4625 lines
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Entry
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- *300384 - EMERIN; EMD
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300384</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300384">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000102119;t=ENST00000369842" 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=2010" 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=300384" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000102119;t=ENST00000369842" 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_000117" 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_000117" 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=300384" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02309&isoform_id=02309_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/EMD" 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/600619,1203970,1706639,1794156,2564243,4557553,12653891,30583641,49168556,119593148,119593149,2462628610,2462628612" 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/P50402" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2010" 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=ENSG00000102119;t=ENST00000369842" 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=EMD" 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=EMD" 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+2010" 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/EMD" 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:2010" 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/2010" 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=chrX&hgg_gene=ENST00000369842.9&hgg_start=154379295&hgg_end=154381523&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/emd" 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=300384[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=300384[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://www.deciphergenomics.org/gene/EMD/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000102119" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=EMD" 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=EMD" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/EMD" title="Leiden Muscular Dystrophy Pages" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Leiden Muscular Dystrophy …</a></div><div style="margin-left: 0.5em;"><a href="http://www.umd.be/EMD/" title="The UMD EMD mutations database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">The UMD EMD mutations data…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EMD&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/PA27766" 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:3331" 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://www.mousephenotype.org/data/genes/MGI:108117" 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/EMD#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:108117" 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/2010/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=2010" 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://zfin.org/ZDB-GENE-070501-2" 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="mimCellLines">
|
|
<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:300384" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:2010" 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=EMD&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> 1156836006<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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300384
|
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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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EMERIN; EMD
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
STA
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EMD" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EMD</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/858?start=-3&limit=10&highlight=858">Xq28</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:154379295-154381523&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'})">X:154,379,295-154,381,523</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
|
</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/858?start=-3&limit=10&highlight=858">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Emery-Dreifuss muscular dystrophy 1, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/310300"> 310300 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
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<p>The EMD gene encodes a ubiquitous protein, emerin, that is found along the nuclear rim of many cell types and is a member of the nuclear lamina-associated protein family. Mutation in the EMD gene has been found to cause the Emery-Dreifuss type of muscular dystrophy (EDMD; <a href="/entry/310300">310300</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Bione, S., Tamanini, F., Maestrini, E., Tribioli, C., Poustka, A., Torri, G., Rivella, S., Toniolo, D. <strong>Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.</strong> Proc. Nat. Acad. Sci. 90: 10977-10981, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8248200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8248200</a>] [<a href="https://doi.org/10.1073/pnas.90.23.10977" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8248200">Bione et al. (1993)</a> constructed a transcriptional map of the 2-Mb region of Xq28 to which the Emery-Dreifuss muscular dystrophy locus had been mapped by linkage studies. Within this region, they identified the STA gene. <a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> determined that STA (EMD) encodes a 254-amino acid protein, termed emerin, which lacks a signal peptide, contains a long N-terminal domain, and is hydrophilic except for a highly hydrophobic 20-amino acid sequence at the C-terminal region. It has several putative phosphorylation sites and 1 potential glycosylation site. Northern blot analysis demonstrated ubiquitous expression of a major, approximately 1-kb transcript, with highest expression in skeletal muscle and heart and abundant expression in other tissues, including colon, testis, ovary, and placenta. <a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> suggested that emerin belongs to a class of tail-anchored membrane proteins of the secretory pathway involved in vesicular transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8248200+7894480" 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="Manilal, S., Nguyen thi Man, Sewry, C. A., Morris, G. E. <strong>The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.</strong> Hum. Molec. Genet. 5: 801-808, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8776595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8776595</a>] [<a href="https://doi.org/10.1093/hmg/5.6.801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8776595">Manilal et al. (1996)</a> developed a panel of 12 monoclonal antibodies to a large fragment of emerin cDNA prepared by PCR and expressed as a recombinant protein in E. coli. These antibodies detected 4 different epitopes on emerin. All monoclonal antibodies recognized a 34-kD protein in all tissues tested. Immunofluorescence and cell fractionation studies confirmed that emerin is located in the nuclear membrane. Amino acid sequence similarities and cellular localization suggested that emerin is a member of the nuclear lamina-associated protein family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8776595" 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="#26" class="mim-tip-reference" title="Small, K., Wagener, M., Warren, S. T. <strong>Isolation and characterization of the complete mouse emerin gene.</strong> Mammalian Genome 8: 337-341, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9107678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9107678</a>] [<a href="https://doi.org/10.1007/s003359900435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9107678">Small et al. (1997)</a> isolated and characterized the complete mouse emerin gene. The 2.9-kb mouse emerin gene comprises 6 exons and encodes a protein 73% identical to that of the human protein. As in the human, the gene encodes a serine-rich protein similar to lamina-associated protein-2 (LAP2; <a href="/entry/188380">188380</a>) and shows critical LAP2 phosphorylation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9107678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Bione, S., Small, K., Aksmanovic, V. M. A., D'Urso, M., Ciccodicola, A., Merlini, L., Morandi, L., Kress, W., Yates, J. R. W., Warren, S. T., Toniolo, D. <strong>Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.</strong> Hum. Molec. Genet. 4: 1859-1863, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595407</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595407">Bione et al. (1995)</a> reported the sequence of the EMD gene, which is 2,100 bp long. The gene contains 6 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595407" 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="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> identified the EMD gene on a transcriptional map of Xq28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" 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="#8" class="mim-tip-reference" title="Cartegni, L., Raffaele di Barletta, M., Barresi, R., Squarzoni, S., Sabatelli, P., Maraldi, N., Mora, M., Di Blasi, C., Cornelio, F., Merlini, L., Villa, A., Cobianchi, F., Toniolo, D. <strong>Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.</strong> Hum. Molec. Genet. 6: 2257-2264, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361031</a>] [<a href="https://doi.org/10.1093/hmg/6.13.2257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9361031">Cartegni et al. (1997)</a> reported that emerin localizes to the inner nuclear membrane via its hydrophobic C-terminal domain, but that in heart and cultured cardiomyocytes, it is also associated with the intercalated discs. They proposed a general role for emerin in membrane anchorage to the cytoskeleton. In the nuclear envelope, emerin plays a ubiquitous and indispensable role in association of the nuclear membrane with the lamina. In heart, it is specifically located to desmosomes and fasciae adherentes. Desmosomes and fasciae adherentes anchor desmin-containing intermediate filaments and the bundles of sarcomeric myofilaments, respectively. They consist of transmembrane adhesive glycoproteins, members of the cadherin superfamily, and of cytoplasmic proteins such as vinculin (<a href="/entry/193065">193065</a>), catenins, and actin-binding proteins. Different assortments of the same or similar proteins in desmosomes, fasciae adherentes, focal adhesions, and other adhesive junctions seem to confer specific functions to ensure cell-cell communication and tight adhesion between cells and to the extracellular matrix. The role of this complex assortment of proteins is best demonstrated by the existence of many genetic diseases that perturb adhesion and in the heart by the dramatic consequences of plakoglobin (gamma-catenin) knockout (<a href="#24" class="mim-tip-reference" title="Ruiz, P., Brinkmann, V., Ledermann, B., Behrend, M., Grund, C., Thalhammer, C., Vogel, F., Birchmeier, C., Gunthert, U., Franke, W. W., Birchmeier, W. <strong>Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart.</strong> J. Cell Biol. 135: 215-225, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858175</a>] [<a href="https://doi.org/10.1083/jcb.135.1.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858175">Ruiz et al., 1996</a>): plakoglobin -/- mice die at midgestation due to rupture of the ventricles. In heart, the specific localization of emerin to desmosomes and fasciae adherentes could account for the characteristic conduction defects described in patients with Emery-Dreifuss muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8858175+9361031" 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="#33" class="mim-tip-reference" title="Yorifuji, H., Tadano, Y., Tsuchiya, Y., Ogawa, M., Goto, K., Umetani, A., Asaka, Y., Arahata, K. <strong>Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane.</strong> Neurogenetics 1: 135-140, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732816</a>] [<a href="https://doi.org/10.1007/s100480050020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10732816">Yorifuji et al. (1997)</a> likewise demonstrated that emerin is localized at the inner nuclear membrane. Studies for ultrastructural localization of the protein in human skeletal muscle and HeLa cells, using ultrathin cryosections, showed that immune-labeled colloidal gold particles were localized on the nucleoplasmic surface of the inner nuclear membrane, but not on the nuclear pore. They interpreted their results as indicating that emerin anchors at the inner nuclear membrane through the hydrophobic stretch and protrudes from the hydrophilic region to the nucleoplasm where it interacts with the nuclear lamina. They speculated that emerin contributes to maintenance of the nuclear structure and stability, as well as nuclear functions, particularly in muscle tissues that have severe stress with rigorous contraction-relaxation movements and calcium flux. