4476 lines
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Entry
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- *604149 - SARCOGLYCAN, EPSILON; SGCE
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- OMIM
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<p>
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<span class="h4">*604149</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#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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<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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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604149">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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</ul>
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<div id="mimFloatingLinksMenu">
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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 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 class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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=ENSG00000127990;t=ENST00000648936" 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=8910" 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=604149" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000127990;t=ENST00000648936" 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_001099400,NM_001099401,NM_001301139,NM_001346713,NM_001346715,NM_001346717,NM_001346719,NM_001346720,NM_001362807,NM_001362808,NM_001362809,NM_003919" 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_003919" 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=604149" 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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<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=04999&isoform_id=04999_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/SGCE" 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/2852695,2911510,2969926,10835047,18203849,21591737,37183202,41472895,47847002,119597190,119597191,119597192,119597193,119597194,150378454,150378535,189066682,194389948,221040546,251757514,667489387,957950548,957950551,1092878766,1092878791,1092878797,1092878837,1092878839,1384072034,1384072038,1384072044" 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/O43556" 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 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=8910" 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=ENSG00000127990;t=ENST00000648936" 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=SGCE" 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=SGCE" 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+8910" 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/SGCE" 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:8910" 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/8910" 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=chr7&hgg_gene=ENST00000648936.2&hgg_start=94584980&hgg_end=94656133&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 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/gene-dosage/HGNC:10808" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/sgce" 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=604149[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=604149[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/ENSG00000127990" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SGCE" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SGCE" 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=SGCE" 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/SGCE" 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=SGCE&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/PA35719" 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:10808" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0032013.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1329042" 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/SGCE#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:1329042" 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/8910/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=8910" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019227;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030724-1" 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:8910" 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=SGCE&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> 439732004<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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604149
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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, EPSILON; SGCE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SGCE" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SGCE</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/7/425?start=-3&limit=10&highlight=425">7q21.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:94584980-94656133&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'})">7:94,584,980-94,656,133</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/7/425?start=-3&limit=10&highlight=425">
|
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7q21.3
|
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Dystonia-11, myoclonic
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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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|
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<a href="/entry/159900"> 159900 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/604149" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604149" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<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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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
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<p>The SGCE gene encodes the epsilon member of the sarcoglycan family, single pass transmembrane proteins that are part of the dystrophin-glycoprotein complex (DGC), which links the actin cytoskeleton to the extracellular matrix in cardiac and skeletal muscle. There are 3 main subcomplexes of the DGC: the cytoplasmic subcomplex that contains dystrophin (DMD; 300377), dystrobrevins (DNTA1; <a href="/entry/601239">601239</a>) and syntrophins (SNTA1; 601017), the alpha- and beta-dystroglycans (see <a href="/entry/128239">128239</a>) subcomplex, and the sarcoglycan/sarcospan (SSPN; <a href="/entry/601599">601599</a>) subcomplex (summary by <a href="#5" class="mim-tip-reference" title="Esapa, C. T., Waite, A., Locke, M., Benson, M. A., Kraus, M., McIlhinney, R. A. J., Sillitoe, R. V., Beesley, P. W., Blake, D. J. <strong>SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.</strong> Hum. Molec. Genet. 16: 327-342, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200151</a>] [<a href="https://doi.org/10.1093/hmg/ddl472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200151">Esapa et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17200151" 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 searching an EST database with the rabbit alpha-sarcoglycan (SGCA; <a href="/entry/600119">600119</a>) sequence, <a href="#6" class="mim-tip-reference" title="Ettinger, A. J., Feng, G., Sanes, J. R. <strong>Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.</strong> J. Biol. Chem. 272: 32534-32538, 1997. Note: Erratum: J. Biol. Chem. 273: 19922 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9405466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9405466</a>] [<a href="https://doi.org/10.1074/jbc.272.51.32534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9405466">Ettinger et al. (1997)</a> identified a human EST encoding a partial sequence of a novel protein, which they named epsilon-sarcoglycan (SGCE). Using this EST, they isolated mouse cDNAs corresponding to the complete coding sequence of Sgce. <a href="#6" class="mim-tip-reference" title="Ettinger, A. J., Feng, G., Sanes, J. R. <strong>Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.</strong> J. Biol. Chem. 272: 32534-32538, 1997. Note: Erratum: J. Biol. Chem. 273: 19922 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9405466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9405466</a>] [<a href="https://doi.org/10.1074/jbc.272.51.32534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9405466">Ettinger et al. (1997)</a> showed that Sgce is a membrane-associated glycoprotein that is widely expressed in both muscle and nonmuscle cells, and in embryos as well as adults. They suggested that sarcoglycans may be important for embryonic development and/or for integrity of nonmuscle tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9405466" 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="#19" class="mim-tip-reference" title="McNally, E. M., Ly, C. T., Kunkel, L. M. <strong>Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.</strong> FEBS Lett. 422: 27-32, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475163</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01593-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475163">McNally et al. (1998)</a> isolated a full-length human SGCE cDNA by screening a heart cDNA library with a human SGCE EST. The predicted 413-amino acid protein consists of a signal sequence; a large extracellular domain containing 4 conserved cysteine residues and a potential glycosylation site; a transmembrane domain; and a short cytoplasmic domain. The deduced SGCE protein is 43% identical to SGCA. Northern blot analysis detected a 1.7-kb SGCE transcript in all human tissues examined; this broad expression contrasts with the predominant or exclusive expression of the alpha-, beta (<a href="/entry/600900">600900</a>)-, gamma (<a href="/entry/608896">608896</a>)-, and delta (<a href="/entry/601411">601411</a>)-sarcoglycans in striated muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Nishiyama, A., Endo, T., Takeda, S., Imamura, M. <strong>Identification and characterization of epsilon-sarcoglycans in the central nervous system.</strong> Brain Res. Molec. Brain Res. 125: 1-12, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15193417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15193417</a>] [<a href="https://doi.org/10.1016/j.molbrainres.2004.01.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15193417">Nishiyama et al. (2004)</a> identified 2 major alternatively spliced Sgce isoforms in the mouse brain. One was the conventional form including exon 8 (Sgce1), which immunoblot analysis showed was broadly expressed in various mouse tissues. The other form was a novel transcript excluding exon 8 but including a previously unknown exon 11b (Sgce2), which immunoblot analysis showed was exclusively expressed in brain. Both isoforms coexisted in neurons in various regions of the brain, but subcellular fractionation of brain homogenates indicated that Sgce1 and Sgce2 were enriched in postsynaptic and presynaptic membrane fractions, respectively. These results suggested that the 2 Sgce isoforms might play different roles in synaptic function of the central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15193417" 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>Sgce is expressed in neurons in various regions of the murine central nervous system, including the cerebral cortex, basal ganglia, hippocampus, cerebellum, and the olfactory bulb. <a href="#5" class="mim-tip-reference" title="Esapa, C. T., Waite, A., Locke, M., Benson, M. A., Kraus, M., McIlhinney, R. A. J., Sillitoe, R. V., Beesley, P. W., Blake, D. J. <strong>SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.</strong> Hum. Molec. Genet. 16: 327-342, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200151</a>] [<a href="https://doi.org/10.1093/hmg/ddl472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200151">Esapa et al. (2007)</a> found expression of Sgce at the plasma membrane of dendrites and soma in hippocampal neurons and muscle, as well as in intracellular inclusions and in association with the Golgi apparatus of cultured hippocampal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17200151" 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="#23" class="mim-tip-reference" title="Ritz, K., van Schaik, B. D., Jakobs, M. E., van Kampen, A. H., Aronica, E., Tijssen, M. A., Baas, F. <strong>SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?