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Entry
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- #181350 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
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- OMIM
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<p>
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<span class="h4">#181350</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/181350"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS310300"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=59&Typ=Pat" title="Emery-Dreifuss muscular dystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Emery-Dreifuss muscular dy… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13870&Typ=Pat" title="Autosomal dominant Emery-Dreifuss muscular dystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant Emery-D… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1436/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7808" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=181350[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><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261" title="Emery-Dreifuss muscular dystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Emery-Dreifuss muscular dy…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98853" title="Autosomal dominant Emery-Dreifuss muscular dystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant Emery-D…</a></div>
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</div>
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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 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 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/disease/DOID:0070247" 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="http://www.informatics.jax.org/disease/181350" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070247" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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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">
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<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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</a>
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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:181350" 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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<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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<a id="title" class="mim-anchor"></a>
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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> 1010712009<br />
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<strong>ORPHA:</strong> 261, 98853<br />
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<strong>DO:</strong> 0070247<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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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181350
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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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EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
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</span>
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</h3>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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|
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EMD2<br />
|
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT<br />
|
|
SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY<br />
|
|
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT<br />
|
|
HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY<br />
|
|
CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY<br />
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FORMERLY; LGMD1B, FORMERLY<br />
|
|
MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B, FORMERLY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240">
|
|
1q22
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/181350"> 181350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
LMNA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> 150330 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/181350" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS310300" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/181350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/181350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Restricted neck movement due to contractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867006&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867006</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005997</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dilated cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
|
|
Cardiac conduction defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44808001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44808001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/426.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4318382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4318382</a>, <a href="https://bioportal.bioontology.org/search?q=C1842820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842820</a>, <a href="https://bioportal.bioontology.org/search?q=C0264886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031546</a>]</span><br /> -
|
|
Cardiac arrhythmias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br /> -
|
|
Increased risk of sudden cardiac death <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867013</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scapular winging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Spinal rigidity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858025&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858025</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003306</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003306</a>]</span><br /> -
|
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839653</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004631</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Elbow contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239734000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239734000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034391</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Achilles tendon contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203076007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203076007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410264</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Humeroperoneal weakness and atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867007</a>]</span><br /> -
|
|
Distal lower limb muscle weakness and atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867008</a>]</span><br /> -