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10732816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By mutation analysis, <a href="#18" class="mim-tip-reference" title="Lee, K. K., Haraguchi, T., Lee, R. S., Koujin, T., Hiraoka, Y., Wilson, K. L. <strong>Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.</strong> J. Cell Sci. 114: 4567-4573, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11792821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11792821</a>] [<a href="https://doi.org/10.1242/jcs.114.24.4567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11792821">Lee et al. (2001)</a> determined that several, but not all, disease mutations in emerin map to a central lamin A (LMNA; <a href="/entry/150330">150330</a>)-binding domain, and that mutations in this region disrupt emerin-lamin A interaction. They also found that emerin binds directly to BAF (BANF1; <a href="/entry/603811">603811</a>), a DNA-bridging protein, and this binding required conserved residues in the N-terminal LEM domain of emerin. The disease-linked emerin proteins all remained active for BAF binding both in vitro and in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11792821" 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="Haraguchi, T., Koujin, T., Segura-Totten, M., Lee, K. K., Matsuoka, Y., Yoneda, Y., Wilson, K. L., Hiraoka, Y. <strong>BAF is required for emerin assembly into the reforming nuclear envelope.</strong> J. Cell Sci. 114: 4575-4585, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11792822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11792822</a>] [<a href="https://doi.org/10.1242/jcs.114.24.4575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11792822">Haraguchi et al. (2001)</a> visualized colocalization between emerin and BAF at the 'core' region of chromosomes during telophase in HeLa cells. An emerin mutant defective in BAF binding in vitro failed to localize at the core in vivo and subsequently failed to localize at the reformed nuclear envelope. In HeLa cells expressing a BAF mutant that did not show core localization, endogenous emerin failed to localize at the core region during telophase and did not assemble into the nuclear envelope during the subsequent interphase. This BAF mutant also dominantly dislocalized LAP2-beta (<a href="/entry/188380">188380</a>) and lamin A from the nuclear envelope. <a href="#12" class="mim-tip-reference" title="Haraguchi, T., Koujin, T., Segura-Totten, M., Lee, K. K., Matsuoka, Y., Yoneda, Y., Wilson, K. L., Hiraoka, Y. <strong>BAF is required for emerin assembly into the reforming nuclear envelope.</strong> J. Cell Sci. 114: 4575-4585, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11792822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11792822</a>] [<a href="https://doi.org/10.1242/jcs.114.24.4575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11792822">Haraguchi et al. (2001)</a> concluded that BAF is required for the assembly of emerin and A-type lamins at the reforming nuclear envelope during telophase and may mediate their stability in the subsequent interphase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11792822" 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 protein pull-down and coimmunoprecipitation assays, <a href="#19" class="mim-tip-reference" title="Libotte, T., Zaim, H., Abraham, S., Padmakumar, V. C., Schneider, M., Lu, W., Munck, M., Hutchison, C., Wehnert, M., Fahrenkrog, B., Sauder, U., Aebi, U., Noegel, A. A., Karakesisoglou, I. <strong>Lamin A/C-dependent localization of nesprin-2, a giant scaffolder at the nuclear envelope.</strong> Molec. Biol. Cell 16: 3411-3424, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15843432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15843432</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15843432[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/10.1091/mbc.e04-11-1009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15843432">Libotte et al. (2005)</a> found that a C-terminal region of the nuclear membrane scaffold protein nesprin-2 (SYNE2; <a href="/entry/608442">608442</a>) bound directly to emerin in vitro and in vivo. Knockdown of nesprin-2 in COS-7 cells caused redistribution of emerin away from the nuclear envelope. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15843432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Jacque, J.-M., Stevenson, M. <strong>The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.</strong> Nature 441: 641-645, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16680152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16680152</a>] [<a href="https://doi.org/10.1038/nature04682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16680152">Jacque and Stevenson (2006)</a> examined susceptibility of primary macrophages to human immunodeficiency virus (HIV)-1 infection following short interfering RNA (siRNA)-mediated silencing of nuclear lamins and several lamin-associated proteins. They found that silencing of emerin and BAF prevented infection with HIV-1, but not murine leukemia virus, by preventing integration of the virus into host DNA. Chromatin immunoprecipitation analysis identified emerin and BAF as cooperative cofactors of HIV-1, and mutation analysis showed that viral cDNA did not associate with BAF defective in emerin binding or with emerin lacking the LEM domain. <a href="#16" class="mim-tip-reference" title="Jacque, J.-M., Stevenson, M. <strong>The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.</strong> Nature 441: 641-645, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16680152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16680152</a>] [<a href="https://doi.org/10.1038/nature04682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16680152">Jacque and Stevenson (2006)</a> concluded that HIV-1 cDNA, upon entering the nucleus, must interact with emerin to contact chromatin, and they suggested that molecules that prevent this interaction might promote abortive HIV-1 infection of a cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16680152" 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 RNA interference, <a href="#15" class="mim-tip-reference" title="Huber, M. D., Guan, T., Gerace, L. <strong>Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation.</strong> Molec. Cell. Biol. 29: 5718-5728, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19720741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19720741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19720741[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.00270-09" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19720741">Huber et al. (2009)</a> found that knockdown of Net25 (LEMD2; <a href="/entry/616312">616312</a>) or emerin in C2C12 mouse myoblast cells inhibited myogenic differentiation upon shift to differentiation medium. Knockdown of either Net25 or emerin also resulted in elevated Erk1 (MAPK3; <a href="/entry/601795">601795</a>) activation. Pharmacologic inhibition of Erk activation rescued myogenic differentiation in Net25- or emerin-knockdown cultures. Expression of human NET25 in mouse Net25 and emerin double-knockdown cultures also rescued differentiation, suggesting redundant roles for Net25 and emerin in C2C12 cell differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19720741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Ho, C. Y., Jaalouk, D. E., Vartiainen, M. K., Lammerding, J. <strong>Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics.</strong> Nature 497: 507-511, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23644458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23644458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23644458[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/nature12105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23644458">Ho et al. (2013)</a> demonstrated that ectopic expression of emerin, which is mislocalized in Lmna-null and Lmna(N195K/N195K) (see <a href="/entry/150330#0007">150330.0007</a>) mutant cells, restored nuclear translocation of the mechanosensitive transcription factor megakaryoblastic leukemia-1 (MKL1; <a href="/entry/606078">606078</a>) and rescued actin dynamics. These data indicated that emerin is a crucial modulator of actin polymerization and that loss of emerin from the nuclear envelope causes disturbed actin dynamics and impaired MKL1 signaling. <a href="#13" class="mim-tip-reference" title="Ho, C. Y., Jaalouk, D. E., Vartiainen, M. K., Lammerding, J. <strong>Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics.</strong> Nature 497: 507-511, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23644458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23644458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23644458[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/nature12105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23644458">Ho et al. (2013)</a> concluded that these and other findings suggested a novel mechanism that could provide insight into the disease etiology for the cardiac phenotype in many laminopathies, whereby lamin A/C and emerin regulate gene expression through modulation of nuclear and cytoskeletal actin polymerization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23644458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By mass spectrometric analysis, <a href="#25" class="mim-tip-reference" title="Shin, J.-Y., Mendez-Lopez, I., Wang, Y., Hays, A. P., Tanji, K., Lefkowitch, J. H., Schulze, P. C., Worman, H. J., Dauer, W. T. <strong>Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.</strong> Dev. Cell 26: 591-603, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24055652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24055652</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24055652[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/10.1016/j.devcel.2013.08.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24055652">Shin et al. (2013)</a> found that epitope-tagged human LAP1 (TOR1AIP1; <a href="/entry/614512">614512</a>) interacted with emerin and lamin A in transfected HEK293 cells. Coimmunoprecipitation analysis confirmed interaction of endogenous LAP1 and emerin. Domain mapping revealed that emerin and LAP1 interacted via their nucleoplasmic domains. Use of knockout mouse fibroblasts showed that loss of Lap1 mislocalized emerin to distinct foci along the nuclear envelope, whereas loss of emerin had little effect on Lap1 localization in the nuclear envelope. <a href="#25" class="mim-tip-reference" title="Shin, J.-Y., Mendez-Lopez, I., Wang, Y., Hays, A. P., Tanji, K., Lefkowitch, J. H., Schulze, P. C., Worman, H. J., Dauer, W. T. <strong>Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.</strong> Dev. Cell 26: 591-603, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24055652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24055652</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24055652[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/10.1016/j.devcel.2013.08.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24055652">Shin et al. (2013)</a> concluded that LAP1 contributes to immobilization of emerin in the inner nuclear membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24055652" 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 5 patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD1; <a href="/entry/310300">310300</a>), <a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> identified mutations in the EMD gene (<a href="#0001">300384.0001</a>-<a href="#0005">300384.0005</a>). These mutations resulted in the loss of all or part of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Ellis, J. A., Yates, J. R. W., Kendrick-Jones, J., Brown, C. A. <strong>Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.</strong> Hum. Genet. 104: 262-268, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323252</a>] [<a href="https://doi.org/10.1007/s004390050946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10323252">Ellis et al. (1999)</a> stated that more than 70 different mutations had been identified in the emerin gene. They described 2 missense mutations involving proline-183: P183H (<a href="#0008">300384.0008</a>) and P183T (<a href="#0009">300384.0009</a>). Biochemical analyses had demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from those of wildtype emerin, but that they have weakened interactions with nuclear lamina components. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10323252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large consanguineous Algerian family segregating isolated atrial cardiac conduction defects and Emery-Dreifuss muscular dystrophy, <a href="#1" class="mim-tip-reference" title="Ben Yaou, R., Toutain, A., Arimura, T., Demay, L., Massart, C., Peccate, C., Muchir, A., Llense, S., Deburgreave, N., Leturcq, F., Litim, K. E., Rahmoun-Chiali, N., Richard, P., Babuty, D., Recan-Budiartha, D., Bonne, G. <strong>Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism?</strong> Neurology 68: 1883-1894, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17536044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17536044</a>] [<a href="https://doi.org/10.1212/01.wnl.0000263138.57257.6a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17536044">Ben Yaou et al. (2007)</a> identified a deletion of lys37 (delK37) in the EMD gene. Two men with EDMD were hemizygous for the mutation and homozygous for an LMNA mutation (<a href="/entry/150330#0020">150330.0020</a>). Three males who were hemizygous for delK37 developed isolated atrial cardiac conduction defects in their forties; 1 asymptomatic male carrier was 32 years old. Three of 5 women heterozygous for delK37 also had cardiac disease. <a href="#1" class="mim-tip-reference" title="Ben Yaou, R., Toutain, A., Arimura, T., Demay, L., Massart, C., Peccate, C., Muchir, A., Llense, S., Deburgreave, N., Leturcq, F., Litim, K. E., Rahmoun-Chiali, N., Richard, P., Babuty, D., Recan-Budiartha, D., Bonne, G. <strong>Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism?</strong> Neurology 68: 1883-1894, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17536044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17536044</a>] [<a href="https://doi.org/10.1212/01.wnl.0000263138.57257.6a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17536044">Ben Yaou et al. (2007)</a> stated that this was the first report of an EMD mutation giving rise to isolated cardiac disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17536044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Brown, C. A., Scharner, J., Felice, K., Meriggioli, M. N., Tarnopolsky, M., Bower, M., Zammit, P. S., Mendell, J. R., Ellis, J. A. <strong>Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hotspot.</strong> J. Hum. Genet. 56: 589-594, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21697856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21697856</a>] [<a href="https://doi.org/10.1038/jhg.2011.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21697856">Brown et al. (2011)</a> identified pathogenic mutations in the EMD gene in 23 (9.0%) of 255 North American patients referred for testing for EDMD. There were 8 novel and 10 recurrent mutations. Most (90.5%) of the mutations were predicted to result in a severely truncated or lack of protein. Analysis of 130 EMD mutations indicated that exon 2 may be a hotspot, perhaps owing to the high GC content. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21697856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Frock, R. L., Kudlow, B. A., Evans, A. M., Jameson, S. A., Hauschka, S. D., Kennedy, B. K. <strong>Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.</strong> Genes Dev. 20: 486-500, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16481476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16481476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16481476[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/10.1101/gad.1364906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16481476">Frock et al. (2006)</a> found that most cultured muscle cells from Lmna knockout mice exhibited impaired differentiation kinetics and reduced differentiation potential. Similarly, knockdown of Lmna or emerin expression by RNA interference in normal muscle cells impaired differentiation potential and reduced expression of muscle-specific genes, Myod (<a href="/entry/159970">159970</a>) and desmin (<a href="/entry/125660">125660</a>). To determine whether impaired myogenesis was linked to reduced Myod or desmin levels, <a href="#11" class="mim-tip-reference" title="Frock, R. L., Kudlow, B. A., Evans, A. M., Jameson, S. A., Hauschka, S. D., Kennedy, B. K. <strong>Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.</strong> Genes Dev. 20: 486-500, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16481476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16481476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16481476[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/10.1101/gad.1364906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16481476">Frock et al. (2006)</a> individually expressed these proteins in Lmna-null myoblasts and found that both increased the differentiation potential of mutant myoblasts. <a href="#11" class="mim-tip-reference" title="Frock, R. L., Kudlow, B. A., Evans, A. M., Jameson, S. A., Hauschka, S. D., Kennedy, B. K. <strong>Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.</strong> Genes Dev. 20: 486-500, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16481476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16481476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16481476[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/10.1101/gad.1364906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16481476">Frock et al. (2006)</a> concluded that LMNA and emerin are required for myogenic differentiation, at least in part, through an effect on expression of critical myoblast proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16481476" 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 Western blot analysis, <a href="#25" class="mim-tip-reference" title="Shin, J.-Y., Mendez-Lopez, I., Wang, Y., Hays, A. P., Tanji, K., Lefkowitch, J. H., Schulze, P. C., Worman, H. J., Dauer, W. T. <strong>Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.</strong> Dev. Cell 26: 591-603, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24055652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24055652</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24055652[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/10.1016/j.devcel.2013.08.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24055652">Shin et al. (2013)</a> confirmed that mouse skeletal muscle had diminished expression of emerin compared with human. Conversely, LAP1 expression was significantly higher in mouse than human striated muscle. <a href="#25" class="mim-tip-reference" title="Shin, J.-Y., Mendez-Lopez, I., Wang, Y., Hays, A. P., Tanji, K., Lefkowitch, J. H., Schulze, P. C., Worman, H. J., Dauer, W. T. <strong>Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.</strong> Dev. Cell 26: 591-603, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24055652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24055652</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24055652[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/10.1016/j.devcel.2013.08.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24055652">Shin et al. (2013)</a> stated that deletion of Lap1 in mice is perinatal lethal. They found that mice with conditional deletion of Lap1 in striated muscle were indistinguishable from controls at birth, but they developed progressive myopathy in several muscle groups that resulted in early death. Lap1 mutant mice also showed abnormal emerin localization in myofibers. Conditional deletion of Lap1 from liver caused no overt phenotype. Loss of emerin alone (Emd -/y mice) did not affect life span or cause any overt phenotype, but it exacerbated myopathy when combined with muscle-specific Lap1 knockout. Mice lacking striated muscle Lap1 or Lap1 and emerin also had significantly decreased left ventricular fractional shortening compared with controls. <a href="#25" class="mim-tip-reference" title="Shin, J.-Y., Mendez-Lopez, I., Wang, Y., Hays, A. P., Tanji, K., Lefkowitch, J. H., Schulze, P. C., Worman, H. J., Dauer, W. T. <strong>Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.</strong> Dev. Cell 26: 591-603, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24055652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24055652</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24055652[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/10.1016/j.devcel.2013.08.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24055652">Shin et al. (2013)</a> concluded that LAP1 and emerin interact physically and functionally in skeletal muscle maintenance, but that there are significant differences in the contributions of these proteins to myopathy in humans and mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24055652" 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=300384[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011921" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011921" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011921</a>
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<p><a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> described deletion of nucleotides 564 and 565 in the EMD gene in affected members of a family with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>). This resulted in a frameshift and a stop codon after amino acid 207. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" 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">rs267606782 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606782;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=rs267606782" 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=rs267606782" 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=RCV000254894 OR RCV000802953" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000254894, RCV000802953" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000254894...</a>
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<p>In affected members of a family with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> described an A-to-G transition at nucleotide 59 of the EMD gene, abolishing the ATG methionine initiator codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" 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=RCV000011923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011923</a>
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<p>In the affected members of a family with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> found deletion of nucleotides 113 to 141 of the EMD gene, resulting in a frameshift and a stop codon after amino acid 21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" 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">rs2148128153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148128153;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=rs2148128153" 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=rs2148128153" 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=RCV000011924" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011924" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011924</a>
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<p>In affected members of a family with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> found insertion of 2 basepairs after nucleotide 198 of the EMD gene, resulting in a frameshift and a stop codon after amino acid 64. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" 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">rs2148128459 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148128459;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=rs2148128459" 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=rs2148128459" 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=RCV001877850" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001877850" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001877850</a>
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<p>In affected members of a family with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#2" class="mim-tip-reference" title="Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D. <strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 8: 323-327, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>] [<a href="https://doi.org/10.1038/ng1294-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894480">Bione et al. (1994)</a> found an A-to-G transition at the -3 position in a 3-prime splice junction of the EMD gene. The mutation was first detected as an abnormality in the sequence of an RT-PCR product which showed insertion of 214 bp at nucleotide 324. The nucleotide sequence of the genomic fragments confirmed that the 214-bp insertion was an unspliced intron. In the presence of the mutation, alternative 3-prime splice junctions were used at position -87 of the same intron and position 365 in the next exon, giving 2 additional bands of size intermediate between the normal and the band reflecting the 214-bp insertion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" 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>.0006 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630262 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630262;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=rs132630262" 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=rs132630262" 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=RCV000011926 OR RCV000078128 OR RCV002381248" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011926, RCV000078128, RCV002381248" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011926...</a>
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<p><a href="#17" class="mim-tip-reference" title="Klauck, S., Wilgenbus, P., Yates, J. R. W., Muller, C. R., Poustka, A. <strong>Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.</strong> Hum. Molec. Genet. 4: 1853-1857, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595406</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595406">Klauck et al. (1995)</a> identified novel mutations in 3 families with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>). One of these was a C-to-T transition at nucleotide 188, resulting in a change of codon 43 from CAG (gln) to a stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</strong>
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EMD, 1-BP DEL, FS236TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148128932 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148128932;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=rs2148128932" 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=rs2148128932" 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=RCV000011927" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011927" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011927</a>