</strong> Europ. J. Hum. Genet. 19: 438-444, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21157498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21157498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21157498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21157498">Ritz et al. (2011)</a> analyzed alternative splicing events of the entire SGCE gene and found only 4 that occurred at frequencies above 1%: exon 1c, and the known alternatively spliced exons 2, 8, and 11b. Exon 1c transcript was found in brain (5.7%) and nonbrain tissue (2.0-2.3%). The exon 2 form was expressed at high levels in all tissues tested, whereas exon 8 form was highly represented in muscle and blood but low in brain. <a href="#23" class="mim-tip-reference" title="Ritz, K., van Schaik, B. D., Jakobs, M. E., van Kampen, A. H., Aronica, E., Tijssen, M. A., Baas, F. <strong>SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?</strong> Europ. J. Hum. Genet. 19: 438-444, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21157498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21157498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21157498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21157498">Ritz et al. (2011)</a> found expression of the SGCE transcript containing exon 11b mainly in human brain tissue, with differential expression in various regions, including the somatosensory and motor cortex, putamen, thalamus, hippocampus, and cerebellum. The imprinting pattern of SGCE in muscle and blood was maintained in brain tissues. <a href="#23" class="mim-tip-reference" title="Ritz, K., van Schaik, B. D., Jakobs, M. E., van Kampen, A. H., Aronica, E., Tijssen, M. A., Baas, F. <strong>SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?</strong> Europ. J. Hum. Genet. 19: 438-444, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21157498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21157498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21157498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21157498">Ritz et al. (2011)</a> suggested that the pathogenesis of myoclonic dystonia (<a href="/entry/159900">159900</a>) may be related to dysfunction of the cerebellum due to the brain-specific exon 11b SGCE transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21157498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The SGCE gene contains 12 exons, and <a href="#19" class="mim-tip-reference" title="McNally, E. M., Ly, C. T., Kunkel, L. M. <strong>Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.</strong> FEBS Lett. 422: 27-32, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475163</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01593-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475163">McNally et al. (1998)</a> estimated that it spans between 50 and 100 kb. Exon 10, which encodes 25 amino acids in the cytoplasmic domain, is alternatively spliced and is absent from the majority of transcripts. The authors identified a polymorphic dinucleotide CA repeat 3-prime of exon 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Nishiyama, A., Endo, T., Takeda, S., Imamura, M. <strong>Identification and characterization of epsilon-sarcoglycans in the central nervous system.</strong> Brain Res. Molec. Brain Res. 125: 1-12, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15193417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15193417</a>] [<a href="https://doi.org/10.1016/j.molbrainres.2004.01.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15193417">Nishiyama et al. (2004)</a> identified a novel Sgce exon 11b that was present in a transcript exclusively expressed in the brain. <a href="#26" class="mim-tip-reference" title="Yokoi, F., Dang, M. T., Mitsui, S., Li, Y. <strong>Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.</strong> FEBS Lett. 579: 4822-4828, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16099459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16099459</a>] [<a href="https://doi.org/10.1016/j.febslet.2005.07.065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16099459">Yokoi et al. (2005)</a> identified another brain-specific transcript including exon 11c (an elongated exon 11b), in mouse brain. Transcripts containing either exon 11b or 11c encode proteins with a different C-terminal sequence containing a PDZ-binding motif. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15193417+16099459" 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>Using radiation hybrid mapping, <a href="#19" class="mim-tip-reference" title="McNally, E. M., Ly, C. T., Kunkel, L. M. <strong>Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.</strong> FEBS Lett. 422: 27-32, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475163</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01593-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475163">McNally et al. (1998)</a> localized the human SGCE gene to chromosome 7q21-q22, between markers D7S644 and D7S657. They mapped a processed SGCE pseudogene to 2q21 by FISH and radiation hybrid mapping. By analysis of backcross panels, <a href="#19" class="mim-tip-reference" title="McNally, E. M., Ly, C. T., Kunkel, L. M. <strong>Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.</strong> FEBS Lett. 422: 27-32, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475163</a>] [<a href="https://doi.org/10.1016/s0014-5793(97)01593-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475163">McNally et al. (1998)</a> mapped the mouse Sgce gene near the telomere of chromosome 6, a region showing homology of synteny with human 7q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475163" 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>Myoclonus-dystonia syndrome (see <a href="/entry/159900">159900</a>) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles (<a href="#10" class="mim-tip-reference" title="Gasser, T. <strong>Inherited myoclonus-dystonia syndrome.</strong> Adv. Neurol. 78: 325-334, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9750929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9750929</a>]" pmid="9750929">Gasser, 1998</a>). Dystonia, usually torticollis and/or writer's cramp, occurs in most but not all affected patients and may occasionally be the only symptom of the disease. In addition, patients often show prominent psychiatric abnormalities, including panic attacks and obsessive-compulsive behavior. Linkage studies in most families demonstrated that the disorder is linked to a locus on 7q21. Using a positional cloning approach, <a href="#27" class="mim-tip-reference" title="Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T. <strong>Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.</strong> Nature Genet. 29: 66-69, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528394</a>] [<a href="https://doi.org/10.1038/ng709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528394">Zimprich et al. (2001)</a> identified 5 different heterozygous loss-of-function mutations (<a href="#0001">604149.0001</a>-<a href="#0005">604149.0005</a>) in the SGCE gene, which they had mapped to a refined critical region of 3.2 Mb for the myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>). Pedigree analysis showed a marked difference in penetrance depending on the parental origin of the disease allele. This was indicative of a maternal imprinting mechanism, which had been demonstrated in the mouse epsilon-sarcoglycan gene (<a href="#22" class="mim-tip-reference" title="Piras, G., El Kharroubi, A., Kozlov, S., Escalante-Alcalde, D., Hernandez, L., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Stewart, C. L. <strong>Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.</strong> Molec. Cell. Biol. 20: 3308-3315, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757814</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10757814[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/10.1128/MCB.20.9.3308-3315.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10757814">Piras et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10757814+9750929+11528394" 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 24 patients from 9 families with myoclonic dystonia-11, <a href="#2" class="mim-tip-reference" title="Asmus, F., Zimprich, A., Tezenas du Montcel, S., Kabus, C., Deuschl, G., Kupsch, A., Ziemann, U., Castro, M., Kuhn, A. A., Strom, T. M., Vidailhet, M., Bhatia, K. P., Durr, A., Wood, N. W., Brice, A., Gasser, T. <strong>Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.</strong> Ann. Neurol. 52: 489-492, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325078</a>] [<a href="https://doi.org/10.1002/ana.10325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325078">Asmus et al. (2002)</a> identified 1 previously known and 6 novel mutations in the SGCE gene. Pedigree analysis showed reduced penetrance of the phenotype upon maternal inheritance of the mutated allele, indicating genomic imprinting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325078" 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="#20" class="mim-tip-reference" title="Muller, B., Hedrich, K., Kock, N., Dragasevic, N., Svetel, M., Garrels, J., Landt, O., Nitschke, M., Pramstaller, P. P., Reik, W., Schwinger, E., Sperner, J., Ozelius, L., Kostic, V., Klein, C. <strong>Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.</strong> Am. J. Hum. Genet. 71: 1303-1311, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12444570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12444570</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12444570[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/10.1086/344531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12444570">Muller et al. (2002)</a> presented an apparently sporadic myoclonus-dystonia case and 2 patients from a myoclonus-dystonia family with seemingly autosomal recessive inheritance. In both families, they detected an SGCE mutation that was inherited from the patients' clinically unaffected fathers in an autosomal dominant fashion. In the first family, RNA expression studies revealed expression of only the mutated allele in affected individuals and expression of the normal allele exclusively in unaffected mutation carriers, whereas the affected individual of the second family expressed both alleles. <a href="#20" class="mim-tip-reference" title="Muller, B., Hedrich, K., Kock, N., Dragasevic, N., Svetel, M., Garrels, J., Landt, O., Nitschke, M., Pramstaller, P. P., Reik, W., Schwinger, E., Sperner, J., Ozelius, L., Kostic, V., Klein, C. <strong>Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.</strong> Am. J. Hum. Genet. 71: 1303-1311, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12444570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12444570</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12444570[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/10.1086/344531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12444570">Muller et al. (2002)</a> identified differentially methylated regions in the promoter region of the SGCE gene as a characteristic feature of imprinted genes. Using a rare polymorphism in the promoter region in a family unaffected with myoclonus-dystonia, they demonstrated methylation of the maternal allele, in keeping with maternal imprinting of the SGCE gene. Loss of imprinting in the patient with myoclonus-dystonia who had biallelic expression of the SGCE gene was associated with partial loss of methylation at several CpG dinucleotides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12444570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="DeBerardinis, R. J., Conforto, D., Russell, K., Kaplan, J., Kollros, P. R., Zackai, E. H., Emanuel, B. S. <strong>Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.</strong> Am. J. Med. Genet. 