-265, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581448</a>] [<a href="https://doi.org/10.1038/ng1195-257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581448">Lim et al. (1995)</a> identified a homozygous 461C-G transversion in the SGCB gene, resulting in a thr151-to-arg (T151R) substitution. The major muscle beta-sarcoglycan mRNA transcript (4.4 kb) was present at normal levels and size in affected individuals. The mutation led to a dramatically reduced expression of the beta-sarcoglycan protein in the sarcolemma and a concomitant loss of adhalin (<a href="/entry/600119">600119</a>) and 35-DAG (SGCG; <a href="/entry/608896">608896</a>), which was interpreted as representing a disruption of a functional subcomplex within the dystrophin-glycoprotein complex. <a href="#11" class="mim-tip-reference" title="Lim, L. E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F. M. S., Fardeau, M., Jackson, C. E., Beckmann, J. S., Campbell, K. P. <strong>Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.</strong> Nature Genet. 11: 257-265, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581448</a>] [<a href="https://doi.org/10.1038/ng1195-257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581448">Lim et al. (1995)</a> identified a unique carrier haplotype suggestive of a founder effect different from the one found in northern Indiana and Pennsylvania Amish LGMD2A (<a href="/entry/253600">253600</a>) families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a child with an autosomal recessive muscular dystrophy (LGMDR4; <a href="/entry/604286">604286</a>), the only child of clinically unaffected and unrelated parents of Italian background, <a href="#2" class="mim-tip-reference" title="Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., Kunkel, L. M. <strong>Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.</strong> Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581449</a>] [<a href="https://doi.org/10.1038/ng1195-266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581449">Bonnemann et al. (1995)</a> found compound heterozygosity for 2 mutations in the SGCB gene: a T-to-G transversion, resulting in a tyr184-to-ter (Y184X) nonsense mutation, inherited from the mother, and an 8-bp duplication after codon 125 (<a href="#0003">600900.0003</a>), resulting in frameshift and a premature termination at codon 129, inherited from the father. Both mutations were predicted to severely truncate the protein, ablating most of its extracellular domain. At age 1 year, the patient had an increased serum creatine phosphokinase (CPK) without symptoms. Persistent elevation of CPK values prompted muscle biopsy at 13 months of age, which showed fiber size variation, scattered degenerating and regenerating muscle fibers, and mild increase in perimysial tissue. Reassessment at 40 months of age revealed signs of muscle weakness: she used a modified Gowers maneuver to get up from the floor and rolled onto her side to go from a lying into a sitting position. She had mild scapular winging and firmness of her calf muscles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For discussion of the 8-bp duplication in the SGCB gene that was found in compound heterozygous state in a patient with an autosomal recessive muscular dystrophy (LGMDR4; <a href="/entry/604286">604286</a>) by <a href="#2" class="mim-tip-reference" title="Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., Kunkel, L. M. <strong>Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.</strong> Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581449</a>] [<a href="https://doi.org/10.1038/ng1195-266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581449">Bonnemann et al. (1995)</a>, see <a href="#0002">600900.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 unrelated families with autosomal recessive muscular dystrophy from northern Italy with mutations in the beta- or gamma-sarcoglycan gene, <a href="#9" class="mim-tip-reference" title="Fanin, M., Hoffman, E. P., Angelini, C., Pegoraro, E. <strong>Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in northern Italy.</strong> Hum. Mutat. 16: 13-17, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874299</a>] [<a href="https://doi.org/10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10874299">Fanin et al. (2000)</a> found the 8-bp duplication in the SGCB gene and a 1-bp insertion in the SGCG gene (<a href="/entry/608896#0006">608896.0006</a>). Neither mutation had been found in other populations. Many patients were homozygotes, although they derived from nonconsanguineous marriages, and in each case linkage disequilibrium with neighboring polymorphisms was demonstrated. <a href="#9" class="mim-tip-reference" title="Fanin, M., Hoffman, E. P., Angelini, C., Pegoraro, E. <strong>Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in northern Italy.</strong> Hum. Mutat. 16: 13-17, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874299</a>] [<a href="https://doi.org/10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10874299">Fanin et al. (2000)</a> presented this as an example of founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10874299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barresi, R., Di Blasi, C., Negri, T., Brugnoni, R., Vitali, A., Felisari, G., Salandi, A., Daniel, S., Cornelio, F., Morandi, L., Mora, M. <strong>Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.</strong> J. Med. Genet. 