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<p>In a patient with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#29" class="mim-tip-reference" title="Yamada, T., Kobayashi, T. <strong>A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.</strong> Hum. Genet. 97: 693-694, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8655156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8655156</a>] [<a href="https://doi.org/10.1007/BF02281886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8655156">Yamada and Kobayashi (1996)</a> found that the emerin gene carried a 1-bp deletion of C at nucleotide 672 or 673. This deletion caused a frameshift leading to change in the amino acid sequence (amino acids 206-235) and generating an early stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8655156" 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>.0008 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</strong>
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EMD, PRO183HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894805 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894805;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=rs104894805" 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=rs104894805" 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=RCV001224353" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001224353" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001224353</a>
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<p>In a man with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#10" class="mim-tip-reference" title="Ellis, J. A., Yates, J. R. W., Kendrick-Jones, J., Brown, C. A. <strong>Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.</strong> Hum. Genet. 104: 262-268, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323252</a>] [<a href="https://doi.org/10.1007/s004390050946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10323252">Ellis et al. (1999)</a> identified a pro183-to-his mutation in the EMD gene, which they called the STA gene. The patient was first referred to a neurologist at age 31 because of back pain, weakness in the legs greater than the arms, and leg numbness. As a child, he had been limited in his participation in athletics in school. Upper limb weakness was noticed in childhood, but no lower limb weakness was noted until age 25. He developed a burning-quality low back pain at age 27 which radiated into the posterior aspect of both legs. He had developed third-degree heart block requiring a pacemaker. There were mild contractures of both ankles but no elbow contractures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10323252" 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>.0009 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894806 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894806;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=rs104894806" 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=rs104894806" 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=RCV000011929" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011929" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011929</a>
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<p>In a family with 4 brothers and a maternal cousin with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#10" class="mim-tip-reference" title="Ellis, J. A., Yates, J. R. W., Kendrick-Jones, J., Brown, C. A. <strong>Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.</strong> Hum. Genet. 104: 262-268, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323252</a>] [<a href="https://doi.org/10.1007/s004390050946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10323252">Ellis et al. (1999)</a> identified a pro183-to-thr mutation in the EMD gene, which they referred to as the STA gene. <a href="#31" class="mim-tip-reference" title="Yates, J. R. W., Bagshaw, J., Aksmanovic, V. M. A., Coomber, E., McMahon, R., Whittaker, J. L., Morrison, P. J., Kendrick-Jones, J., Ellis, J. A. <strong>Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.</strong> Neuromusc. Disord. 9: 159-165, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10382909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10382909</a>]" pmid="10382909">Yates et al. (1999)</a> identified the P183T mutation in a family with an unusually mild EDMD phenotype and normal amounts of emerin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10382909+10323252" 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>.0010 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</strong>
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EMD, 5-BP DEL, NT631
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs782452523 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782452523;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=rs782452523" 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=rs782452523" 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=RCV000498396 OR RCV001216679 OR RCV003401269 OR RCV003492030" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000498396, RCV001216679, RCV003401269, RCV003492030" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000498396...</a>
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<p>In 2 brothers with Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>), <a href="#21" class="mim-tip-reference" title="Manilal, S., Recan, D., Sewry, C. A., Hoeltzenbein, M., Llense, S., Leturcq, F., Deburgrave, N., Barbot, J.-C., Nguyen thi Man, Muntoni, F., Wehnert, M., Kaplan, J.-C., Morris, G. E. <strong>Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.</strong> Hum. Molec. Genet. 7: 855-864, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536090</a>] [<a href="https://doi.org/10.1093/hmg/7.5.855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9536090">Manilal et al. (1998)</a> identified a 5-bp deletion (TCTAC) spanning nucleotides 631-635 of the EMD gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9536090" 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="#Boswinkel1985" class="mim-tip-reference" title="Boswinkel, E., Walker, A., Hodgson, S., Benham, F., Bobrow, M., Davies, K., Dubowitz, V., Grenata, C. <strong>Linkage analysis using eight DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreyfuss muscular dystrophy to distal Xq. (Abstract)</strong> Cytogenet. Cell Genet. 40: 586 only, 1985.">Boswinkel et al. (1985)</a>; <a href="#Boyle2001" class="mim-tip-reference" title="Boyle, S., Gilchrist, S., Bridger, J. M., Mahy, N. L., Ellis, J. A., Bickmore, W. A. <strong>The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells.</strong> Hum. Molec. Genet. 10: 211-219, 2001.">Boyle et al. (2001)</a>; <a href="#Consalez1991" class="mim-tip-reference" title="Consalez, G. G., Thomas, N. S. T., Stayton, C. L., Knight, S. J. L., Johnson, M., Hopkins, L. C., Harper, P. S., Elsas, L. J., Warren, S. T. <strong>Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.</strong> Am. J. Hum. Genet. 48: 468-480, 1991.">Consalez et al. (1991)</a>; <a href="#Hodgson1986" class="mim-tip-reference" title="Hodgson, S. V., Boswinkel, E., Walker, A., Bobrow, M., Davies, K., Dubowitz, V., Granata, G., Merlini, L. <strong>Linkage analysis using nine DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreifuss muscular dystrophy to distal Xq. (Abstract)</strong> J. Med. Genet. 23: 169-170, 1986.">Hodgson et al. (1986)</a>; <a href="#Nevo1999" class="mim-tip-reference" title="Nevo, Y., Al-Lozi, M., Parsadanian, A. S., Elliott, J. L., Connolly, A. M., Pestronk, A. <strong>Mutation analysis in Emery-Dreifuss muscular dystrophy.</strong> Pediat. Neurol. 21: 456-459, 1999.">Nevo et al. (1999)</a>; <a href="#Romeo1988" class="mim-tip-reference" title="Romeo, G., Roncuzzi, L., Sangiorgi, S., Giacanelli, M., Liguori, M., Tessarolo, D., Rocchi, M. <strong>Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.</strong> Hum. Genet. 80: 59-62, 1988.">Romeo et al. (1988)</a>; <a href="#Thomas1986" class="mim-tip-reference" title="Thomas, N. S. T., Williams, H., Elsas, L. J., Hopkins, L. C., Sarfarazi, M., Harper, P. S. <strong>Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.</strong> J. Med. Genet. 23: 596-598, 1986.">Thomas et al. (1986)</a>; <a href="#Wulff1997" class="mim-tip-reference" title="Wulff, K., Parrish, J. E., Herrmann, F. H., Wehnert, M. <strong>Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.</strong> Hum. Mutat. 9: 526-530, 1997.">Wulff et al. (1997)</a>; <a href="#Yates1986" class="mim-tip-reference" title="Yates, J. R. W., Affara, N. A., Jamieson, D. M., Ferguson-Smith, M. A., Hausmanowa-Petrusewicz, I., Zaremba, J., Borkowska, J., Johnston, A. W., Kelly, K. <strong>Emery-Dreifuss muscular dystrophy: localisation to Xq27.3-qter confirmed by linkage to the factor VIII gene.</strong> J. Med. Genet. 23: 587-590, 1986.">Yates et al. (1986)</a>; <a href="#Yates1993" class="mim-tip-reference" title="Yates, J. R. W., Warner, J. P., Smith, J. A., Deymeer, F., Azulay, J.-P., Hausmanowa-Petrusewicz, I., Zaremba, J., Borkowska, J., Affara, N. A., Ferguson-Smith, M. A. <strong>Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.</strong> J. Med. Genet. 30: 108-111, 1993.">Yates
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|
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<ol>
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<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Ben Yaou2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
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Ben Yaou, R., Toutain, A., Arimura, T., Demay, L., Massart, C., Peccate, C., Muchir, A., Llense, S., Deburgreave, N., Leturcq, F., Litim, K. E., Rahmoun-Chiali, N., Richard, P., Babuty, D., Recan-Budiartha, D., Bonne, G.
|
|
<strong>Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism?</strong>
|
|
Neurology 68: 1883-1894, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17536044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17536044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17536044" 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.0000263138.57257.6a" target="_blank">Full Text</a>]
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|
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Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D.
|
|
<strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong>
|
|
Nature Genet. 8: 323-327, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
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|
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[<a href="https://doi.org/10.1038/ng1294-323" target="_blank">Full Text</a>]
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|
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|
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<a id="3" class="mim-anchor"></a>
|
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<a id="Bione1995" class="mim-anchor"></a>
|
|
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|
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Bione, S., Small, K., Aksmanovic, V. M. A., D'Urso, M., Ciccodicola, A., Merlini, L., Morandi, L., Kress, W., Yates, J. R. W., Warren, S. T., Toniolo, D.
|
|
<strong>Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.</strong>
|
|
Hum. Molec. Genet. 4: 1859-1863, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1093/hmg/4.10.1859" target="_blank">Full Text</a>]
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|
|
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|
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|
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|
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|
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|
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|
|
Bione, S., Tamanini, F., Maestrini, E., Tribioli, C., Poustka, A., Torri, G., Rivella, S., Toniolo, D.
|
|
<strong>Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 10977-10981, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8248200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8248200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8248200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.90.23.10977" target="_blank">Full Text</a>]
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</p>
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</div>
|
|
</li>
|
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|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Boswinkel1985" class="mim-anchor"></a>
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Boswinkel, E., Walker, A., Hodgson, S., Benham, F., Bobrow, M., Davies, K., Dubowitz, V., Grenata, C.
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|
<strong>Linkage analysis using eight DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreyfuss muscular dystrophy to distal Xq. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 586 only, 1985.
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</p>
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</div>
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</li>
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Boyle, S., Gilchrist, S., Bridger, J. M., Mahy, N. L., Ellis, J. A., Bickmore, W. A.