121A: 31-36, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900898</a>] [<a href="https://doi.org/10.1002/ajmg.a.20162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12900898">DeBerardinis et al. (2003)</a> described a 32-month-old child with an interstitial deletion affecting 7q21 and a phenotype that included myoclonus, microcephaly, short stature, dysmorphic face, and language delay. They used FISH to estimate the size of the deletion (9.0 to 15 Mb) and to confirm absence of the SGCE gene on the affected chromosome. PCR analysis of polymorphic markers in the region revealed that the paternally inherited chromosome contained the deletion, consistent with a model of maternal SGCE imprinting. The patient appeared to represent a new contiguous gene disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12900898" 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>Using bisulfite genomic sequencing, <a href="#11" class="mim-tip-reference" title="Grabowski, M., Zimprich, A., Lorenz-Depiereux, B., Kalscheuer, V., Asmus, F., Gasser, T., Meitinger, T., Strom, T. M. <strong>The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.</strong> Europ. J. Hum. Genet. 11: 138-144, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12634861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12634861</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12634861">Grabowski et al. (2003)</a> studied the methylation pattern of CpG dinucleotides within the CpG island containing the promoter region and the first exon of the SGCE gene. In peripheral blood leukocytes from MDS patients, the maternal allele was methylated and the paternal allele unmethylated; in brain tissue, the maternal allele appeared to be completely methylated. <a href="#11" class="mim-tip-reference" title="Grabowski, M., Zimprich, A., Lorenz-Depiereux, B., Kalscheuer, V., Asmus, F., Gasser, T., Meitinger, T., Strom, T. M. <strong>The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.</strong> Europ. J. Hum. Genet. 11: 138-144, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12634861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12634861</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12634861">Grabowski et al. (2003)</a> concluded that these results provided strong evidence for maternal imprinting of the SGCE gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12634861" 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="Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T. <strong>Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.</strong> Ann. Neurol. 58: 792-797, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240355</a>] [<a href="https://doi.org/10.1002/ana.20661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16240355">Asmus et al. (2005)</a> identified 2 different large heterozygous deletions in the SGCE gene (<a href="#0010">604149.0010</a> and <a href="#0011">604149.0011</a>) in affected members from 2 unrelated families with myoclonic dystonia. The deletion was paternally inherited in all cases with motor symptoms. In 1 family, a man who inherited the mutation maternally did not have motor symptoms but did have alcohol dependence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16240355" 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="#24" class="mim-tip-reference" title="Tezenas du Montcel, S., Clot, F., Vidailhet, M., Roze, E., Damier, P., Jedynak, C. P., Camuzat, A., Lagueny, A., Vercueil, L., Doummar, D., Guyant-Marechal, L., Houeto, J.-L., and 10 others. <strong>Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.</strong> J. Med. Genet. 43: 394-400, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227522</a>] [<a href="https://doi.org/10.1136/jmg.2005.036780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227522">Tezenas du Montcel et al. (2006)</a> identified 13 different mutations in the SGCE gene in 16 of 76 unrelated French Caucasian patients with myoclonus-dystonia or essential myoclonus. In 12 families (75%), at least 1 other family member was affected. Penetrance was complete in paternal transmissions and null in maternal transmissions. None of the patients had severe psychiatric disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227522" 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="Esapa, C. T., Waite, A., Locke, M., Benson, M. A., Kraus, M., McIlhinney, R. A. J., Sillitoe, R. V., Beesley, P. W., Blake, D. J. <strong>SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.</strong> Hum. Molec. Genet. 16: 327-342, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200151</a>] [<a href="https://doi.org/10.1093/hmg/ddl472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200151">Esapa et al. (2007)</a> performed in vitro functional expression studies with 3 different pathogenic mutations in the mouse Sgce gene, H36R, H36P, and L172R, which are homologous to the human disease-causing mutations H60R, H60P, and L195R (<a href="#0006">604149.0006</a>), respectively. Studies in COS-7 cells, cortical neurons, and neuroblastoma cells showed mislocalization of the mutant proteins, with the mutant proteins either being retained in the endoplasmic reticulum or diffusely distributed in soma and dendrites rather than in discrete punctae like wildtype. Studies in HEK293 cells showed decreased levels of the mutant proteins resulting from ubiquitination and degradation by the proteosome. The L172R mutant appeared to be misfolded with a propensity to form aggregates, which was not demonstrated with either of the H60 mutants. Coexpression of the mutants with wildtype TOR1A resulted in a reduction in levels of the mutant proteins, suggesting that TOR1A can help clear mutant SGCE from the cell. The overall findings indicated that myoclonus-dystonia is caused by loss of function of SGCE at the plasma membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17200151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Imamura, M., Mochizuki, Y., Engvall, E., Takeda, S. <strong>Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 14: 775-783, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689353</a>] [<a href="https://doi.org/10.1093/hmg/ddi072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689353">Imamura et al. (2005)</a> established several transgenic mouse lines that overexpressed Sgce in skeletal muscle. Overexpression in normal mice resulted in substitution of Sgce for Sgca in the sarcoglycan complex of skeletal muscle without any obvious abnormalities. Mice overexpressing Sgce were crossed with Sgca-deficient mice, and Sgca-deficient mice overexpressing Sgce exhibited no skeletal muscle cell membrane damage or abnormal contraction. <a href="#14" class="mim-tip-reference" title="Imamura, M., Mochizuki, Y., Engvall, E., Takeda, S. <strong>Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.</strong> Hum. Molec. Genet. 14: 775-783, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689353</a>] [<a href="https://doi.org/10.1093/hmg/ddi072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689353">Imamura et al. (2005)</a> suggested that overexpression of SGCE may represent a therapeutic strategy for treatment of LGMD2D (<a href="/entry/608099">608099</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15689353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006124 OR RCV000713248 OR RCV001267609 OR RCV004742214" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006124, RCV000713248, RCV001267609, RCV004742214" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006124...</a>
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<p>In affected members of a family with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), <a href="#27" class="mim-tip-reference" title="Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T. <strong>Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.</strong> Nature Genet. 29: 66-69, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528394</a>] [<a href="https://doi.org/10.1038/ng709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528394">Zimprich et al. (2001)</a> found an arg97-to-ter (R97X) nonsense mutation in exon 3 of the SGCE gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528394" 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="#25" class="mim-tip-reference" title="Valente, E. M., Edwards, M. J., Mir, P., DiGiorgio, A., Salvi, S., Davis, M., Russo, N., Bozi, M., Kim, H.-T., Pennisi, G., Quinn, N., Dallapiccola, B., Bhatia, K. P. <strong>The epsilon-sarcoglycan gene in myoclonic syndromes.</strong> Neurology 64: 737-739, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728306</a>] [<a href="https://doi.org/10.1212/01.WNL.0000151979.68010.9B" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15728306">Valente et al. (2005)</a> identified the R97X mutation in 2 of 58 unrelated patients with a range of myoclonic/dystonic syndromes. Both patients had a phenotype consistent with myoclonus-dystonia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728306" 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">rs121908490 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908490;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=rs121908490" 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=rs121908490" 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=RCV000006125 OR RCV000713249 OR RCV004742215" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006125, RCV000713249, RCV004742215" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006125...</a>
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<p>In 2 families with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), <a href="#27" class="mim-tip-reference" title="Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T. <strong>Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.</strong> Nature Genet. 29: 66-69, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528394</a>] [<a href="https://doi.org/10.1038/ng709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528394">Zimprich et al. (2001)</a> found that affected members had the same heterozygous nonsense mutation in the SGCE gene: a 304C-T transition causing an arg102-to-ter (R102X) amino acid change. In 1 of these families there was a demonstration of reduced penetrance in the offspring of an affected female, who had 2 unaffected sons, 1 of whom transmitted the disorder to a daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528394" 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="Han, F., Lang, A. E., Racacho, L., Bulman, D. E., Grimes, D. A. <strong>Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.</strong> Neurology 61: 244-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874409</a>] [<a href="https://doi.org/10.1212/01.wnl.0000073142.40185.c1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12874409">Han et al. (2003)</a> reported 2 families with myoclonus-dystonia syndrome caused by the R102X mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12874409" 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 family with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>) in an irregular autosomal dominant pedigree pattern, <a href="#27" class="mim-tip-reference" title="Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T. <strong>Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.</strong> Nature Genet. 29: 66-69, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528394</a>] [<a href="https://doi.org/10.1038/ng709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528394">Zimprich et al. (2001)</a> found that affected individuals had a 1-bp deletion, 565delA, leading to a frameshift of the coding region of the SGCE gene, with a premature stop at codon 169. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528394" 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 family with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), <a href="#27" class="mim-tip-reference" title="Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T. <strong>Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.</strong> Nature Genet. 29: 66-69, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528394</a>] [<a href="https://doi.org/10.1038/ng709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528394">Zimprich et al. (2001)</a> demonstrated a 97-bp deletion in the SGCE gene affecting intron 3 and 15 bp of exon 4. There were 2 affected members of the family, a grandmother who did not transmit the disorder to her son, who, however, had an affected daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528394" 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">rs863223283 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223283;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=rs863223283" 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=rs863223283" 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=RCV000006128 OR RCV000516364" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006128, RCV000516364" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006128...</a>