37: 102-107, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662809</a>] [<a href="https://doi.org/10.1136/jmg.37.2.102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662809">Barresi et al. (2000)</a> identified the 8-bp duplication (which they referred to as 383^384ins376-383) in 2 cousins with LGMD2E. A girl, who was proven homozygous for the mutation, had severe myopathy from early infancy and was confined to a wheelchair since age 15. She had no cardiomyopathy. Muscle biopsy showed severe dystrophic features. In her male cousin, only a heterozygous 8-bp dup was identified; a second mutation in the SGCB gene was not detected, but presumed to be in a noncoding region. He developed proximal muscle weakness at age 15 years, and later developed fatal dilated cardiomyopathy. His heart muscle showed a major reduction of beta-sarcoglycan. <a href="#1" class="mim-tip-reference" title="Barresi, R., Di Blasi, C., Negri, T., Brugnoni, R., Vitali, A., Felisari, G., Salandi, A., Daniel, S., Cornelio, F., Morandi, L., Mora, M. <strong>Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.</strong> J. Med. Genet. 37: 102-107, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662809</a>] [<a href="https://doi.org/10.1136/jmg.37.2.102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662809">Barresi et al. (2000)</a> also reported an unrelated male who was compound heterozygous for the 8-bp duplication and a 4-bp deletion at the donor splice site in intron 2 (243+3delGAGT; <a href="#0009">600900.0009</a>), resulting in aberrant splicing and a 6-bp insertion (243insGTATTT) between exons 2 and 3. He showed onset of muscle weakness at age 4, and later developed fatal cardiomyopathy with death at age 18. The duplication mutation was predicted to produce a truncated protein lacking most of the extracellular region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a female patient with severe limb-girdle muscular dystrophy type 2E (LGMDR4; <a href="/entry/604286">604286</a>), <a href="#3" class="mim-tip-reference" title="Bonnemann, C. G., Passos-Bueno, M. R., McNally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K., Pavanello, R. C. M., Noguchi, S., Ozawa, E., Zatz, M., Kunkel, L. M. <strong>Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).</strong> Hum. Molec. Genet. 5: 1953-1961, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968749</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968749">Bonnemann et al. (1996)</a> identified a homozygous 2-bp deletion at nucleotide 465 in the SGCB gene, resulting in a truncated protein. Age of onset was 5 to 6 years and loss of ambulation occurred at 11 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968749" 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> rs104893869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893869;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/rs104893869?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=rs104893869" 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=rs104893869" 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 children from a family with limb-girdle muscular dystrophy type 2E (LGMDR4; <a href="/entry/604286">604286</a>), <a href="#3" class="mim-tip-reference" title="Bonnemann, C. G., Passos-Bueno, M. R., McNally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K., Pavanello, R. C. M., Noguchi, S., Ozawa, E., Zatz, M., Kunkel, L. M. <strong>Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).</strong> Hum. Molec. Genet. 5: 1953-1961, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968749</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968749">Bonnemann et al. (1996)</a> identified a homozygous 272G-C transversion in the SGCB gene, resulting in an arg91-to-pro (R91P) substitution. One, a male patient who had onset of symptoms between age 5 and 6 years, lost ambulation at age 10 and died at age 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968749" 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">rs104893870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893870;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=rs104893870" 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=rs104893870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a female patient with limb-girdle muscular dystrophy type 2E (LGMDR4; <a href="/entry/604286">604286</a>), <a href="#3" class="mim-tip-reference" title="Bonnemann, C. G., Passos-Bueno, M. R., McNally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K., Pavanello, R. C. M., Noguchi, S., Ozawa, E., Zatz, M., Kunkel, L. M. <strong>Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).</strong> Hum. Molec. Genet. 5: 1953-1961, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968749</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968749">Bonnemann et al. (1996)</a> identified a 323T-G transversion in the SGCB gene, resulting in a leu108-to-arg (L108R) substitution. She had onset of symptoms at age 7 years and lost ambulation at age 12. An affected male sib had died of muscular dystrophy at age 16 years. Only 1 mutation was identified in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968749" 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">rs104893871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893871;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=rs104893871" 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=rs104893871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a female patient with limb-girdle muscular dystrophy type 2E (LGMDR4; <a href="/entry/604286">604286</a>), <a href="#3" class="mim-tip-reference" title="Bonnemann, C. G., Passos-Bueno, M. R., McNally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K., Pavanello, R. C. M., Noguchi, S., Ozawa, E., Zatz, M., Kunkel, L. M. <strong>Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).