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<strong>The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells.</strong>
|
|
Hum. Molec. Genet. 10: 211-219, 2001.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159939" 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/10.3.211" target="_blank">Full Text</a>]
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Brown, C. A., Scharner, J., Felice, K., Meriggioli, M. N., Tarnopolsky, M., Bower, M., Zammit, P. S., Mendell, J. R., Ellis, J. A.
|
|
<strong>Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hotspot.</strong>
|
|
J. Hum. Genet. 56: 589-594, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21697856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21697856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21697856" 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/jhg.2011.65" target="_blank">Full Text</a>]
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Cartegni, L., Raffaele di Barletta, M., Barresi, R., Squarzoni, S., Sabatelli, P., Maraldi, N., Mora, M., Di Blasi, C., Cornelio, F., Merlini, L., Villa, A., Cobianchi, F., Toniolo, D.
|
|
<strong>Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Molec. Genet. 6: 2257-2264, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9361031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.13.2257" target="_blank">Full Text</a>]
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Consalez, G. G., Thomas, N. S. T., Stayton, C. L., Knight, S. J. L., Johnson, M., Hopkins, L. C., Harper, P. S., Elsas, L. J., Warren, S. T.
|
|
<strong>Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.</strong>
|
|
Am. J. Hum. Genet. 48: 468-480, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1998333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ellis, J. A., Yates, J. R. W., Kendrick-Jones, J., Brown, C. A.
|
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<strong>Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Genet. 104: 262-268, 1999.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10323252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10323252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10323252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050946" target="_blank">Full Text</a>]
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Frock, R. L., Kudlow, B. A., Evans, A. M., Jameson, S. A., Hauschka, S. D., Kennedy, B. K.
|
|
<strong>Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.</strong>
|
|
Genes Dev. 20: 486-500, 2006.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16481476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16481476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16481476[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16481476" 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/10.1101/gad.1364906" target="_blank">Full Text</a>]
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Haraguchi, T., Koujin, T., Segura-Totten, M., Lee, K. K., Matsuoka, Y., Yoneda, Y., Wilson, K. L., Hiraoka, Y.
|
|
<strong>BAF is required for emerin assembly into the reforming nuclear envelope.</strong>
|
|
J. Cell Sci. 114: 4575-4585, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11792822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11792822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11792822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1242/jcs.114.24.4575" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Ho2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ho, C. Y., Jaalouk, D. E., Vartiainen, M. K., Lammerding, J.
|
|
<strong>Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics.</strong>
|
|
Nature 497: 507-511, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23644458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23644458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23644458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23644458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature12105" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Hodgson1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hodgson, S. V., Boswinkel, E., Walker, A., Bobrow, M., Davies, K., Dubowitz, V., Granata, G., Merlini, L.
|
|
<strong>Linkage analysis using nine DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreifuss muscular dystrophy to distal Xq. (Abstract)</strong>
|
|
J. Med. Genet. 23: 169-170, 1986.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Huber2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huber, M. D., Guan, T., Gerace, L.
|
|
<strong>Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation.</strong>
|
|
Molec. Cell. Biol. 29: 5718-5728, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19720741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19720741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19720741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19720741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1128/MCB.00270-09" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Jacque2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jacque, J.-M., Stevenson, M.
|
|
<strong>The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.</strong>
|
|
Nature 441: 641-645, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16680152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16680152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16680152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature04682" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Klauck1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Klauck, S., Wilgenbus, P., Yates, J. R. W., Muller, C. R., Poustka, A.
|
|
<strong>Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Molec. Genet. 4: 1853-1857, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/4.10.1853" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Lee2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, K. K., Haraguchi, T., Lee, R. S., Koujin, T., Hiraoka, Y., Wilson, K. L.
|
|
<strong>Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.</strong>
|
|
J. Cell Sci. 114: 4567-4573, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11792821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11792821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11792821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1242/jcs.114.24.4567" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Libotte2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Libotte, T., Zaim, H., Abraham, S., Padmakumar, V. C., Schneider, M., Lu, W., Munck, M., Hutchison, C., Wehnert, M., Fahrenkrog, B., Sauder, U., Aebi, U., Noegel, A. A., Karakesisoglou, I.
|
|
<strong>Lamin A/C-dependent localization of nesprin-2, a giant scaffolder at the nuclear envelope.</strong>
|
|
Molec. Biol. Cell 16: 3411-3424, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15843432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15843432</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15843432[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15843432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1091/mbc.e04-11-1009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Manilal1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Manilal, S., Nguyen thi Man, Sewry, C. A., Morris, G. E.
|
|
<strong>The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.</strong>
|
|
Hum. Molec. Genet. 5: 801-808, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8776595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8776595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8776595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/5.6.801" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Manilal1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Manilal, S., Recan, D., Sewry, C. A., Hoeltzenbein, M., Llense, S., Leturcq, F., Deburgrave, N., Barbot, J.-C., Nguyen thi Man, Muntoni, F., Wehnert, M., Kaplan, J.-C., Morris, G. E.
|
|
<strong>Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.</strong>
|
|
Hum. Molec. Genet. 7: 855-864, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9536090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/7.5.855" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Nevo1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nevo, Y., Al-Lozi, M., Parsadanian, A. S., Elliott, J. L., Connolly, A. M., Pestronk, A.
|
|
<strong>Mutation analysis in Emery-Dreifuss muscular dystrophy.</strong>
|
|
Pediat. Neurol. 21: 456-459, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10428430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10428430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10428430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0887-8994(99)00023-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Romeo1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Romeo, G., Roncuzzi, L., Sangiorgi, S., Giacanelli, M., Liguori, M., Tessarolo, D., Rocchi, M.
|
|
<strong>Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.</strong>
|
|
Hum. Genet. 80: 59-62, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3417305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3417305</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3417305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00451457" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Ruiz1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ruiz, P., Brinkmann, V., Ledermann, B., Behrend, M., Grund, C., Thalhammer, C., Vogel, F., Birchmeier, C., Gunthert, U., Franke, W. W., Birchmeier, W.
|
|
<strong>Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart.</strong>
|
|
J. Cell Biol. 135: 215-225, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1083/jcb.135.1.215" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Shin2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shin, J.-Y., Mendez-Lopez, I., Wang, Y., Hays, A. P., Tanji, K., Lefkowitch, J. H., Schulze, P. C., Worman, H. J., Dauer, W. T.
|
|
<strong>Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.</strong>
|
|
Dev. Cell 26: 591-603, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24055652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24055652</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24055652[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24055652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.devcel.2013.08.012" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Small1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Small, K., Wagener, M., Warren, S. T.
|
|
<strong>Isolation and characterization of the complete mouse emerin gene.</strong>
|
|
Mammalian Genome 8: 337-341, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9107678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9107678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9107678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s003359900435" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Thomas1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thomas, N. S. T., Williams, H., Elsas, L. J., Hopkins, L. C., Sarfarazi, M., Harper, P. S.
|
|
<strong>Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.</strong>
|
|
J. Med. Genet. 23: 596-598, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3100805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3100805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3100805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.23.6.596" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Wulff1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wulff, K., Parrish, J. E., Herrmann, F. H., Wehnert, M.
|
|
<strong>Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Mutat. 9: 526-530, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<526::AID-HUMU5>3.0.CO;2-#" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
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<a id="Yamada1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamada, T., Kobayashi, T.
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<strong>A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.</strong>
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Hum. Genet. 97: 693-694, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8655156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8655156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8655156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF02281886" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Yates1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yates, J. R. W., Affara, N. A., Jamieson, D. M., Ferguson-Smith, M. A., Hausmanowa-Petrusewicz, I., Zaremba, J., Borkowska, J., Johnston, A. W., Kelly, K.
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<strong>Emery-Dreifuss muscular dystrophy: localisation to Xq27.3-qter confirmed by linkage to the factor VIII gene.</strong>
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J. Med. Genet. 23: 587-590, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2879931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2879931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2879931" 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.23.6.587" target="_blank">Full Text</a>]
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</p>
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<a id="31" class="mim-anchor"></a>
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<a id="Yates1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yates, J. R. W., Bagshaw, J., Aksmanovic, V. M. A., Coomber, E., McMahon, R., Whittaker, J. L., Morrison, P. J., Kendrick-Jones, J., Ellis, J. A.
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<strong>Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.</strong>
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Neuromusc. Disord. 9: 159-165, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10382909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10382909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10382909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Yates1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yates, J. R. W., Warner, J. P., Smith, J. A., Deymeer, F., Azulay, J.-P., Hausmanowa-Petrusewicz, I., Zaremba, J., Borkowska, J., Affara, N. A., Ferguson-Smith, M. A.
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<strong>Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.</strong>
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J. Med. Genet. 30: 108-111, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8445613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8445613</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8445613" 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.30.2.108" target="_blank">Full Text</a>]
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Yorifuji1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yorifuji, H., Tadano, Y., Tsuchiya, Y., Ogawa, M., Goto, K., Umetani, A., Asaka, Y., Arahata, K.