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<p>In a family with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), first reported by <a href="#15" class="mim-tip-reference" title="Klein, C., Brin, M. F., Kramer, P., Sena-Esteves, M., de Leon, D., Doheny, D., Bressman, S., Fahn, S., Breakefield, X. O., Ozelius, L. J. <strong>Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.</strong> Proc. Nat. Acad. Sci. 96: 5173-5176, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10220438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10220438</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10220438[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.96.9.5173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10220438">Klein et al. (1999)</a> and found to have a heterozygous mutation in the DRD2 gene (<a href="/entry/126450#0001">126450.0001</a>), <a href="#16" class="mim-tip-reference" title="Klein, C., Liu, L., Doheny, D., Kock, N., Muller, B., de Carvalho Aguiar, P., Leung, J., de Leon, D., Bressman, S. B., Silverman, J., Smith, C., and 9 others. <strong>Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.</strong> Ann. Neurol. 52: 675-679, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402271</a>] [<a href="https://doi.org/10.1002/ana.10358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402271">Klein et al. (2002)</a> identified a 5-bp deletion in exon 7 of the SGCE gene (835_839delACAAA) in all 8 affected members. The mutation resulted in a frameshift and premature stop codon (Lys278fs295Ter). There were 2 unaffected carriers of both mutations. The contribution of each mutation to the clinical phenotype could not be determined, but the phenotype most likely resulted from the SGCE mutation because <a href="#15" class="mim-tip-reference" title="Klein, C., Brin, M. F., Kramer, P., Sena-Esteves, M., de Leon, D., Doheny, D., Bressman, S., Fahn, S., Breakefield, X. O., Ozelius, L. J. <strong>Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.</strong> Proc. Nat. Acad. Sci. 96: 5173-5176, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10220438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10220438</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10220438[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.96.9.5173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10220438">Klein et al. (1999)</a> had shown that the DRD2 mutant was similar to wildtype and did not show impaired activity in in vitro studies. (See also <a href="#9" class="mim-tip-reference" title="Furukawa, Y., Rajput, A. H. <strong>Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes?</strong> Neurology 59: 1130-1131, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391338</a>] [<a href="https://doi.org/10.1212/wnl.59.8.1130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12391338">Furukawa and Rajput, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10220438+12402271+12391338" 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">rs121908491 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908491;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=rs121908491" 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=rs121908491" 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=RCV000006129" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006129" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006129</a>
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<p>In 2 sibs with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), first reported by <a href="#18" class="mim-tip-reference" title="Leung, J. C., Klein, C., Friedman, J., Vieregge, P., Jacobs, H., Doheny, D., Kamm, C., DeLeon, D., Pramstaller, P. P., Penney, J. B., Eisengart, M., Jankovic, J., Gasser, T., Bressman, S. B., Corey, D. P., Kramer, P., Brin, M. F., Ozelius, L. J., Breakefield, X. O. <strong>Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.</strong> Neurogenetics 3: 133-143, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11523564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11523564</a>] [<a href="https://doi.org/10.1007/s100480100111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11523564">Leung et al. (2001)</a> and found to have a heterozygous 18-bp deletion in the DYT1 gene (TOR1A; <a href="/entry/605204#0002">605204.0002</a>), <a href="#16" class="mim-tip-reference" title="Klein, C., Liu, L., Doheny, D., Kock, N., Muller, B., de Carvalho Aguiar, P., Leung, J., de Leon, D., Bressman, S. B., Silverman, J., Smith, C., and 9 others. <strong>Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.</strong> Ann. Neurol. 52: 675-679, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402271</a>] [<a href="https://doi.org/10.1002/ana.10358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402271">Klein et al. (2002)</a> identified a 587T-G transversion in exon 5 of the SGCE gene, resulting in a leu196-to-arg substitution. The sibs had inherited the DYT1 deletion from their mother, who showed dystonic features, and the SGCE mutation from their father, who showed myoclonic features. The SGCE missense change was not detected in 500 control chromosomes. <a href="#4" class="mim-tip-reference" title="Doheny, D., Danisi, F., Smith, C., Morrison, C., Velickovic, M., de Leon, D., Bressman, S. B., Leung, J., Ozelius, L., Klein, C., Breakefield, X. O., Brin, M. F., Silverman, J. M. <strong>Clinical findings of a myoclonus-dystonia family with two distinct mutations.</strong> Neurology 59: 1244-1246, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391355</a>] [<a href="https://doi.org/10.1212/wnl.59.8.1244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12391355">Doheny et al. (2002)</a> described the clinical features of this family in greater detail. The proband had onset at age 5 years of myoclonic jerky movements of the legs and arms, which later progressed to the head, and dystonic features. Psychiatric evaluation revealed depression and anxiety. Her brother had onset of motor jerks at age 6 years, which later developed into multifocal myoclonus at rest, and dystonic posturing. Psychiatric evaluation revealed depression, anxiety and panic disorders, attention deficit disorder, and alcoholism. The mother, who carried the DYT1 mutation, had intermittent lip puckering, neck stiffness, tremulous voice, clumsiness, involuntary toe movements, and post-traumatic stress disorder after the death of her mother. No myoclonus was noted. The father, who carried the SGCE mutation, had occasional jerking of the upper limbs and action tremor. Psychiatric history was negative. The maternal grandfather, who carried the DYT1 mutation, reportedly had lip puckering and tremulous voice, as well as depression, anxiety and panic disorders, and posttraumatic stress disorder (PTSD). <a href="#4" class="mim-tip-reference" title="Doheny, D., Danisi, F., Smith, C., Morrison, C., Velickovic, M., de Leon, D., Bressman, S. B., Leung, J., Ozelius, L., Klein, C., Breakefield, X. O., Brin, M. F., Silverman, J. M. <strong>Clinical findings of a myoclonus-dystonia family with two distinct mutations.</strong> Neurology 59: 1244-1246, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391355</a>] [<a href="https://doi.org/10.1212/wnl.59.8.1244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12391355">Doheny et al. (2002)</a> noted that the clinical picture in this family is unique and that the contributions of each mutation to the clinical phenotype could not definitively be determined. (See also <a href="#9" class="mim-tip-reference" title="Furukawa, Y., Rajput, A. H. <strong>Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes?</strong> Neurology 59: 1130-1131, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391338</a>] [<a href="https://doi.org/10.1212/wnl.59.8.1130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12391338">Furukawa and Rajput, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12391355+12402271+11523564+12391338" 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">rs863223284 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223284;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=rs863223284" 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=rs863223284" 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=RCV000006130" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006130" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006130</a>
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<p>In a 5-generation Dutch family with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>) in which 3 of 5 affected members also had seizures, <a href="#8" class="mim-tip-reference" title="Foncke, E. M. J., Klein, C., Koelman, J. H. T. M., Kramer, P. L., Schilling, K., Muller, B., Garrels, J., de Carvalho Aguiar, P., Liu, L., de Froe, A., Speelman, J. D., Ozelius, L. J., Tijssen, M. A. J. <strong>Hereditary myoclonus-dystonia associated with epilepsy.</strong> Neurology 60: 1988-1990, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12821748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12821748</a>] [<a href="https://doi.org/10.1212/01.wnl.0000066020.99191.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12821748">Foncke et al. (2003)</a> identified a 1-bp insertion in the SGCE gene, 885_886insT, resulting in a frameshift and subsequent protein termination at amino acid 297. One asymptomatic 21-year-old individual in the fifth generation also carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12821748" 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">rs1584531843 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1584531843;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=rs1584531843" 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=rs1584531843" 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=RCV000006131" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006131" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006131</a>
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<p>In a large family in which 9 individuals were affected with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), <a href="#13" class="mim-tip-reference" title="Hjermind, L. E., Werdelin, L. M., Eiberg, H., Krag-Olsen, B., Dupont, E., Sorensen, S. A. <strong>A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.</strong> Neurology 60: 1536-1539, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743249</a>] [<a href="https://doi.org/10.1212/01.wnl.0000061480.86610.bf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743249">Hjermind et al. (2003)</a> identified a 1-bp deletion (974delC) in exon 7 of the SGCE gene, resulting in a premature stop at codon 325. Affected individuals had prominent symptoms in their legs, and children in the fourth generation were particularly severely affected. In addition, affected individuals had laryngeal involvement causing vocal myoclonus. Three of 12 gene carriers (25%) were unaffected, showing incomplete penetrance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12743249" 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">rs121908492 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908492;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=rs121908492" 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=rs121908492" 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=RCV000006132 OR RCV003311652" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006132, RCV003311652" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006132...</a>
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<p>In 2 of 58 unrelated patients with a range of myoclonic/dystonic syndromes, <a href="#25" class="mim-tip-reference" title="Valente, E. M., Edwards, M. J., Mir, P., DiGiorgio, A., Salvi, S., Davis, M., Russo, N., Bozi, M., Kim, H.-T., Pennisi, G., Quinn, N., Dallapiccola, B., Bhatia, K. P. <strong>The epsilon-sarcoglycan gene in myoclonic syndromes.</strong> Neurology 64: 737-739, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728306</a>] [<a href="https://doi.org/10.1212/01.WNL.0000151979.68010.9B" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15728306">Valente et al. (2005)</a> identified a heterozygous mutation in the SGCE gene, resulting in an arg372-to-ter (R372X) substitution. Both patients had a phenotype consistent with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006133" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006133" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006133</a>