|
|
Limb-girdle muscle weakness, proximal, upper greater than lower <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867009&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867009</a>]</span><br /> -
|
|
Pelvic muscle involvement occurs later <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867010</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Moderately increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008180</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset of muscle weakness in early childhood, usually before age 10 years<br /> -
|
|
Onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement<br /> -
|
|
Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
|
|
High frequency of de novo mutations<br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Some patients may have isolated cardiac involvement<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the lamin A/C gene (LMNA, <a href="/entry/150330#0001">150330.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Emery-Dreifuss muscular dystrophy
|
|
- <a href="/phenotypicSeries/PS310300">PS310300</a>
|
|
- 8 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/181350"> Emery-Dreifuss muscular dystrophy 2, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/181350"> 181350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> LMNA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> 150330 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616516"> Emery-Dreifuss muscular dystrophy 3, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616516"> 616516 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> LMNA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> 150330 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/80?start=-3&limit=10&highlight=80"> 3p25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614302"> Emery-Dreifuss muscular dystrophy 7, AD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614302"> 614302 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612048"> TMEM43 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612048"> 612048 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/963?start=-3&limit=10&highlight=963"> 6q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612998"> Emery-Dreifuss muscular dystrophy 4, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612998"> 612998 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608441"> SYNE1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608441"> 608441 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/305?start=-3&limit=10&highlight=305"> 14q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612999"> Emery-Dreifuss muscular dystrophy 5, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612999"> 612999 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608442"> SYNE2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608442"> 608442 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/717?start=-3&limit=10&highlight=717"> Xq26.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300696"> Emery-Dreifuss muscular dystrophy 6, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>A number sign (#) is used with this entry because autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; <a href="/entry/150330">150330</a>) on chromosome 1q22.</p><p>Allelic disorders with overlapping phenotypes include LMNA-related congenital muscular dystrophy (<a href="/entry/613205">613205</a>) and dilated cardiomyopathy type 1A (CMD1A; <a href="/entry/115200">115200</a>).</p><p>Homozygous mutation in the LMNA gene causes EDMD3 (<a href="/entry/616516">616516</a>).</p>
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<p>EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; <a href="/entry/310300">310300</a>) is an X-linked disorder caused by mutation in the emerin gene (EMD; <a href="/entry/300384">300384</a>) on Xq28 (<a href="#7" class="mim-tip-reference" title="Emery, A. E. H. <strong>Emery-Dreifuss syndrome.</strong> J. Med. Genet. 26: 637-641, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2685312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2685312</a>] [<a href="https://doi.org/10.1136/jmg.26.10.637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2685312">Emery, 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2685312" 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>For a discussion of genetic heterogeneity of EDMD, see <a href="/entry/310300">310300</a>.</p>
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<p>Some cases of Emery-Dreifuss muscular dystrophy-2 were previously classified as a form of limb-girdle muscular dystrophy (type 1B; LGMD1B). LGMD1B was characterized as an autosomal dominant, slowly progressive limb-girdle muscular dystrophy with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. <a href="#20" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. <strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong> Neuromusc. Disord. 28: 702-710, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>] [<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30055862">Straub et al. (2018)</a>, on behalf of the LGMD workshop study group, reclassified LGMD1B as EDMD2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" 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="#12" class="mim-tip-reference" title="Jennekens, F. G. I., Busch, H. F. M., van Hemel, N. M., Hoogland, R. A. <strong>Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy: a study of two families.</strong> Brain 98: 709-722, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1218374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1218374</a>] [<a href="https://doi.org/10.1093/brain/98.4.709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1218374">Jennekens et al. (1975)</a> reported 2 unrelated Dutch families in which 26 members had slowly progressive muscle weakness with scapuloilioperoneal distribution and late-onset cardiomyopathy. Inheritance was autosomal dominant. Disease onset ranged from 17 to 42 years, and cardiomyopathy appeared late in the disease, always after skeletal muscle involvement. Skeletal muscle biopsies showed neurogenic and myopathic changes with inflammatory cell reaction and perivascular cuffing. The disorder was intermediate between typical limb-girdle muscular dystrophy (e.g., <a href="/entry/603511">603511</a>), in which weakness appears first in the pelvic girdle and thigh muscles, and from scapuloperoneal atrophy (e.g., <a href="/entry/181400">181400</a>), in which there is neurogenic weakness in the long extensors of the feet and toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1218374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chakrabarti, A., Pearce, J. M. S. <strong>Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.</strong> J. Neurol. Neurosurg. Psychiat. 