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<strong>Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane.</strong>
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Neurogenetics 1: 135-140, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10732816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s100480050020" target="_blank">Full Text</a>]
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 08/23/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 4/13/2015<br>Patricia A. Hartz - updated : 10/14/2014<br>Ada Hamosh - updated : 7/11/2013<br>Cassandra L. Kniffin - updated : 9/19/2011<br>Cassandra L. Kniffin - updated : 1/30/2008<br>Paul J. Converse - updated : 6/19/2006<br>Patricia A. Hartz - updated : 3/28/2006<br>Patricia A. Hartz - updated : 5/19/2003
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</span>
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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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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 3/26/2002
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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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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mgross : 08/24/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 08/23/2016<br>mgross : 04/14/2015<br>mcolton : 4/13/2015<br>mgross : 10/14/2014<br>alopez : 7/11/2013<br>carol : 10/4/2011<br>ckniffin : 9/19/2011<br>alopez : 4/12/2011<br>wwang : 3/22/2010<br>carol : 1/5/2010<br>wwang : 2/1/2008<br>ckniffin : 1/30/2008<br>mgross : 6/19/2006<br>wwang : 3/29/2006<br>terry : 3/28/2006<br>mgross : 5/19/2003<br>carol : 4/5/2002<br>ckniffin : 4/2/2002<br>carol : 4/2/2002<br>ckniffin : 3/29/2002
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300384
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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EMERIN; EMD
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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STA
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EMD</em></strong>
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</span>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1156836006;
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</span>
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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: Xq28
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Genomic coordinates <span class="small">(GRCh38)</span> : X:154,379,295-154,381,523 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<td rowspan="1">
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<span class="mim-font">
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Xq28
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</td>
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<td>
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<span class="mim-font">
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Emery-Dreifuss muscular dystrophy 1, X-linked
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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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310300
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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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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Description</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 EMD gene encodes a ubiquitous protein, emerin, that is found along the nuclear rim of many cell types and is a member of the nuclear lamina-associated protein family. Mutation in the EMD gene has been found to cause the Emery-Dreifuss type of muscular dystrophy (EDMD; 310300).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Bione et al. (1993) constructed a transcriptional map of the 2-Mb region of Xq28 to which the Emery-Dreifuss muscular dystrophy locus had been mapped by linkage studies. Within this region, they identified the STA gene. Bione et al. (1994) determined that STA (EMD) encodes a 254-amino acid protein, termed emerin, which lacks a signal peptide, contains a long N-terminal domain, and is hydrophilic except for a highly hydrophobic 20-amino acid sequence at the C-terminal region. It has several putative phosphorylation sites and 1 potential glycosylation site. Northern blot analysis demonstrated ubiquitous expression of a major, approximately 1-kb transcript, with highest expression in skeletal muscle and heart and abundant expression in other tissues, including colon, testis, ovary, and placenta. Bione et al. (1994) suggested that emerin belongs to a class of tail-anchored membrane proteins of the secretory pathway involved in vesicular transport. </p><p>Manilal et al. (1996) developed a panel of 12 monoclonal antibodies to a large fragment of emerin cDNA prepared by PCR and expressed as a recombinant protein in E. coli. These antibodies detected 4 different epitopes on emerin. All monoclonal antibodies recognized a 34-kD protein in all tissues tested. Immunofluorescence and cell fractionation studies confirmed that emerin is located in the nuclear membrane. Amino acid sequence similarities and cellular localization suggested that emerin is a member of the nuclear lamina-associated protein family. </p><p>Small et al. (1997) isolated and characterized the complete mouse emerin gene. The 2.9-kb mouse emerin gene comprises 6 exons and encodes a protein 73% identical to that of the human protein. As in the human, the gene encodes a serine-rich protein similar to lamina-associated protein-2 (LAP2; 188380) and shows critical LAP2 phosphorylation sites. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bione et al. (1995) reported the sequence of the EMD gene, which is 2,100 bp long. The gene contains 6 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bione et al. (1994) identified the EMD gene on a transcriptional map of Xq28. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cartegni et al. (1997) reported that emerin localizes to the inner nuclear membrane via its hydrophobic C-terminal domain, but that in heart and cultured cardiomyocytes, it is also associated with the intercalated discs. They proposed a general role for emerin in membrane anchorage to the cytoskeleton. In the nuclear envelope, emerin plays a ubiquitous and indispensable role in association of the nuclear membrane with the lamina. In heart, it is specifically located to desmosomes and fasciae adherentes. Desmosomes and fasciae adherentes anchor desmin-containing intermediate filaments and the bundles of sarcomeric myofilaments, respectively. They consist of transmembrane adhesive glycoproteins, members of the cadherin superfamily, and of cytoplasmic proteins such as vinculin (193065), catenins, and actin-binding proteins. Different assortments of the same or similar proteins in desmosomes, fasciae adherentes, focal adhesions, and other adhesive junctions seem to confer specific functions to ensure cell-cell communication and tight adhesion between cells and to the extracellular matrix. The role of this complex assortment of proteins is best demonstrated by the existence of many genetic diseases that perturb adhesion and in the heart by the dramatic consequences of plakoglobin (gamma-catenin) knockout (Ruiz et al., 1996): plakoglobin -/- mice die at midgestation due to rupture of the ventricles. In heart, the specific localization of emerin to desmosomes and fasciae adherentes could account for the characteristic conduction defects described in patients with Emery-Dreifuss muscular dystrophy. </p><p>Yorifuji et al. (1997) likewise demonstrated that emerin is localized at the inner nuclear membrane. Studies for ultrastructural localization of the protein in human skeletal muscle and HeLa cells, using ultrathin cryosections, showed that immune-labeled colloidal gold particles were localized on the nucleoplasmic surface of the inner nuclear membrane, but not on the nuclear pore. They interpreted their results as indicating that emerin anchors at the inner nuclear membrane through the hydrophobic stretch and protrudes from the hydrophilic region to the nucleoplasm where it interacts with the nuclear lamina. They speculated that emerin contributes to maintenance of the nuclear structure and stability, as well as nuclear functions, particularly in muscle tissues that have severe stress with rigorous contraction-relaxation movements and calcium flux. </p><p>By mutation analysis, Lee et al. (2001) determined that several, but not all, disease mutations in emerin map to a central lamin A (LMNA; 150330)-binding domain, and that mutations in this region disrupt emerin-lamin A interaction. They also found that emerin binds directly to BAF (BANF1; 603811), a DNA-bridging protein, and this binding required conserved residues in the N-terminal LEM domain of emerin. The disease-linked emerin proteins all remained active for BAF binding both in vitro and in vivo. </p><p>Haraguchi et al. (2001) visualized colocalization between emerin and BAF at the 'core' region of chromosomes during telophase in HeLa cells. An emerin mutant defective in BAF binding in vitro failed to localize at the core in vivo and subsequently failed to localize at the reformed nuclear envelope. In HeLa cells expressing a BAF mutant that did not show core localization, endogenous emerin failed to localize at the core region during telophase and did not assemble into the nuclear envelope during the subsequent interphase. This BAF mutant also dominantly dislocalized LAP2-beta (188380) and lamin A from the nuclear envelope. Haraguchi et al. (2001) concluded that BAF is required for the assembly of emerin and A-type lamins at the reforming nuclear envelope during telophase and may mediate their stability in the subsequent interphase. </p><p>Using protein pull-down and coimmunoprecipitation assays, Libotte et al. (2005) found that a C-terminal region of the nuclear membrane scaffold protein nesprin-2 (SYNE2; 608442) bound directly to emerin in vitro and in vivo. Knockdown of nesprin-2 in COS-7 cells caused redistribution of emerin away from the nuclear envelope. </p><p>Jacque and Stevenson (2006) examined susceptibility of primary macrophages to human immunodeficiency virus (HIV)-1 infection following short interfering RNA (siRNA)-mediated silencing of nuclear lamins and several lamin-associated proteins. They found that silencing of emerin and BAF prevented infection with HIV-1, but not murine leukemia virus, by preventing integration of the virus into host DNA. Chromatin immunoprecipitation analysis identified emerin and BAF as cooperative cofactors of HIV-1, and mutation analysis showed that viral cDNA did not associate with BAF defective in emerin binding or with emerin lacking the LEM domain. Jacque and Stevenson (2006) concluded that HIV-1 cDNA, upon entering the nucleus, must interact with emerin to contact chromatin, and they suggested that molecules that prevent this interaction might promote abortive HIV-1 infection of a cell. </p><p>Using RNA interference, Huber et al. (2009) found that knockdown of Net25 (LEMD2; 616312) or emerin in C2C12 mouse myoblast cells inhibited myogenic differentiation upon shift to differentiation medium. Knockdown of either Net25 or emerin also resulted in elevated Erk1 (MAPK3; 601795) activation. Pharmacologic inhibition of Erk activation rescued myogenic differentiation in Net25- or emerin-knockdown cultures. Expression of human NET25 in mouse Net25 and emerin double-knockdown cultures also rescued differentiation, suggesting redundant roles for Net25 and emerin in C2C12 cell differentiation. </p><p>Ho et al. (2013) demonstrated that ectopic expression of emerin, which is mislocalized in Lmna-null and Lmna(N195K/N195K) (see 150330.0007) mutant cells, restored nuclear translocation of the mechanosensitive transcription factor megakaryoblastic leukemia-1 (MKL1; 606078) and rescued actin dynamics. These data indicated that emerin is a crucial modulator of actin polymerization and that loss of emerin from the nuclear envelope causes disturbed actin dynamics and impaired MKL1 signaling. Ho et al. (2013) concluded that these and other findings suggested a novel mechanism that could provide insight into the disease etiology for the cardiac phenotype in many laminopathies, whereby lamin A/C and emerin regulate gene expression through modulation of nuclear and cytoskeletal actin polymerization. </p><p>By mass spectrometric analysis, Shin et al. (2013) found that epitope-tagged human LAP1 (TOR1AIP1; 614512) interacted with emerin and lamin A in transfected HEK293 cells. Coimmunoprecipitation analysis confirmed interaction of endogenous LAP1 and emerin. Domain mapping revealed that emerin and LAP1 interacted via their nucleoplasmic domains. Use of knockout mouse fibroblasts showed that loss of Lap1 mislocalized emerin to distinct foci along the nuclear envelope, whereas loss of emerin had little effect on Lap1 localization in the nuclear envelope. Shin et al. (2013) concluded that LAP1 contributes to immobilization of emerin in the inner nuclear membrane. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 5 patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD1; 310300), Bione et al. (1994) identified mutations in the EMD gene (300384.0001-300384.0005). These mutations resulted in the loss of all or part of the protein. </p><p>Ellis et al. (1999) stated that more than 70 different mutations had been identified in the emerin gene. They described 2 missense mutations involving proline-183: P183H (300384.0008) and P183T (300384.0009). Biochemical analyses had demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from those of wildtype emerin, but that they have weakened interactions with nuclear lamina components. </p><p>In a large consanguineous Algerian family segregating isolated atrial cardiac conduction defects and Emery-Dreifuss muscular dystrophy, Ben Yaou et al. (2007) identified a deletion of lys37 (delK37) in the EMD gene. Two men with EDMD were hemizygous for the mutation and homozygous for an LMNA mutation (150330.0020). Three males who were hemizygous for delK37 developed isolated atrial cardiac conduction defects in their forties; 1 asymptomatic male carrier was 32 years old. Three of 5 women heterozygous for delK37 also had cardiac disease. Ben Yaou et al. (2007) stated that this was the first report of an EMD mutation giving rise to isolated cardiac disease. </p><p>Brown et al. (2011) identified pathogenic mutations in the EMD gene in 23 (9.0%) of 255 North American patients referred for testing for EDMD. There were 8 novel and 10 recurrent mutations. Most (90.5%) of the mutations were predicted to result in a severely truncated or lack of protein. Analysis of 130 EMD mutations indicated that exon 2 may be a hotspot, perhaps owing to the high GC content. </p>