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<p>In 5 affected members of a German pedigree with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), <a href="#1" class="mim-tip-reference" title="Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T. <strong>Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.</strong> Ann. Neurol. 58: 792-797, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240355</a>] [<a href="https://doi.org/10.1002/ana.20661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16240355">Asmus et al. (2005)</a> identified a heterozygous 15,020-bp deletion in the SGCE gene, resulting in the deletion of exon 5 and termination before the transmembrane domain. The deletion was paternally inherited in all cases. <a href="#1" class="mim-tip-reference" title="Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T. <strong>Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.</strong> Ann. Neurol. 58: 792-797, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240355</a>] [<a href="https://doi.org/10.1002/ana.20661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16240355">Asmus et al. (2005)</a> suggested nonhomologous end joining as the molecular mechanism for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16240355" 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>.0011 DYSTONIA 11, MYOCLONIC</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006134" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006134" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006134</a>
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<p>In 2 sibs from a Danish family with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>), <a href="#1" class="mim-tip-reference" title="Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T. <strong>Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.</strong> Ann. Neurol. 58: 792-797, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240355</a>] [<a href="https://doi.org/10.1002/ana.20661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16240355">Asmus et al. (2005)</a> identified a heterozygous 6,872-bp deletion in the SGCE gene, resulting in the deletion of exon 6 and termination before the transmembrane domain. The deletion was paternally inherited in both cases. Their father, who inherited the mutation maternally, did not have motor symptoms, but did have alcohol dependence. <a href="#1" class="mim-tip-reference" title="Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T. <strong>Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.</strong> Ann. Neurol. 58: 792-797, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240355</a>] [<a href="https://doi.org/10.1002/ana.20661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16240355">Asmus et al. (2005)</a> suggested nonhomologous end joining as the molecular mechanism for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16240355" 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">rs863223285 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223285;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=rs863223285" 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=rs863223285" 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=RCV000006135" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006135" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006135</a>
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<p>In affected members of a large Dutch family with myoclonus-dystonia syndrome (DYT11; <a href="/entry/159900">159900</a>) reported by <a href="#17" class="mim-tip-reference" title="Korten, J. J., Notermans, S. L. H., Frenken, C. W. G. M., Gabreels, F. J. M., Joosten, E. M. G. <strong>Familial essential myoclonus.</strong> Brain 97: 131-138, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4434166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4434166</a>] [<a href="https://doi.org/10.1093/brain/97.1.131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4434166">Korten et al. (1974)</a>, <a href="#7" class="mim-tip-reference" title="Foncke, E. M. J., Gerrits, M. C. F., van Ruissen, F., Baas, F., Hedrich, K., Tijssen, C. C., Klein, C., Tijssen, M. A. J. <strong>Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.</strong> Neurology 67: 1677-1680, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17101905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17101905</a>] [<a href="https://doi.org/10.1212/01.wnl.0000242880.49051.1f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17101905">Foncke et al. (2006)</a> identified a heterozygous 2-bp deletion (619_620delAG) in exon 5 of the SGCE gene, resulting in a frameshift and premature termination (Arg207GlyfsTer215). The mutation was identified in all 19 symptomatic relatives, all 5 'possibly affected' relatives, and in 9 clinically unaffected relatives. All symptomatic individuals inherited the mutation from their father, and all asymptomatic individuals inherited it from their mother. <a href="#7" class="mim-tip-reference" title="Foncke, E. M. J., Gerrits, M. C. F., van Ruissen, F., Baas, F., Hedrich, K., Tijssen, C. C., Klein, C., Tijssen, M. A. J. <strong>Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.</strong> Neurology 67: 1677-1680, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17101905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17101905</a>] [<a href="https://doi.org/10.1212/01.wnl.0000242880.49051.1f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17101905">Foncke et al. (2006)</a> noted that subtle distal myoclonus of the fingers was a prominent feature in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4434166+17101905" 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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Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T.
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<strong>Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.</strong>
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Ann. Neurol. 58: 792-797, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16240355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.20661" target="_blank">Full Text</a>]
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Asmus, F., Zimprich, A., Tezenas du Montcel, S., Kabus, C., Deuschl, G., Kupsch, A., Ziemann, U., Castro, M., Kuhn, A. A., Strom, T. M., Vidailhet, M., Bhatia, K. P., Durr, A., Wood, N. W., Brice, A., Gasser, T.
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<strong>Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.</strong>
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Ann. Neurol. 52: 489-492, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10325" target="_blank">Full Text</a>]
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DeBerardinis, R. J., Conforto, D., Russell, K., Kaplan, J., Kollros, P. R., Zackai, E. H., Emanuel, B. S.
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<strong>Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.</strong>
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Am. J. Med. Genet. 121A: 31-36, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12900898" 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/ajmg.a.20162" target="_blank">Full Text</a>]
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Doheny, D., Danisi, F., Smith, C., Morrison, C., Velickovic, M., de Leon, D., Bressman, S. B., Leung, J., Ozelius, L., Klein, C., Breakefield, X. O., Brin, M. F., Silverman, J. M.
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<strong>Clinical findings of a myoclonus-dystonia family with two distinct mutations.</strong>
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Neurology 59: 1244-1246, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12391355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.59.8.1244" target="_blank">Full Text</a>]
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Esapa, C. T., Waite, A., Locke, M., Benson, M. A., Kraus, M., McIlhinney, R. A. J., Sillitoe, R. V., Beesley, P. W., Blake, D. J.
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<strong>SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.</strong>
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Hum. Molec. Genet. 16: 327-342, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17200151" 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/ddl472" target="_blank">Full Text</a>]
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Ettinger, A. J., Feng, G., Sanes, J. R.
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<strong>Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.</strong>
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J. Biol. Chem. 272: 32534-32538, 1997. Note: Erratum: J. Biol. Chem. 273: 19922 only, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9405466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9405466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9405466" 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/10.1074/jbc.272.51.32534" target="_blank">Full Text</a>]
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Foncke, E. M. J., Gerrits, M. C. F., van Ruissen, F., Baas, F., Hedrich, K., Tijssen, C. C., Klein, C., Tijssen, M. A. J.
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<strong>Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.</strong>
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Neurology 67: 1677-1680, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17101905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17101905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17101905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000242880.49051.1f" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000066020.99191.76" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000073142.40185.c1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000061480.86610.bf" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Tezenas du Montcel, S., Clot, F., Vidailhet, M., Roze, E., Damier, P., Jedynak, C. P., Camuzat, A., Lagueny, A., Vercueil, L., Doummar, D., Guyant-Marechal, L., Houeto, J.-L., and 10 others.
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<strong>Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.</strong>
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J. Med. Genet. 43: 394-400, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227522" 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.2005.036780" target="_blank">Full Text</a>]
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</p>
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<a id="25" class="mim-anchor"></a>
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<a id="Valente2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valente, E. M., Edwards, M. J., Mir, P., DiGiorgio, A., Salvi, S., Davis, M., Russo, N., Bozi, M., Kim, H.-T., Pennisi, G., Quinn, N., Dallapiccola, B., Bhatia, K. P.
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<strong>The epsilon-sarcoglycan gene in myoclonic syndromes.</strong>
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Neurology 64: 737-739, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.WNL.0000151979.68010.9B" target="_blank">Full Text</a>]
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</p>
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<a id="26" class="mim-anchor"></a>
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<a id="Yokoi2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yokoi, F., Dang, M. T., Mitsui, S., Li, Y.
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<strong>Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.</strong>
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FEBS Lett. 579: 4822-4828, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16099459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16099459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16099459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.febslet.2005.07.065" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Zimprich2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T.