</strong> Hum. Molec. Genet. 5: 1953-1961, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968749</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968749">Bonnemann et al. (1996)</a> identified a 299T-A transversion in the SGCB gene, resulting in a met100-to-lys (M100K) substitution. Onset of symptoms was at age 5 years; the patient had marked elevation of CPK and calf hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968749" 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> rs104893869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893869;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/rs104893869?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=rs104893869" 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=rs104893869" 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=RCV000009257 OR RCV000727513" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009257, RCV000727513" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009257...</a>
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<p><a href="#4" class="mim-tip-reference" title="Bonnemann, C. G., Wong, J., Ben Hamida, C., Ben Hamida, M., Hentati, F., Kunkel, L. M. <strong>LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.</strong> Neuromusc. Disord. 8: 193-197, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9631401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9631401</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00014-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9631401">Bonnemann et al. (1998)</a> demonstrated that affected members of a Tunisian family with beta-sarcoglycanopathy (LGMDR4; <a href="/entry/604286">604286</a>) had a 272G-T mutation in exon 3 of the SGCB gene, resulting in an arg91-to-leu (R91L) substitution. The change affected the same arginine residue in the immediate extracellular domain of the protein that was mutated in a Brazilian family with a severe form of the disease: 272G-C, arg91 to pro (R91P; <a href="#0005">600900.0005</a>). In both the R91L and the R91P families, immunohistochemical analysis for the sarcoglycan complex demonstrated absence of the known components of the complex. <a href="#4" class="mim-tip-reference" title="Bonnemann, C. G., Wong, J., Ben Hamida, C., Ben Hamida, M., Hentati, F., Kunkel, L. M. <strong>LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.</strong> Neuromusc. Disord. 8: 193-197, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9631401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9631401</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00014-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9631401">Bonnemann et al. (1998)</a> postulated that the immediate extracellular domain of beta-sarcoglycan may be important for the assembly and/or maintenance of this complex, potentially mediated by disulfide-bond formation to another sarcoglycan via the single cysteine residue in that domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9631401" 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>The identification of a Tunisian family with LGMDR4 demonstrated further the heterogeneity of autosomal recessive LGMD in that geographic region. LGMD2C (LGMDR5; <a href="/entry/253700">253700</a>), caused by mutations in gamma-sarcoglycan (SGCG; <a href="/entry/608896">608896</a>), is prevalent in northern Africa, especially in Tunisia where this type of muscular dystrophy was first described. Although the disease initially was assumed to be genetically homogeneous in that region, linkage to the alpha-sarcoglycan locus (see LGMDR3, <a href="/entry/608099">608099</a>) had also been found.</p>
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<strong>.0009 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</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">rs1553940660 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553940660;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=rs1553940660" 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=rs1553940660" 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=RCV000670539" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000670539" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000670539</a>
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<p>For discussion of the 4-bp deletion in the SGCB gene (243+3delGAGT) that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy type 2E (LGMDR4; <a href="/entry/604286">604286</a>) by <a href="#1" class="mim-tip-reference" title="Barresi, R., Di Blasi, C., Negri, T., Brugnoni, R., Vitali, A., Felisari, G., Salandi, A., Daniel, S., Cornelio, F., Morandi, L., Mora, M. <strong>Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.</strong> J. Med. Genet. 37: 102-107, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662809</a>] [<a href="https://doi.org/10.1136/jmg.37.2.102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662809">Barresi et al. (2000)</a>, see <a href="#0003">600900.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Barresi, R., Di Blasi, C., Negri, T., Brugnoni, R., Vitali, A., Felisari, G., Salandi, A., Daniel, S., Cornelio, F., Morandi, L., Mora, M.