44: 1146-1152, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7334411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7334411</a>] [<a href="https://doi.org/10.1136/jnnp.44.12.1146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7334411">Chakrabarti and Pearce (1981)</a> reported 4 members of a family with scapuloperoneal syndrome. Biopsies of skeletal muscle and spinal cord confirmed a myopathic basis of the muscular atrophy. The authors noted some unique features in this family, including early age at onset, rapid progression, early muscle contractures, and a high incidence of severe cardiomyopathy. <a href="#8" class="mim-tip-reference" title="Fenichel, G. M., Sul, Y. C., Kilroy, A. W., Blouin, R. <strong>An autosomal dominant dystrophy with humeropelvic distribution and cardiomyopathy.</strong> Neurology 32: 1399-1401, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6890649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6890649</a>] [<a href="https://doi.org/10.1212/wnl.32.12.1399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6890649">Fenichel et al. (1982)</a> reported autosomal dominant humeropelvic muscular dystrophy and cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7334411+6890649" 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="Miller, R. G., Layzer, R. B., Mellenthin, M. A., Golabi, M., Francoz, R. A., Mall, J. C. <strong>Emery-Dreifuss muscular dystrophy with autosomal dominant transmission.</strong> Neurology 35: 1230-1233, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4022362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4022362</a>] [<a href="https://doi.org/10.1212/wnl.35.8.1230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4022362">Miller et al. (1985)</a> reported a woman with early-onset, slowly progressive humeroperoneal muscle weakness and adult-onset cardiomyopathy. There was some pelvic girdle involvement. She had marked restriction of neck flexion beginning at age 11 years, with contractures of the posterior cervical muscles, elbows, and ankles. EMG and biopsies indicated a myopathy. At age 25 years, she was found to have atrial fibrillation with slow ventricular rate, necessitating a cardiac pacemaker. At age 30, she had difficulty climbing stairs or walking long distances because of leg weakness. Cervical spine imaging showed hypoplasia of vertebral bodies with partial fusion of apophyseal joints and reduced flexion. The patient's father was seen at age 35 because of limitation of neck flexion, noted weakness of leg muscles at age 38, became aware of cardiac abnormalities at age 39, began use of a cane at age 52, was chair-bound at age 60, and died at age 62 of progressive heart failure. <a href="#16" class="mim-tip-reference" title="Miller, R. G., Layzer, R. B., Mellenthin, M. A., Golabi, M., Francoz, R. A., Mall, J. C. <strong>Emery-Dreifuss muscular dystrophy with autosomal dominant transmission.</strong> Neurology 35: 1230-1233, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4022362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4022362</a>] [<a href="https://doi.org/10.1212/wnl.35.8.1230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4022362">Miller et al. (1985)</a> noted that the phenotype in this family was consistent with Emery-Dreifuss muscular dystrophy, but that the inheritance was autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4022362" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Becker, P. E. <strong>Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser).</strong> Hum. Genet. 74: 184 only, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3770746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3770746</a>] [<a href="https://doi.org/10.1007/BF00282089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3770746">Becker (1986)</a> suggested that the Hauptmann-Thannhauser eponym be attached to autosomal dominant muscular dystrophy with early contractures and cardiomyopathy because <a href="#11" class="mim-tip-reference" title="Hauptmann, A., Thannhauser, S. J. <strong>Muscular shortening and dystrophy: a heredofamilial disease.</strong> Arch. Neurol. Psychiat. 46: 654-664, 1941."None>Hauptmann and Thannhauser (1941)</a>, 2 German immigrants working in Boston, reported the disorder in a family of French Canadian descent in which 9 persons in 3 generations were affected by a form of muscular dystrophy 'not heretofore described in the literature.' The disorder was manifested by inability to flex the neck and slight webbing due to shortened muscle as well as limitation on spinal flexion and elbow extension from the same cause. The limb-girdle muscles were underdeveloped and weak. The condition was apparently not progressive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3770746" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Witt, T. N., Garner, C. G., Pongratz, D., Baur, X. <strong>Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease.</strong> Europ. Arch. Psychiat. Neurol. Sci. 237: 230-236, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3203701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3203701</a>] [<a href="https://doi.org/10.1007/BF00449912" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3203701">Witt et al. (1988)</a> described a German family with an autosomal dominant form of the Emery-Dreifuss syndrome. Several affected members died in middle age of sudden cardiac death and at least 2 had a pacemaker implanted. One patient had heart transplant. Four instances of male-to-male transmission were observed in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3203701" 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="#18" class="mim-tip-reference" title="Orstavik, K. H., Kloster, R., Lippestad, C., Rode, L., Hovig, T., Fuglseth, K. N. <strong>Emery-Dreifuss syndrome in three generations of females, including identical twins.</strong> Clin. Genet. 38: 447-451, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2289317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2289317</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03611.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2289317">Orstavik et al. (1990)</a> reported 4 females with EDMD, including a pair of identical twins, in 3 successive generations. All patients developed elbow contractures, scoliosis, and stiffness of the spine and neck from the age of about 10 years, with little progression in later years. The proband developed cardiomyopathy at age 45; her twin daughters had no signs of cardiomyopathy at age 21 years. The affected individuals were relatively short. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2289317" 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>Van der Kooi et al. (<a href="#21" class="mim-tip-reference" title="van der Kooi, A. J., Ledderhof, T. M., de Voogt, W. G., Res, C. J., Bouwsma, G., Troost, D., Busch, H. F., Becker, A. E., de Visser, M. <strong>A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.</strong> Ann. Neurol. 