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<strong>Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.</strong>
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Nature Genet. 29: 66-69, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528394" 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/ng709" target="_blank">Full Text</a>]
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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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Cassandra L. Kniffin - updated : 6/8/2011
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/8/2010<br>George E. Tiller - updated : 4/25/2008<br>Cassandra L. Kniffin - updated : 8/29/2007<br>Cassandra L. Kniffin - updated : 6/12/2006<br>Cassandra L. Kniffin - updated : 3/3/2006<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Marla J. F. O'Neill - updated : 5/12/2004<br>Victor A. McKusick - updated : 8/25/2003<br>Cassandra L. Kniffin - updated : 8/12/2003<br>Cassandra L. Kniffin - updated : 8/8/2003<br>Victor A. McKusick - updated : 1/8/2003<br>Cassandra L. Kniffin - updated : 12/26/2002<br>Cassandra L. Kniffin - updated : 12/4/2002<br>Victor A. McKusick - updated : 8/23/2001
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<a id="creationDate" class="mim-anchor"></a>
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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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<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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Patti M. Sherman : 9/1/1999
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</span>
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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 : 09/06/2018
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<span class="mim-text-font">
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carol : 12/22/2017<br>carol : 03/10/2016<br>joanna : 10/27/2015<br>carol : 10/23/2015<br>carol : 10/13/2015<br>wwang : 6/23/2011<br>ckniffin : 6/8/2011<br>carol : 3/18/2011<br>wwang : 12/29/2010<br>wwang : 7/14/2010<br>ckniffin : 7/8/2010<br>wwang : 4/29/2008<br>terry : 4/25/2008<br>wwang : 9/12/2007<br>ckniffin : 8/29/2007<br>wwang : 6/16/2006<br>ckniffin : 6/12/2006<br>wwang : 3/13/2006<br>ckniffin : 3/3/2006<br>wwang : 6/15/2005<br>wwang : 6/14/2005<br>ckniffin : 6/9/2005<br>ckniffin : 9/10/2004<br>carol : 5/13/2004<br>terry : 5/12/2004<br>tkritzer : 8/26/2003<br>terry : 8/25/2003<br>tkritzer : 8/20/2003<br>ckniffin : 8/12/2003<br>tkritzer : 8/12/2003<br>ckniffin : 8/8/2003<br>tkritzer : 1/9/2003<br>terry : 1/8/2003<br>cwells : 1/7/2003<br>ckniffin : 12/27/2002<br>ckniffin : 12/26/2002<br>cwells : 12/10/2002<br>ckniffin : 12/4/2002<br>carol : 3/13/2002<br>mcapotos : 12/28/2001<br>alopez : 9/18/2001<br>alopez : 8/27/2001<br>terry : 8/23/2001<br>carol : 2/15/2001<br>mgross : 9/14/1999<br>mgross : 9/14/1999<br>mgross : 9/13/1999<br>mgross : 9/13/1999<br>psherman : 9/7/1999<br>psherman : 9/3/1999
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<span class="mim-font">
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<strong>*</strong> 604149
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<div>
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<h3>
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<span class="mim-font">
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SARCOGLYCAN, EPSILON; SGCE
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</span>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SGCE</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 439732004;
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<strong>
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<em>
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Cytogenetic location: 7q21.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:94,584,980-94,656,133 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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7q21.3
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<td>
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<span class="mim-font">
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Dystonia-11, myoclonic
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</td>
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<td>
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<span class="mim-font">
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159900
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<td>
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>The SGCE gene encodes the epsilon member of the sarcoglycan family, single pass transmembrane proteins that are part of the dystrophin-glycoprotein complex (DGC), which links the actin cytoskeleton to the extracellular matrix in cardiac and skeletal muscle. There are 3 main subcomplexes of the DGC: the cytoplasmic subcomplex that contains dystrophin (DMD; 300377), dystrobrevins (DNTA1; 601239) and syntrophins (SNTA1; 601017), the alpha- and beta-dystroglycans (see 128239) subcomplex, and the sarcoglycan/sarcospan (SSPN; 601599) subcomplex (summary by Esapa et al., 2007). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By searching an EST database with the rabbit alpha-sarcoglycan (SGCA; 600119) sequence, Ettinger et al. (1997) identified a human EST encoding a partial sequence of a novel protein, which they named epsilon-sarcoglycan (SGCE). Using this EST, they isolated mouse cDNAs corresponding to the complete coding sequence of Sgce. Ettinger et al. (1997) showed that Sgce is a membrane-associated glycoprotein that is widely expressed in both muscle and nonmuscle cells, and in embryos as well as adults. They suggested that sarcoglycans may be important for embryonic development and/or for integrity of nonmuscle tissues. </p><p>McNally et al. (1998) isolated a full-length human SGCE cDNA by screening a heart cDNA library with a human SGCE EST. The predicted 413-amino acid protein consists of a signal sequence; a large extracellular domain containing 4 conserved cysteine residues and a potential glycosylation site; a transmembrane domain; and a short cytoplasmic domain. The deduced SGCE protein is 43% identical to SGCA. Northern blot analysis detected a 1.7-kb SGCE transcript in all human tissues examined; this broad expression contrasts with the predominant or exclusive expression of the alpha-, beta (600900)-, gamma (608896)-, and delta (601411)-sarcoglycans in striated muscle. </p><p>Nishiyama et al. (2004) identified 2 major alternatively spliced Sgce isoforms in the mouse brain. One was the conventional form including exon 8 (Sgce1), which immunoblot analysis showed was broadly expressed in various mouse tissues. The other form was a novel transcript excluding exon 8 but including a previously unknown exon 11b (Sgce2), which immunoblot analysis showed was exclusively expressed in brain. Both isoforms coexisted in neurons in various regions of the brain, but subcellular fractionation of brain homogenates indicated that Sgce1 and Sgce2 were enriched in postsynaptic and presynaptic membrane fractions, respectively. These results suggested that the 2 Sgce isoforms might play different roles in synaptic function of the central nervous system. </p><p>Sgce is expressed in neurons in various regions of the murine central nervous system, including the cerebral cortex, basal ganglia, hippocampus, cerebellum, and the olfactory bulb. Esapa et al. (2007) found expression of Sgce at the plasma membrane of dendrites and soma in hippocampal neurons and muscle, as well as in intracellular inclusions and in association with the Golgi apparatus of cultured hippocampal cells. </p><p>Ritz et al. (2011) analyzed alternative splicing events of the entire SGCE gene and found only 4 that occurred at frequencies above 1%: exon 1c, and the known alternatively spliced exons 2, 8, and 11b. Exon 1c transcript was found in brain (5.7%) and nonbrain tissue (2.0-2.3%). The exon 2 form was expressed at high levels in all tissues tested, whereas exon 8 form was highly represented in muscle and blood but low in brain. Ritz et al. (2011) found expression of the SGCE transcript containing exon 11b mainly in human brain tissue, with differential expression in various regions, including the somatosensory and motor cortex, putamen, thalamus, hippocampus, and cerebellum. The imprinting pattern of SGCE in muscle and blood was maintained in brain tissues. Ritz et al. (2011) suggested that the pathogenesis of myoclonic dystonia (159900) may be related to dysfunction of the cerebellum due to the brain-specific exon 11b SGCE transcript. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>The SGCE gene contains 12 exons, and McNally et al. (1998) estimated that it spans between 50 and 100 kb. Exon 10, which encodes 25 amino acids in the cytoplasmic domain, is alternatively spliced and is absent from the majority of transcripts. The authors identified a polymorphic dinucleotide CA repeat 3-prime of exon 3. </p><p>Nishiyama et al. (2004) identified a novel Sgce exon 11b that was present in a transcript exclusively expressed in the brain. Yokoi et al. (2005) identified another brain-specific transcript including exon 11c (an elongated exon 11b), in mouse brain. Transcripts containing either exon 11b or 11c encode proteins with a different C-terminal sequence containing a PDZ-binding motif. </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>Using radiation hybrid mapping, McNally et al. (1998) localized the human SGCE gene to chromosome 7q21-q22, between markers D7S644 and D7S657. They mapped a processed SGCE pseudogene to 2q21 by FISH and radiation hybrid mapping. By analysis of backcross panels, McNally et al. (1998) mapped the mouse Sgce gene near the telomere of chromosome 6, a region showing homology of synteny with human 7q21. </p>
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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>Myoclonus-dystonia syndrome (see 159900) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles (Gasser, 1998). Dystonia, usually torticollis and/or writer's cramp, occurs in most but not all affected patients and may occasionally be the only symptom of the disease. In addition, patients often show prominent psychiatric abnormalities, including panic attacks and obsessive-compulsive behavior. Linkage studies in most families demonstrated that the disorder is linked to a locus on 7q21. Using a positional cloning approach, Zimprich et al. (2001) identified 5 different heterozygous loss-of-function mutations (604149.0001-604149.0005) in the SGCE gene, which they had mapped to a refined critical region of 3.2 Mb for the myoclonus-dystonia syndrome (DYT11; 159900). Pedigree analysis showed a marked difference in penetrance depending on the parental origin of the disease allele. This was indicative of a maternal imprinting mechanism, which had been demonstrated in the mouse epsilon-sarcoglycan gene (Piras et al., 2000). </p><p>In 24 patients from 9 families with myoclonic dystonia-11, Asmus et al. (2002) identified 1 previously known and 6 novel mutations in the SGCE gene. Pedigree analysis showed reduced penetrance of the phenotype upon maternal inheritance of the mutated allele, indicating genomic imprinting. </p><p>Muller et al. (2002) presented an apparently sporadic myoclonus-dystonia case and 2 patients from a myoclonus-dystonia family with seemingly autosomal recessive inheritance. In both families, they detected an SGCE mutation that was inherited from the patients' clinically unaffected fathers in an autosomal dominant fashion. In the first family, RNA expression studies revealed expression of only the mutated allele in affected individuals and expression of the normal allele exclusively in unaffected mutation carriers, whereas the affected individual of the second family expressed both alleles. Muller et al. (2002) identified differentially methylated regions in the promoter region of the SGCE gene as a characteristic feature of imprinted genes. Using a rare polymorphism in the promoter region in a family unaffected with myoclonus-dystonia, they demonstrated methylation of the maternal allele, in keeping with maternal imprinting of the SGCE gene. Loss of imprinting in the patient with myoclonus-dystonia who had biallelic expression of the SGCE gene was