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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>Frock et al. (2006) found that most cultured muscle cells from Lmna knockout mice exhibited impaired differentiation kinetics and reduced differentiation potential. Similarly, knockdown of Lmna or emerin expression by RNA interference in normal muscle cells impaired differentiation potential and reduced expression of muscle-specific genes, Myod (159970) and desmin (125660). To determine whether impaired myogenesis was linked to reduced Myod or desmin levels, Frock et al. (2006) individually expressed these proteins in Lmna-null myoblasts and found that both increased the differentiation potential of mutant myoblasts. Frock et al. (2006) concluded that LMNA and emerin are required for myogenic differentiation, at least in part, through an effect on expression of critical myoblast proteins. </p><p>Using Western blot analysis, Shin et al. (2013) confirmed that mouse skeletal muscle had diminished expression of emerin compared with human. Conversely, LAP1 expression was significantly higher in mouse than human striated muscle. Shin et al. (2013) stated that deletion of Lap1 in mice is perinatal lethal. They found that mice with conditional deletion of Lap1 in striated muscle were indistinguishable from controls at birth, but they developed progressive myopathy in several muscle groups that resulted in early death. Lap1 mutant mice also showed abnormal emerin localization in myofibers. Conditional deletion of Lap1 from liver caused no overt phenotype. Loss of emerin alone (Emd -/y mice) did not affect life span or cause any overt phenotype, but it exacerbated myopathy when combined with muscle-specific Lap1 knockout. Mice lacking striated muscle Lap1 or Lap1 and emerin also had significantly decreased left ventricular fractional shortening compared with controls. Shin et al. (2013) concluded that LAP1 and emerin interact physically and functionally in skeletal muscle maintenance, but that there are significant differences in the contributions of these proteins to myopathy in humans and mice. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 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 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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EMD, 2-BP DEL, NT564
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<br />
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SNP: rs1422834817,
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ClinVar: RCV000011921
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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>Bione et al. (1994) described deletion of nucleotides 564 and 565 in the EMD gene in affected members of a family with Emery-Dreifuss muscular dystrophy (310300). This resulted in a frameshift and a stop codon after amino acid 207. </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 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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EMD, MET1VAL
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<br />
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SNP: rs267606782,
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ClinVar: RCV000254894, RCV000802953
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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 Emery-Dreifuss muscular dystrophy (310300), Bione et al. (1994) described an A-to-G transition at nucleotide 59 of the EMD gene, abolishing the ATG methionine initiator codon. </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 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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EMD, 29-BP DEL, NT113
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<br />
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ClinVar: RCV000011923
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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 the affected members of a family with Emery-Dreifuss muscular dystrophy (310300), Bione et al. (1994) found deletion of nucleotides 113 to 141 of the EMD gene, resulting in a frameshift and a stop codon after amino acid 21. </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 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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EMD, 2-BP INS, NT198
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<br />
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SNP: rs2148128153,
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ClinVar: RCV000011924
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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 Emery-Dreifuss muscular dystrophy (310300), Bione et al. (1994) found insertion of 2 basepairs after nucleotide 198 of the EMD gene, resulting in a frameshift and a stop codon after amino acid 64. </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 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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EMD, IVSAS, A-G, -3, 214-BP INS
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<br />
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SNP: rs2148128459,
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ClinVar: RCV001877850
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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 affected members of a family with Emery-Dreifuss muscular dystrophy (310300), Bione et al. (1994) found an A-to-G transition at the -3 position in a 3-prime splice junction of the EMD gene. The mutation was first detected as an abnormality in the sequence of an RT-PCR product which showed insertion of 214 bp at nucleotide 324. The nucleotide sequence of the genomic fragments confirmed that the 214-bp insertion was an unspliced intron. In the presence of the mutation, alternative 3-prime splice junctions were used at position -87 of the same intron and position 365 in the next exon, giving 2 additional bands of size intermediate between the normal and the band reflecting the 214-bp insertion. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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|
|
EMD, GLN43TER
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|
<br />
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|
|
SNP: rs132630262,
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|
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ClinVar: RCV000011926, RCV000078128, RCV002381248
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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>Klauck et al. (1995) identified novel mutations in 3 families with Emery-Dreifuss muscular dystrophy (310300). One of these was a C-to-T transition at nucleotide 188, resulting in a change of codon 43 from CAG (gln) to a stop codon. </p>
|
|
</span>
|
|
</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 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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EMD, 1-BP DEL, FS236TER
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<br />
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|
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SNP: rs2148128932,
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ClinVar: RCV000011927
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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 patient with Emery-Dreifuss muscular dystrophy (310300), Yamada and Kobayashi (1996) found that the emerin gene carried a 1-bp deletion of C at nucleotide 672 or 673. This deletion caused a frameshift leading to change in the amino acid sequence (amino acids 206-235) and generating an early stop codon. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
|
EMD, PRO183HIS
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<br />
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|
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SNP: rs104894805,
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ClinVar: RCV001224353
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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 man with Emery-Dreifuss muscular dystrophy (310300), Ellis et al. (1999) identified a pro183-to-his mutation in the EMD gene, which they called the STA gene. The patient was first referred to a neurologist at age 31 because of back pain, weakness in the legs greater than the arms, and leg numbness. As a child, he had been limited in his participation in athletics in school. Upper limb weakness was noticed in childhood, but no lower limb weakness was noted until age 25. He developed a burning-quality low back pain at age 27 which radiated into the posterior aspect of both legs. He had developed third-degree heart block requiring a pacemaker. There were mild contractures of both ankles but no elbow contractures. </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>.0009 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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|
EMD, PRO183THR
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<br />
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|
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SNP: rs104894806,
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ClinVar: RCV000011929
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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 family with 4 brothers and a maternal cousin with Emery-Dreifuss muscular dystrophy (310300), Ellis et al. (1999) identified a pro183-to-thr mutation in the EMD gene, which they referred to as the STA gene. Yates et al. (1999) identified the P183T mutation in a family with an unusually mild EDMD phenotype and normal amounts of emerin. </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 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED</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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EMD, 5-BP DEL, NT631
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<br />
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SNP: rs782452523,
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ClinVar: RCV000498396, RCV001216679, RCV003401269, RCV003492030
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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 brothers with Emery-Dreifuss muscular dystrophy (310300), Manilal et al. (1998) identified a 5-bp deletion (TCTAC) spanning nucleotides 631-635 of the EMD gene. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Boswinkel et al. (1985); Boyle et al. (2001); Consalez et al. (1991);
|
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Hodgson et al. (1986); Nevo et al. (1999); Romeo et al. (1988);
|
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Thomas et al. (1986); Wulff et al. (1997); Yates et al. (1986); Yates
|
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et al. (1993)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
|
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</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ben Yaou, R., Toutain, A., Arimura, T., Demay, L., Massart, C., Peccate, C., Muchir, A., Llense, S., Deburgreave, N., Leturcq, F., Litim, K. E., Rahmoun-Chiali, N., Richard, P., Babuty, D., Recan-Budiartha, D., Bonne, G.
|
|
<strong>Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism?</strong>
|
|
Neurology 68: 1883-1894, 2007.
|
|
|
|
|
|
[PubMed: 17536044]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000263138.57257.6a]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., Toniolo, D.
|
|
<strong>Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.</strong>
|
|
Nature Genet. 8: 323-327, 1994.
|
|
|
|
|
|
[PubMed: 7894480]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1294-323]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bione, S., Small, K., Aksmanovic, V. M. A., D'Urso, M., Ciccodicola, A., Merlini, L., Morandi, L., Kress, W., Yates, J. R. W., Warren, S. T., Toniolo, D.
|
|
<strong>Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.</strong>
|
|
Hum. Molec. Genet. 4: 1859-1863, 1995.
|
|
|
|
|
|
[PubMed: 8595407]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.10.1859]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bione, S., Tamanini, F., Maestrini, E., Tribioli, C., Poustka, A., Torri, G., Rivella, S., Toniolo, D.
|
|
<strong>Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 10977-10981, 1993.
|
|
|
|
|
|
[PubMed: 8248200]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.90.23.10977]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boswinkel, E., Walker, A., Hodgson, S., Benham, F., Bobrow, M., Davies, K., Dubowitz, V., Grenata, C.
|
|
<strong>Linkage analysis using eight DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreyfuss muscular dystrophy to distal Xq. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 586 only, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boyle, S., Gilchrist, S., Bridger, J. M., Mahy, N. L., Ellis, J. A., Bickmore, W. A.
|
|
<strong>The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells.</strong>
|
|
Hum. Molec. Genet. 10: 211-219, 2001.