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<strong>Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.</strong>
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J. Med. Genet. 37: 102-107, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.37.2.102" target="_blank">Full Text</a>]
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Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., Kunkel, L. M.
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<strong>Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.</strong>
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Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581449" 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/ng1195-266" target="_blank">Full Text</a>]
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Bonnemann, C. G., Passos-Bueno, M. R., McNally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K., Pavanello, R. C. M., Noguchi, S., Ozawa, E., Zatz, M., Kunkel, L. M.
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<strong>Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).</strong>
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Hum. Molec. Genet. 5: 1953-1961, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968749" 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/5.12.1953" target="_blank">Full Text</a>]
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Bonnemann, C. G., Wong, J., Ben Hamida, C., Ben Hamida, M., Hentati, F., Kunkel, L. M.
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<strong>LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.</strong>
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Neuromusc. Disord. 8: 193-197, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9631401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9631401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9631401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(98)00014-5" target="_blank">Full Text</a>]
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Cohn, R. D., Durbeej, M., Moore, S. A., Coral-Vasquez, R., Prouty, S., Campbell, K. P.
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<strong>Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex.</strong>
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J. Clin. Invest. 107: R1-R7, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11160141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11160141</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11160141[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=11160141" 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/JCI11642" target="_blank">Full Text</a>]
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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.
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<strong>Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.</strong>
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Hum. Molec. Genet. 9: 2019-2027, 2000.
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[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://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'})">related citations</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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Durbeej, M., Cohn, R. D., Hrstka, R. F., Moore, S. A., Allamand, V., Davidson, B. L., Williamson, R. A., Campbell, K. P.
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<strong>Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E.</strong>
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Molec. Cell 5: 141-151, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10678176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10678176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10678176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(00)80410-4" target="_blank">Full Text</a>]
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Durbeej, M., Sawatzki, S. M., Barresi, R., Schmainda, K. M., Allamand, V., Michele, D. E., Campbell, K. P.
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<strong>Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy.</strong>
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Proc. Nat. Acad. Sci. 100: 8910-8915, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851463[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=12851463" 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.1537554100" target="_blank">Full Text</a>]
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Fanin, M., Hoffman, E. P., Angelini, C., Pegoraro, E.
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<strong>Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in northern Italy.</strong>
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Hum. Mutat. 16: 13-17, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10874299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Li2023" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, C., Wilborn, J., Pittman, S., Daw, J., Alonso-Perez, J., Diaz-Manera, J., Weihl, C. C., Haller, G.
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<strong>Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.</strong>
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J. Clin. Invest. 133: e168156, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37317968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37317968</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37317968[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=37317968" 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/JCI168156" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Lim1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lim, L. E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F. M. S., Fardeau, M., Jackson, C. E., Beckmann, J. S., Campbell, K. P.