associated with partial loss of methylation at several CpG dinucleotides. </p><p>DeBerardinis et al. (2003) described a 32-month-old child with an interstitial deletion affecting 7q21 and a phenotype that included myoclonus, microcephaly, short stature, dysmorphic face, and language delay. They used FISH to estimate the size of the deletion (9.0 to 15 Mb) and to confirm absence of the SGCE gene on the affected chromosome. PCR analysis of polymorphic markers in the region revealed that the paternally inherited chromosome contained the deletion, consistent with a model of maternal SGCE imprinting. The patient appeared to represent a new contiguous gene disorder. </p><p>Using bisulfite genomic sequencing, Grabowski et al. (2003) studied the methylation pattern of CpG dinucleotides within the CpG island containing the promoter region and the first exon of the SGCE gene. In peripheral blood leukocytes from MDS patients, the maternal allele was methylated and the paternal allele unmethylated; in brain tissue, the maternal allele appeared to be completely methylated. Grabowski et al. (2003) concluded that these results provided strong evidence for maternal imprinting of the SGCE gene. </p><p>Asmus et al. (2005) identified 2 different large heterozygous deletions in the SGCE gene (604149.0010 and 604149.0011) in affected members from 2 unrelated families with myoclonic dystonia. The deletion was paternally inherited in all cases with motor symptoms. In 1 family, a man who inherited the mutation maternally did not have motor symptoms but did have alcohol dependence. </p><p>Tezenas du Montcel et al. (2006) identified 13 different mutations in the SGCE gene in 16 of 76 unrelated French Caucasian patients with myoclonus-dystonia or essential myoclonus. In 12 families (75%), at least 1 other family member was affected. Penetrance was complete in paternal transmissions and null in maternal transmissions. None of the patients had severe psychiatric disorders. </p><p>Esapa et al. (2007) performed in vitro functional expression studies with 3 different pathogenic mutations in the mouse Sgce gene, H36R, H36P, and L172R, which are homologous to the human disease-causing mutations H60R, H60P, and L195R (604149.0006), respectively. Studies in COS-7 cells, cortical neurons, and neuroblastoma cells showed mislocalization of the mutant proteins, with the mutant proteins either being retained in the endoplasmic reticulum or diffusely distributed in soma and dendrites rather than in discrete punctae like wildtype. Studies in HEK293 cells showed decreased levels of the mutant proteins resulting from ubiquitination and degradation by the proteosome. The L172R mutant appeared to be misfolded with a propensity to form aggregates, which was not demonstrated with either of the H60 mutants. Coexpression of the mutants with wildtype TOR1A resulted in a reduction in levels of the mutant proteins, suggesting that TOR1A can help clear mutant SGCE from the cell. The overall findings indicated that myoclonus-dystonia is caused by loss of function of SGCE at the plasma membrane. </p>
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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>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Imamura et al. (2005) established several transgenic mouse lines that overexpressed Sgce in skeletal muscle. Overexpression in normal mice resulted in substitution of Sgce for Sgca in the sarcoglycan complex of skeletal muscle without any obvious abnormalities. Mice overexpressing Sgce were crossed with Sgca-deficient mice, and Sgca-deficient mice overexpressing Sgce exhibited no skeletal muscle cell membrane damage or abnormal contraction. Imamura et al. (2005) suggested that overexpression of SGCE may represent a therapeutic strategy for treatment of LGMD2D (608099). </p>
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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>12 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 DYSTONIA 11, MYOCLONIC</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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SGCE, ARG97TER
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<br />
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SNP: rs121908489,
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gnomAD: rs121908489,
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ClinVar: RCV000006124, RCV000713248, RCV001267609, RCV004742214
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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 affected members of a family with myoclonus-dystonia syndrome (DYT11; 159900), Zimprich et al. (2001) found an arg97-to-ter (R97X) nonsense mutation in exon 3 of the SGCE gene. </p><p>Valente et al. (2005) identified the R97X mutation in 2 of 58 unrelated patients with a range of myoclonic/dystonic syndromes. Both patients had a phenotype consistent with myoclonus-dystonia syndrome. </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 DYSTONIA 11, MYOCLONIC</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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SGCE, ARG102TER
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<br />
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SNP: rs121908490,
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ClinVar: RCV000006125, RCV000713249, RCV004742215
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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 families with myoclonus-dystonia syndrome (DYT11; 159900), Zimprich et al. (2001) found that affected members had the same heterozygous nonsense mutation in the SGCE gene: a 304C-T transition causing an arg102-to-ter (R102X) amino acid change. In 1 of these families there was a demonstration of reduced penetrance in the offspring of an affected female, who had 2 unaffected sons, 1 of whom transmitted the disorder to a daughter. </p><p>Han et al. (2003) reported 2 families with myoclonus-dystonia syndrome caused by the R102X mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 DYSTONIA 11, MYOCLONIC</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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SGCE, 1-BP DEL, 565A
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<br />
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ClinVar: RCV002289463
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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 family with myoclonus-dystonia syndrome (DYT11; 159900) in an irregular autosomal dominant pedigree pattern, Zimprich et al. (2001) found that affected individuals had a 1-bp deletion, 565delA, leading to a frameshift of the coding region of the SGCE gene, with a premature stop at codon 169. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 DYSTONIA 11, MYOCLONIC</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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SGCE, 97-BP DEL
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<br />
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ClinVar: RCV000006127
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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 family with myoclonus-dystonia syndrome (DYT11; 159900), Zimprich et al. (2001) demonstrated a 97-bp deletion in the SGCE gene affecting intron 3 and 15 bp of exon 4. There were 2 affected members of the family, a grandmother who did not transmit the disorder to her son, who, however, had an affected daughter. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 DYSTONIA 11, MYOCLONIC</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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SGCE, 5-BP DEL, NT835
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<br />
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SNP: rs863223283,
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ClinVar: RCV000006128, RCV000516364
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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 family with myoclonus-dystonia syndrome (DYT11; 159900), first reported by Klein et al. (1999) and found to have a heterozygous mutation in the DRD2 gene (126450.0001), Klein et al. (2002) identified a 5-bp deletion in exon 7 of the SGCE gene (835_839delACAAA) in all 8 affected members. The mutation resulted in a frameshift and premature stop codon (Lys278fs295Ter). There were 2 unaffected carriers of both mutations. The contribution of each mutation to the clinical phenotype could not be determined, but the phenotype most likely resulted from the SGCE mutation because Klein et al. (1999) had shown that the DRD2 mutant was similar to wildtype and did not show impaired activity in in vitro studies. (See also Furukawa and Rajput, 2002). </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>.0006 DYSTONIA 11, MYOCLONIC</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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|
SGCE, LEU196ARG
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<br />
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SNP: rs121908491,
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ClinVar: RCV000006129
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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 sibs with myoclonus-dystonia syndrome (DYT11; 159900), first reported by Leung et al. (2001) and found to have a heterozygous 18-bp deletion in the DYT1 gene (TOR1A; 605204.0002), Klein et al. (2002) identified a 587T-G transversion in exon 5 of the SGCE gene, resulting in a leu196-to-arg substitution. The sibs had inherited the DYT1 deletion from their mother, who showed dystonic features, and the SGCE mutation from their father, who showed myoclonic features. The SGCE missense change was not detected in 500 control chromosomes. Doheny et al. (2002) described the clinical features of this family in greater detail. The proband had onset at age 5 years of myoclonic jerky movements of the legs and arms, which later progressed to the head, and dystonic features. Psychiatric evaluation revealed depression and anxiety. Her brother had onset of motor jerks at age 6 years, which later developed into multifocal myoclonus at rest, and dystonic posturing. Psychiatric evaluation revealed depression, anxiety and panic disorders, attention deficit disorder, and alcoholism. The mother, who carried the DYT1 mutation, had intermittent lip puckering, neck stiffness, tremulous voice, clumsiness, involuntary toe movements, and post-traumatic stress disorder after the death of her mother. No myoclonus was noted. The father, who carried the SGCE mutation, had occasional jerking of the upper limbs and action tremor. Psychiatric history was negative. The maternal grandfather, who carried the DYT1 mutation, reportedly had lip puckering and tremulous voice, as well as depression, anxiety and panic disorders, and posttraumatic stress disorder (PTSD). Doheny et al. (2002) noted that the clinical picture in this family is unique and that the contributions of each mutation to the clinical phenotype could not definitively be determined. (See also Furukawa and Rajput, 2002). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DYSTONIA 11, MYOCLONIC</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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SGCE, 1-BP INS, 885T
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<br />
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SNP: rs863223284,
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ClinVar: RCV000006130
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 5-generation Dutch family with myoclonus-dystonia syndrome (DYT11; 159900) in which 3 of 5 affected members also had seizures, Foncke et al. (2003) identified a 1-bp insertion in the SGCE gene, 885_886insT, resulting in a frameshift and subsequent protein termination at amino acid 297. One asymptomatic 21-year-old individual in the fifth generation also carried the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0008 DYSTONIA 11, MYOCLONIC</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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SGCE, 1-BP DEL, 974C
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<br />
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SNP: rs1584531843,
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ClinVar: RCV000006131