|
|
|
|
|
|
[PubMed: 11159939]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/10.3.211]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brown, C. A., Scharner, J., Felice, K., Meriggioli, M. N., Tarnopolsky, M., Bower, M., Zammit, P. S., Mendell, J. R., Ellis, J. A.
|
|
<strong>Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hotspot.</strong>
|
|
J. Hum. Genet. 56: 589-594, 2011.
|
|
|
|
|
|
[PubMed: 21697856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/jhg.2011.65]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cartegni, L., Raffaele di Barletta, M., Barresi, R., Squarzoni, S., Sabatelli, P., Maraldi, N., Mora, M., Di Blasi, C., Cornelio, F., Merlini, L., Villa, A., Cobianchi, F., Toniolo, D.
|
|
<strong>Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Molec. Genet. 6: 2257-2264, 1997.
|
|
|
|
|
|
[PubMed: 9361031]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.13.2257]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Consalez, G. G., Thomas, N. S. T., Stayton, C. L., Knight, S. J. L., Johnson, M., Hopkins, L. C., Harper, P. S., Elsas, L. J., Warren, S. T.
|
|
<strong>Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.</strong>
|
|
Am. J. Hum. Genet. 48: 468-480, 1991.
|
|
|
|
|
|
[PubMed: 1998333]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ellis, J. A., Yates, J. R. W., Kendrick-Jones, J., Brown, C. A.
|
|
<strong>Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Genet. 104: 262-268, 1999.
|
|
|
|
|
|
[PubMed: 10323252]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050946]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frock, R. L., Kudlow, B. A., Evans, A. M., Jameson, S. A., Hauschka, S. D., Kennedy, B. K.
|
|
<strong>Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.</strong>
|
|
Genes Dev. 20: 486-500, 2006.
|
|
|
|
|
|
[PubMed: 16481476]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gad.1364906]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haraguchi, T., Koujin, T., Segura-Totten, M., Lee, K. K., Matsuoka, Y., Yoneda, Y., Wilson, K. L., Hiraoka, Y.
|
|
<strong>BAF is required for emerin assembly into the reforming nuclear envelope.</strong>
|
|
J. Cell Sci. 114: 4575-4585, 2001.
|
|
|
|
|
|
[PubMed: 11792822]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1242/jcs.114.24.4575]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ho, C. Y., Jaalouk, D. E., Vartiainen, M. K., Lammerding, J.
|
|
<strong>Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics.</strong>
|
|
Nature 497: 507-511, 2013.
|
|
|
|
|
|
[PubMed: 23644458]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature12105]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hodgson, S. V., Boswinkel, E., Walker, A., Bobrow, M., Davies, K., Dubowitz, V., Granata, G., Merlini, L.
|
|
<strong>Linkage analysis using nine DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreifuss muscular dystrophy to distal Xq. (Abstract)</strong>
|
|
J. Med. Genet. 23: 169-170, 1986.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huber, M. D., Guan, T., Gerace, L.
|
|
<strong>Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation.</strong>
|
|
Molec. Cell. Biol. 29: 5718-5728, 2009.
|
|
|
|
|
|
[PubMed: 19720741]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/MCB.00270-09]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jacque, J.-M., Stevenson, M.
|
|
<strong>The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.</strong>
|
|
Nature 441: 641-645, 2006.
|
|
|
|
|
|
[PubMed: 16680152]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature04682]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Klauck, S., Wilgenbus, P., Yates, J. R. W., Muller, C. R., Poustka, A.
|
|
<strong>Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Molec. Genet. 4: 1853-1857, 1995.
|
|
|
|
|
|
[PubMed: 8595406]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.10.1853]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, K. K., Haraguchi, T., Lee, R. S., Koujin, T., Hiraoka, Y., Wilson, K. L.
|
|
<strong>Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.</strong>
|
|
J. Cell Sci. 114: 4567-4573, 2001.
|
|
|
|
|
|
[PubMed: 11792821]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1242/jcs.114.24.4567]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Libotte, T., Zaim, H., Abraham, S., Padmakumar, V. C., Schneider, M., Lu, W., Munck, M., Hutchison, C., Wehnert, M., Fahrenkrog, B., Sauder, U., Aebi, U., Noegel, A. A., Karakesisoglou, I.
|
|
<strong>Lamin A/C-dependent localization of nesprin-2, a giant scaffolder at the nuclear envelope.</strong>
|
|
Molec. Biol. Cell 16: 3411-3424, 2005.
|
|
|
|
|
|
[PubMed: 15843432]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1091/mbc.e04-11-1009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Manilal, S., Nguyen thi Man, Sewry, C. A., Morris, G. E.
|
|
<strong>The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.</strong>
|
|
Hum. Molec. Genet. 5: 801-808, 1996.
|
|
|
|
|
|
[PubMed: 8776595]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.6.801]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Manilal, S., Recan, D., Sewry, C. A., Hoeltzenbein, M., Llense, S., Leturcq, F., Deburgrave, N., Barbot, J.-C., Nguyen thi Man, Muntoni, F., Wehnert, M., Kaplan, J.-C., Morris, G. E.
|
|
<strong>Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.</strong>
|
|
Hum. Molec. Genet. 7: 855-864, 1998.
|
|
|
|
|
|
[PubMed: 9536090]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/7.5.855]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nevo, Y., Al-Lozi, M., Parsadanian, A. S., Elliott, J. L., Connolly, A. M., Pestronk, A.
|
|
<strong>Mutation analysis in Emery-Dreifuss muscular dystrophy.</strong>
|
|
Pediat. Neurol. 21: 456-459, 1999.
|
|
|
|
|
|
[PubMed: 10428430]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0887-8994(99)00023-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Romeo, G., Roncuzzi, L., Sangiorgi, S., Giacanelli, M., Liguori, M., Tessarolo, D., Rocchi, M.
|
|
<strong>Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.</strong>
|
|
Hum. Genet. 80: 59-62, 1988.
|
|
|
|
|
|
[PubMed: 3417305]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00451457]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ruiz, P., Brinkmann, V., Ledermann, B., Behrend, M., Grund, C., Thalhammer, C., Vogel, F., Birchmeier, C., Gunthert, U., Franke, W. W., Birchmeier, W.
|
|
<strong>Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart.</strong>
|
|
J. Cell Biol. 135: 215-225, 1996.
|
|
|
|
|
|
[PubMed: 8858175]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1083/jcb.135.1.215]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shin, J.-Y., Mendez-Lopez, I., Wang, Y., Hays, A. P., Tanji, K., Lefkowitch, J. H., Schulze, P. C., Worman, H. J., Dauer, W. T.
|
|
<strong>Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.</strong>
|
|
Dev. Cell 26: 591-603, 2013.
|
|
|
|
|
|
[PubMed: 24055652]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.devcel.2013.08.012]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Small, K., Wagener, M., Warren, S. T.
|
|
<strong>Isolation and characterization of the complete mouse emerin gene.</strong>
|
|
Mammalian Genome 8: 337-341, 1997.
|
|
|
|
|
|
[PubMed: 9107678]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s003359900435]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thomas, N. S. T., Williams, H., Elsas, L. J., Hopkins, L. C., Sarfarazi, M., Harper, P. S.
|
|
<strong>Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.</strong>
|
|
J. Med. Genet. 23: 596-598, 1986.
|
|
|
|
|
|
[PubMed: 3100805]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.23.6.596]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wulff, K., Parrish, J. E., Herrmann, F. H., Wehnert, M.
|
|
<strong>Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Mutat. 9: 526-530, 1997.
|
|
|
|
|
|
[PubMed: 9195226]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<526::AID-HUMU5>3.0.CO;2-#]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yamada, T., Kobayashi, T.
|
|
<strong>A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.</strong>
|
|
Hum. Genet. 97: 693-694, 1996.
|
|
|
|
|
|
[PubMed: 8655156]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02281886]
|
|
|
|
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Yates, J. R. W., Affara, N. A., Jamieson, D. M., Ferguson-Smith, M. A., Hausmanowa-Petrusewicz, I., Zaremba, J., Borkowska, J., Johnston, A. W., Kelly, K.
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<strong>Emery-Dreifuss muscular dystrophy: localisation to Xq27.3-qter confirmed by linkage to the factor VIII gene.</strong>
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J. Med. Genet. 23: 587-590, 1986.
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[PubMed: 2879931]
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[Full Text: https://doi.org/10.1136/jmg.23.6.587]
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Yates, J. R. W., Bagshaw, J., Aksmanovic, V. M. A., Coomber, E., McMahon, R., Whittaker, J. L., Morrison, P. J., Kendrick-Jones, J., Ellis, J. A.
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<strong>Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.</strong>
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Neuromusc. Disord. 9: 159-165, 1999.
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[PubMed: 10382909]
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Yates, J. R. W., Warner, J. P., Smith, J. A., Deymeer, F., Azulay, J.-P., Hausmanowa-Petrusewicz, I., Zaremba, J., Borkowska, J., Affara, N. A., Ferguson-Smith, M. A.
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<strong>Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.</strong>
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J. Med. Genet. 30: 108-111, 1993.
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[PubMed: 8445613]
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[Full Text: https://doi.org/10.1136/jmg.30.2.108]
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Yorifuji, H., Tadano, Y., Tsuchiya, Y., Ogawa, M., Goto, K., Umetani, A., Asaka, Y., Arahata, K.
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<strong>Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane.</strong>
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Neurogenetics 1: 135-140, 1997.
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[PubMed: 10732816]
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[Full Text: https://doi.org/10.1007/s100480050020]
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