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<strong>Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.</strong>
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Nature Genet. 11: 257-265, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581448" 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/ng1195-257" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" 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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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 10/10/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 03/20/2017<br>Cassandra L. Kniffin - updated : 1/23/2009<br>Cassandra L. Kniffin - reorganized : 9/24/2004<br>Victor A. McKusick - updated : 8/28/2003<br>Michael J. Wright - updated : 4/30/2002<br>Victor A. McKusick - updated : 8/17/2000<br>Stylianos E. Antonarakis - updated : 4/5/2000<br>Wilson H. Y. Lo - updated : 10/13/1999<br>Ada Hamosh - updated : 4/9/1999<br>Victor A. McKusick - updated : 10/8/1998<br>Moyra Smith - updated : 1/28/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 11/2/1995
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/10/2023
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<span class="mim-text-font">
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carol : 08/16/2019<br>carol : 09/25/2018<br>mgross : 03/20/2017<br>carol : 08/17/2015<br>mcolton : 8/12/2015<br>wwang : 1/30/2009<br>ckniffin : 1/23/2009<br>carol : 9/24/2004<br>ckniffin : 9/10/2004<br>ckniffin : 9/3/2004<br>terry : 11/10/2003<br>ckniffin : 9/23/2003<br>cwells : 9/2/2003<br>terry : 8/28/2003<br>alopez : 4/30/2002<br>alopez : 4/30/2002<br>carol : 8/18/2000<br>terry : 8/17/2000<br>mgross : 4/5/2000<br>alopez : 11/8/1999<br>alopez : 11/8/1999<br>carol : 10/13/1999<br>alopez : 4/9/1999<br>carol : 10/14/1998<br>terry : 10/8/1998<br>carol : 10/7/1998<br>carol : 6/26/1998<br>joanna : 6/24/1997<br>mark : 1/29/1997<br>terry : 1/28/1997<br>mark : 1/27/1997<br>carol : 6/22/1996<br>mimman : 6/19/1996<br>mark : 12/20/1995<br>mark : 12/20/1995<br>mark : 11/2/1995
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</span>
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<span class="mim-font">
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<strong>*</strong> 600900
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<div>
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<h3>
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<span class="mim-font">
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SARCOGLYCAN, BETA; SGCB
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 43-KD
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SGCB</em></strong>
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</span>
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<strong>SNOMEDCT:</strong> 718850008;
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<strong>ICD10CM:</strong> G71.0342;
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<strong>
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<em>
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Cytogenetic location: 4q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:52,020,706-52,038,299 </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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<span class="mim-font">
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4q12
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<td>
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<span class="mim-font">
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Muscular dystrophy, limb-girdle, autosomal recessive 4
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</td>
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<td>
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<span class="mim-font">
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604286
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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>Description</strong>
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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 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 (summary by Crosbie et al., 2000). </p>
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<br />
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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>Lim et al. (1995) cloned and characterized human beta-sarcoglycan, a 43-kD component of the dystrophin-glycoprotein complex, and demonstrated its involvement in a form of muscular dystrophy (LGMDR4; 604286). They showed that beta-sarcoglycan colocalizes with the DGC at the sarcolemma and is expressed ubiquitously, although predominantly in muscle. </p><p>Independently, Bonnemann et al. (1995) cloned human beta-sarcoglycan by screening an adult muscle cDNA library. The deduced 318-amino acid protein has a calculated molecular mass of 34.8 kD. It contains a short N-terminal intracellular domain, a transmembrane domain, and a large C-terminal extracellular domain. The intracellular domain has a putative serine phosphorylation site, and the extracellular domain has 3 putative N-glycosylation sites and 5 cysteines that may participate in disulfide bond formation. Northern blot analysis detected strong expression of a 4.5-kb transcript in human heart and skeletal muscle, with lower expression in brain, kidney, placenta, pancreas, and lung. A minor 3-kb transcript was also present in these tissues. </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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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bonnemann et al. (1996) reported that the SGCB gene contains 6 exons and spans 13.5 kb of genomic DNA. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By somatic cell hybridization and fluorescence in situ hybridization, Lim et al. (1995) assigned the SGCB gene to chromosome 4q12. Bonnemann et al. (1995) also mapped the SGCB gene, which they referred to as A3b, to 4q12. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 Amish patients from southern Indiana with autosomal recessive limb-girdle muscular dystrophy-4 (LGMDR4, previously symbolized LGMD2E; 604286), Lim et al. (1995) identified a homozygous mutation in the SGCB gene (600900.0001). </p><p>Bonnemann et al. (1995) described a young girl with autosomal recessive muscular dystrophy who was compound heterozygous for truncating SGCB mutations on both alleles (600900.0002; 600900.0003). </p><p>Trabelsi et al. (2008) identified biallelic mutations in sarcoglycan genes in 46 (67%) of 69 patients with a clinical diagnosis of autosomal recessive LGMD. Twenty-six (56.5%) patients had SGCA mutations, 8 (17.3%) had SGCB mutations, and 12 (26%) had SGCG (608896) mutations. Seven of the 9 SGCB mutations were novel. </p><p>Li et al. (2023) developed an in vitro assay in HEK293 cells to determine pathogenicity of mutations in the SGCB gene. The HEK293 cells were transduced with lentiviruses coding for wildtype SGCA, SGCD, and SGCG to generate stable expression of these proteins. Li et al. (2023) then used single amino acid saturation mutagenesis to generate a cDNA library encoding for every possible nonsense, missense, and synonymous mutation in SGCB. The library was packaged into lentiviruses and transfected into the SGCA/SGCD/SGCG-expressing HEK293 cells. Cell surface expression of SGCB and SGCA proteins were then quantified to generate a functional score for each SGCB mutation. Li et al. (2023) found that the functional scores correlated to pathogenicity interpretation of SGCB variants in the ClinVar and Leiden databases, and outperformed bioinformatic predictions of pathogenicity of SGCB variants. Functional scores also correlated to disease severity of LGMD2E, including age of onset and age of loss of ambulation. Functional scores were also compared to an in silico model of SGCB protein structure, and changes in amino acids with inward facing side chains of a beta sheet structural domain tended to have more deleterious functional effects compared to changes in outward facing beta sheet amino acids. </p>
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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 class="mim-text-font">
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<p>Durbeej et al. (2000) engineered Sgcb-null mice to analyze the biologic role of beta-sarcoglycan in the pathogenesis of LGMD2E. These mice developed severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. The sarcoglycan-sarcospan and dystroglycan complexes were disrupted in skeletal, cardiac, and smooth muscle membranes. Epsilon-sarcoglycan (SGCE; 604149) was also reduced in membrane preparations of striated and smooth muscle. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle resulted in vascular irregularities in heart, diaphragm, and kidneys. Further biochemical characterization suggested the presence of a distinct epsilon-sarcoglycan complex in skeletal muscle that was disrupted in Sgcb-null mice. Thus, the authors concluded that perturbation of vascular function together with disruption of the epsilon-sarcoglycan-containing complex contribute to the pathogenesis of LGMD2E. </p><p>Durbeej et al. (2003) injected recombinant beta- or delta-sarcoglycan (601411) adenoviruses into skeletal muscle of corresponding null mice. They found that the adenoviruses would not transduce vascular smooth muscle and would target only skeletal muscle. Gene transfer of the corresponding deleted sarcoglycan gene preserved sarcolemmal integrity, prevented pathologic dystrophy and hypertrophy, and protected against exercise-induced damage. They concluded that vascular dysfunction is not a primary cause of beta- and delta-sarcoglycan-deficient muscular dystrophy. In addition, they showed successful functional rescue of entire muscles after adenovirus-mediated gene delivery. </p><p>Cohn et al. (2001) had demonstrated that cardiomyopathy in beta- and delta-sarcoglycan-deficient mice can be prevented by using vorapamil, a calcium-channel blocker. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 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 4</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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SGCB, THR151ARG
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<br />
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SNP: rs28936383,
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gnomAD: rs28936383,
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ClinVar: RCV000009250, RCV000598498, RCV004998080
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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 affected Amish patients from southern Indiana with limb-girdle muscular dystrophy (LGMDR4; 604286), Lim et al. (1995) identified a homozygous 461C-G transversion in the SGCB gene, resulting in a thr151-to-arg (T151R) substitution. The major muscle beta-sarcoglycan mRNA transcript (4.4 kb) was present at normal levels and size in affected individuals. The mutation led to a dramatically reduced expression of the beta-sarcoglycan protein in the sarcolemma and a concomitant loss of adhalin (600119) and 35-DAG (SGCG; 608896), which was interpreted as representing a disruption of a functional subcomplex within the dystrophin-glycoprotein complex. Lim et al. (1995) identified a unique carrier haplotype suggestive of a founder effect different from the one found in northern Indiana and Pennsylvania Amish LGMD2A (253600) families. </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 4</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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SGCB, TYR184TER