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large family in which 9 individuals were affected with myoclonus-dystonia syndrome (DYT11; 159900), Hjermind et al. (2003) identified a 1-bp deletion (974delC) in exon 7 of the SGCE gene, resulting in a premature stop at codon 325. Affected individuals had prominent symptoms in their legs, and children in the fourth generation were particularly severely affected. In addition, affected individuals had laryngeal involvement causing vocal myoclonus. Three of 12 gene carriers (25%) were unaffected, showing incomplete penetrance of the disorder. </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>.0009 DYSTONIA 11, MYOCLONIC</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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SGCE, ARG372TER
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<br />
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SNP: rs121908492,
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ClinVar: RCV000006132, RCV003311652
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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 of 58 unrelated patients with a range of myoclonic/dystonic syndromes, Valente et al. (2005) identified a heterozygous mutation in the SGCE gene, resulting in an arg372-to-ter (R372X) substitution. Both patients had a phenotype consistent with myoclonus-dystonia syndrome (DYT11; 159900). </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>.0010 DYSTONIA 11, MYOCLONIC</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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SGCE, 15,020-BP DEL, EX5DEL
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<br />
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ClinVar: RCV000006133
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 5 affected members of a German pedigree with myoclonus-dystonia syndrome (DYT11; 159900), Asmus et al. (2005) identified a heterozygous 15,020-bp deletion in the SGCE gene, resulting in the deletion of exon 5 and termination before the transmembrane domain. The deletion was paternally inherited in all cases. Asmus et al. (2005) suggested nonhomologous end joining as the molecular mechanism for the deletion. </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>.0011 DYSTONIA 11, MYOCLONIC</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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SGCE, 6,872-BP DEL, EX6DEL
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<br />
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ClinVar: RCV000006134
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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 sibs from a Danish family with myoclonus-dystonia syndrome (DYT11; 159900), Asmus et al. (2005) identified a heterozygous 6,872-bp deletion in the SGCE gene, resulting in the deletion of exon 6 and termination before the transmembrane domain. The deletion was paternally inherited in both cases. Their father, who inherited the mutation maternally, did not have motor symptoms, but did have alcohol dependence. Asmus et al. (2005) suggested nonhomologous end joining as the molecular mechanism for the deletion. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0012 DYSTONIA 11, MYOCLONIC</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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SGCE, 2-BP DEL, 619AG
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<br />
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SNP: rs863223285,
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ClinVar: RCV000006135
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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 affected members of a large Dutch family with myoclonus-dystonia syndrome (DYT11; 159900) reported by Korten et al. (1974), Foncke et al. (2006) identified a heterozygous 2-bp deletion (619_620delAG) in exon 5 of the SGCE gene, resulting in a frameshift and premature termination (Arg207GlyfsTer215). The mutation was identified in all 19 symptomatic relatives, all 5 'possibly affected' relatives, and in 9 clinically unaffected relatives. All symptomatic individuals inherited the mutation from their father, and all asymptomatic individuals inherited it from their mother. Foncke et al. (2006) noted that subtle distal myoclonus of the fingers was a prominent feature in this family. </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>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T.
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<strong>Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.</strong>
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<p class="mim-text-font">
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Asmus, F., Zimprich, A., Tezenas du Montcel, S., Kabus, C., Deuschl, G., Kupsch, A., Ziemann, U., Castro, M., Kuhn, A. A., Strom, T. M., Vidailhet, M., Bhatia, K. P., Durr, A., Wood, N. W., Brice, A., Gasser, T.
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DeBerardinis, R. J., Conforto, D., Russell, K., Kaplan, J., Kollros, P. R., Zackai, E. H., Emanuel, B. S.
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<strong>Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.</strong>
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Doheny, D., Danisi, F., Smith, C., Morrison, C., Velickovic, M., de Leon, D., Bressman, S. B., Leung, J., Ozelius, L., Klein, C., Breakefield, X. O., Brin, M. F., Silverman, J. M.
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<strong>Clinical findings of a myoclonus-dystonia family with two distinct mutations.</strong>
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Esapa, C. T., Waite, A., Locke, M., Benson, M. A., Kraus, M., McIlhinney, R. A. J., Sillitoe, R. V., Beesley, P. W., Blake, D. J.
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<strong>SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.</strong>
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Ettinger, A. J., Feng, G., Sanes, J. R.
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<strong>Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.</strong>
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Foncke, E. M. J., Gerrits, M. C. F., van Ruissen, F., Baas, F., Hedrich, K., Tijssen, C. C., Klein, C., Tijssen, M. A. J.
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<strong>Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.</strong>
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Foncke, E. M. J., Klein, C., Koelman, J. H. T. M., Kramer, P. L., Schilling, K., Muller, B., Garrels, J., de Carvalho Aguiar, P., Liu, L., de Froe, A., Speelman, J. D., Ozelius, L. J., Tijssen, M. A. J.
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Furukawa, Y., Rajput, A. H.
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<strong>The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.</strong>
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Han, F., Lang, A. E., Racacho, L., Bulman, D. E., Grimes, D. A.
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<strong>Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.</strong>
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Imamura, M., Mochizuki, Y., Engvall, E., Takeda, S.
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<strong>Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.</strong>
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Klein, C., Brin, M. F., Kramer, P., Sena-Esteves, M., de Leon, D., Doheny, D., Bressman, S., Fahn, S., Breakefield, X. O., Ozelius, L. J.
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<strong>Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.</strong>
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McNally, E. M., Ly, C. T., Kunkel, L. M.
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Muller, B., Hedrich, K., Kock, N., Dragasevic, N., Svetel, M., Garrels, J., Landt, O., Nitschke, M., Pramstaller, P. P., Reik, W., Schwinger, E., Sperner, J., Ozelius, L., Kostic, V., Klein, C.
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<strong>Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.</strong>
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Nishiyama, A., Endo, T., Takeda, S., Imamura, M.
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Piras, G., El Kharroubi, A., Kozlov, S., Escalante-Alcalde, D., Hernandez, L., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Stewart, C. L.
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<strong>Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.</strong>
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Molec. Cell. Biol. 20: 3308-3315, 2000.
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[PubMed: 10757814]
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Ritz, K., van Schaik, B. D., Jakobs, M. E., van Kampen, A. H., Aronica, E., Tijssen, M. A., Baas, F.
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<strong>SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?</strong>
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Europ. J. Hum. Genet. 19: 438-444, 2011.
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[PubMed: 21157498]
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[Full Text: https://doi.org/10.1038/ejhg.2010.206]
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<p class="mim-text-font">
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Tezenas du Montcel, S., Clot, F., Vidailhet, M., Roze, E., Damier, P., Jedynak, C. P., Camuzat, A., Lagueny, A., Vercueil, L., Doummar, D., Guyant-Marechal, L., Houeto, J.-L., and 10 others.
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<strong>Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.</strong>
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<p class="mim-text-font">
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Valente, E. M., Edwards, M. J., Mir, P., DiGiorgio, A., Salvi, S., Davis, M., Russo, N., Bozi, M., Kim, H.-T., Pennisi, G., Quinn, N., Dallapiccola, B., Bhatia, K. P.
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<strong>The epsilon-sarcoglycan gene in myoclonic syndromes.</strong>
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Neurology 64: 737-739, 2005.
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[PubMed: 15728306]
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[Full Text: https://doi.org/10.1212/01.WNL.0000151979.68010.9B]
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<p class="mim-text-font">
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Yokoi, F., Dang, M. T., Mitsui, S., Li, Y.
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<strong>Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.</strong>
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FEBS Lett. 579: 4822-4828, 2005.
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[PubMed: 16099459]
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<p class="mim-text-font">
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Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T.
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<strong>Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.</strong>
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Nature Genet. 29: 66-69, 2001.
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[PubMed: 11528394]
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[Full Text: https://doi.org/10.1038/ng709]
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Cassandra L. Kniffin - updated : 6/8/2011<br>Cassandra L. Kniffin - updated : 7/8/2010<br>George E. Tiller - updated : 4/25/2008<br>Cassandra L. Kniffin - updated : 8/29/2007<br>Cassandra L. Kniffin - updated : 6/12/2006<br>Cassandra L. Kniffin - updated : 3/3/2006<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Marla J. F. O'Neill - updated : 5/12/2004<br>Victor A. McKusick - updated : 8/25/2003<br>Cassandra L. Kniffin - updated : 8/12/2003<br>Cassandra L. Kniffin - updated : 8/8/2003<br>Victor A. McKusick - updated : 1/8/2003<br>Cassandra L. Kniffin - updated : 12/26/2002<br>Cassandra L. Kniffin - updated : 12/4/2002<br>Victor A. McKusick - updated : 8/23/2001
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Patti M. Sherman : 9/1/1999
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