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<br />
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SNP: rs104893868,
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ClinVar: RCV000009251
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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 child with an autosomal recessive muscular dystrophy (LGMDR4; 604286), the only child of clinically unaffected and unrelated parents of Italian background, Bonnemann et al. (1995) found compound heterozygosity for 2 mutations in the SGCB gene: a T-to-G transversion, resulting in a tyr184-to-ter (Y184X) nonsense mutation, inherited from the mother, and an 8-bp duplication after codon 125 (600900.0003), resulting in frameshift and a premature termination at codon 129, inherited from the father. Both mutations were predicted to severely truncate the protein, ablating most of its extracellular domain. At age 1 year, the patient had an increased serum creatine phosphokinase (CPK) without symptoms. Persistent elevation of CPK values prompted muscle biopsy at 13 months of age, which showed fiber size variation, scattered degenerating and regenerating muscle fibers, and mild increase in perimysial tissue. Reassessment at 40 months of age revealed signs of muscle weakness: she used a modified Gowers maneuver to get up from the floor and rolled onto her side to go from a lying into a sitting position. She had mild scapular winging and firmness of her calf muscles. </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">
|
|
<strong>.0003 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</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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SGCB, 8-BP DUP, NT383
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<br />
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SNP: rs751427729,
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gnomAD: rs751427729,
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ClinVar: RCV000009252, RCV004998081
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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>For discussion of the 8-bp duplication in the SGCB gene that was found in compound heterozygous state in a patient with an autosomal recessive muscular dystrophy (LGMDR4; 604286) by Bonnemann et al. (1995), see 600900.0002. </p><p>In 6 unrelated families with autosomal recessive muscular dystrophy from northern Italy with mutations in the beta- or gamma-sarcoglycan gene, Fanin et al. (2000) found the 8-bp duplication in the SGCB gene and a 1-bp insertion in the SGCG gene (608896.0006). Neither mutation had been found in other populations. Many patients were homozygotes, although they derived from nonconsanguineous marriages, and in each case linkage disequilibrium with neighboring polymorphisms was demonstrated. Fanin et al. (2000) presented this as an example of founder effect. </p><p>Barresi et al. (2000) identified the 8-bp duplication (which they referred to as 383^384ins376-383) in 2 cousins with LGMD2E. A girl, who was proven homozygous for the mutation, had severe myopathy from early infancy and was confined to a wheelchair since age 15. She had no cardiomyopathy. Muscle biopsy showed severe dystrophic features. In her male cousin, only a heterozygous 8-bp dup was identified; a second mutation in the SGCB gene was not detected, but presumed to be in a noncoding region. He developed proximal muscle weakness at age 15 years, and later developed fatal dilated cardiomyopathy. His heart muscle showed a major reduction of beta-sarcoglycan. Barresi et al. (2000) also reported an unrelated male who was compound heterozygous for the 8-bp duplication and a 4-bp deletion at the donor splice site in intron 2 (243+3delGAGT; 600900.0009), resulting in aberrant splicing and a 6-bp insertion (243insGTATTT) between exons 2 and 3. He showed onset of muscle weakness at age 4, and later developed fatal cardiomyopathy with death at age 18. The duplication mutation was predicted to produce a truncated protein lacking most of the extracellular region. </p>
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|
</span>
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</div>
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<div>
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|
<br />
|
|
</div>
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|
|
</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCB, 2-BP DEL, NT465
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|
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|
|
<br />
|
|
|
|
SNP: rs1578125670,
|
|
|
|
|
|
|
|
ClinVar: RCV000009253
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with severe limb-girdle muscular dystrophy type 2E (LGMDR4; 604286), Bonnemann et al. (1996) identified a homozygous 2-bp deletion at nucleotide 465 in the SGCB gene, resulting in a truncated protein. Age of onset was 5 to 6 years and loss of ambulation occurred at 11 years. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCB, ARG91PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104893869,
|
|
|
|
|
|
gnomAD: rs104893869,
|
|
|
|
|
|
ClinVar: RCV000009254
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected children from a family with limb-girdle muscular dystrophy type 2E (LGMDR4; 604286), Bonnemann et al. (1996) identified a homozygous 272G-C transversion in the SGCB gene, resulting in an arg91-to-pro (R91P) substitution. One, a male patient who had onset of symptoms between age 5 and 6 years, lost ambulation at age 10 and died at age 22. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCB, LEU108ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104893870,
|
|
|
|
|
|
|
|
ClinVar: RCV000009255
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with limb-girdle muscular dystrophy type 2E (LGMDR4; 604286), Bonnemann et al. (1996) identified a 323T-G transversion in the SGCB gene, resulting in a leu108-to-arg (L108R) substitution. She had onset of symptoms at age 7 years and lost ambulation at age 12. An affected male sib had died of muscular dystrophy at age 16 years. Only 1 mutation was identified in this family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCB, MET100LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104893871,
|
|
|
|
|
|
|
|
ClinVar: RCV000009256
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with limb-girdle muscular dystrophy type 2E (LGMDR4; 604286), Bonnemann et al. (1996) identified a 299T-A transversion in the SGCB gene, resulting in a met100-to-lys (M100K) substitution. Onset of symptoms was at age 5 years; the patient had marked elevation of CPK and calf hypertrophy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCB, ARG91LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104893869,
|
|
|
|
|
|
gnomAD: rs104893869,
|
|
|
|
|
|
ClinVar: RCV000009257, RCV000727513
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Bonnemann et al. (1998) demonstrated that affected members of a Tunisian family with beta-sarcoglycanopathy (LGMDR4; 604286) had a 272G-T mutation in exon 3 of the SGCB gene, resulting in an arg91-to-leu (R91L) substitution. The change affected the same arginine residue in the immediate extracellular domain of the protein that was mutated in a Brazilian family with a severe form of the disease: 272G-C, arg91 to pro (R91P; 600900.0005). In both the R91L and the R91P families, immunohistochemical analysis for the sarcoglycan complex demonstrated absence of the known components of the complex. Bonnemann et al. (1998) postulated that the immediate extracellular domain of beta-sarcoglycan may be important for the assembly and/or maintenance of this complex, potentially mediated by disulfide-bond formation to another sarcoglycan via the single cysteine residue in that domain. </p><p>The identification of a Tunisian family with LGMDR4 demonstrated further the heterogeneity of autosomal recessive LGMD in that geographic region. LGMD2C (LGMDR5; 253700), caused by mutations in gamma-sarcoglycan (SGCG; 608896), is prevalent in northern Africa, especially in Tunisia where this type of muscular dystrophy was first described. Although the disease initially was assumed to be genetically homogeneous in that region, linkage to the alpha-sarcoglycan locus (see LGMDR3, 608099) had also been found.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGCB, 4-BP DEL, 243+3GAGT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553940660,
|
|
|
|
|
|
|
|
ClinVar: RCV000670539
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 4-bp deletion in the SGCB gene (243+3delGAGT) that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy type 2E (LGMDR4; 604286) by Barresi et al. (2000), see 600900.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barresi, R., Di Blasi, C., Negri, T., Brugnoni, R., Vitali, A., Felisari, G., Salandi, A., Daniel, S., Cornelio, F., Morandi, L., Mora, M.
|
|
<strong>Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.</strong>
|
|
J. Med. Genet. 37: 102-107, 2000.
|
|
|
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|
|
[PubMed: 10662809]
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|
|
[Full Text: https://doi.org/10.1136/jmg.37.2.102]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., Kunkel, L. M.
|
|
<strong>Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.</strong>
|
|
Nature Genet. 11: 266-273, 1995. Note: Erratum: Nature Genet. 12: 110 only, 1996.
|
|
|
|
|
|
[PubMed: 7581449]
|
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|
|
[Full Text: https://doi.org/10.1038/ng1195-266]
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonnemann, C. G., Passos-Bueno, M. R., McNally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K., Pavanello, R. C. M., Noguchi, S., Ozawa, E., Zatz, M., Kunkel, L. M.
|
|
<strong>Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).</strong>
|
|
Hum. Molec. Genet. 5: 1953-1961, 1996.
|
|
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|
|
[PubMed: 8968749]
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|
|
[Full Text: https://doi.org/10.1093/hmg/5.12.1953]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonnemann, C. G., Wong, J., Ben Hamida, C., Ben Hamida, M., Hentati, F., Kunkel, L. M.
|
|
<strong>LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.</strong>
|
|
Neuromusc. Disord. 8: 193-197, 1998.
|
|
|
|
|
|
[PubMed: 9631401]
|
|
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|
|
[Full Text: https://doi.org/10.1016/s0960-8966(98)00014-5]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
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