39: 636-642, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619549</a>] [<a href="https://doi.org/10.1002/ana.410390513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619549">1996</a>, <a href="#22" class="mim-tip-reference" title="van der Kooi, A. J., van Meegen, M., Ledderhof, T. M., McNally, E. M., de Visser, M., Bolhuis, P. A. <strong>Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.</strong> Am. J. Hum. Genet. 60: 891-895, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106535</a>]" pmid="9106535">1997</a>) described the clinical picture of 3 families with what the authors described as a form of autosomal dominant limb-girdle muscular dystrophy associated with cardiac involvement (LGMD1B). In affected individuals, symmetric weakness started in the proximal lower-limb muscles before the age of 20 years. In the third or fourth decade, upper-limb muscles gradually became affected as well. Early contractures of the spine were absent, and contractures of elbows and Achilles tendons were either minimal or late, distinguishing this disorder from Emery-Dreifuss muscular dystrophy. Serum creatine kinase activity was normal to moderately elevated. EMG and muscle biopsy were consistent with mild muscular dystrophy. Cardiologic abnormalities were found in 62.5% of the patients, including atrioventricular conduction disturbances and dysrhythmias, presenting as bradycardia, syncopal attacks necessitating pacemaker implantation, and sudden cardiac death at the age of approximately 50 years. Two patients had dilated cardiomyopathy. In nearly all patients, neuromuscular symptomatology preceded cardiologic involvement. <a href="#22" class="mim-tip-reference" title="van der Kooi, A. J., van Meegen, M., Ledderhof, T. M., McNally, E. M., de Visser, M., Bolhuis, P. A. <strong>Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.</strong> Am. J. Hum. Genet. 60: 891-895, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106535</a>]" pmid="9106535">Van der Kooi et al. (1997)</a> commented that the cardiologic abnormalities in these families, consisting predominantly of AV conduction disturbances, resembled closely the disorder in the family reported by <a href="#10" class="mim-tip-reference" title="Graber, H. L., Unverferth, D. V., Baker, P. B., Ryan, J. M., Baba, N., Wooley, C. F. <strong>Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected.</strong> Circulation 74: 21-35, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3708775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3708775</a>] [<a href="https://doi.org/10.1161/01.cir.74.1.21" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3708775">Graber et al. (1986)</a> (see CMD1A, <a href="/entry/115200">115200</a>). <a href="#21" class="mim-tip-reference" title="van der Kooi, A. J., Ledderhof, T. M., de Voogt, W. G., Res, C. J., Bouwsma, G., Troost, D., Busch, H. F., Becker, A. E., de Visser, M. <strong>A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.</strong> Ann. Neurol. 39: 636-642, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619549</a>] [<a href="https://doi.org/10.1002/ana.410390513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619549">Van der Kooi et al. (1996)</a> stated that the LGMD1B phenotype differs from autosomal dominant EDMD by the absence of significant contractures, the predominance of proximal limb weakness, and the occasional presence of calf hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3708775+8619549+9106535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Becane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., and 13 others. <strong>Clinical and molecular spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.</strong> Ann. Neurol. 48: 170-180, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10939567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10939567</a>]" pmid="10939567">Bonne et al. (2000)</a> reported phenotypic variability of EDMD2 among 53 patients, including 36 from 6 families and 17 sporadic cases. Twelve patients showed only cardiac involvement, whereas the remaining 41 all had muscle weakness and contractures. In addition, 12 patients had normal electrocardiographic findings, most of whom also had normal echocardiographic findings; these patients ranged in age from 4 to 25 years. Those with cardiac involvement had arrhythmias resulting in ventricular dysfunction. Skeletal muscle involvement included humeroperoneal wasting and weakness, scapular winging, rigidity of the spine, and elbow and Achilles tendon contractures. The disease course was generally slow, but there were 2 broad phenotypes: a milder one characterized by late onset and a mild degree of weakness and contractures, and a more severe phenotype with early presentation and a rapidly progressive course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10939567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M. <strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong> Hum. Mutat. 21: 473-481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673789</a>] [<a href="https://doi.org/10.1002/humu.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673789">Charniot et al. (2003)</a> described a French family with autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and a skeletal muscular dystrophy of the quadriceps muscles. Cardiac involvement preceded neuromuscular disease in all affected patients, whereas in previously reported cases with both cardiac and neuromuscular involvement, the neuromuscular disorders had preceded cardiac abnormalities. Twenty-nine members of the family were examined, of whom 11 were classified as affected and 4 had both cardiac and peripheral muscle symptoms. Average age at onset of cardiac symptoms was 40 years. Bilateral motor deficit of the quadriceps deteriorated progressively, without involvement of other muscles. Affected members had a heterozygous mutation in the LMNA gene (R377H; <a href="/entry/150330#0017">150330.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12673789" 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="#15" class="mim-tip-reference" title="Mercuri, E., Poppe, M., Quinlivan, R., Messina, S., Kinali, M., Demay, L., Bourke, J., Richard, P., Sewry, C., Pike, M., Bonne, G., Muntoni, F., Bushby, K. <strong>Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C Gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.</strong> Arch. Neurol. 61: 690-694, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15148145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15148145</a>] [<a href="https://doi.org/10.1001/archneur.61.5.690" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15148145">Mercuri et al. (2004)</a> reported 5 patients with the same mutation in the LMNA gene (E358K; <a href="/entry/150330#0049">150330.0049</a>) who had variable phenotypes including EDMD, LGMD, and congenital muscular dystrophy. One of the patients was 30-year-old woman, who was born to healthy nonconsanguineous parents. She was noted to be hypotonic at birth and had feeding difficulties, but motor development was within the normal range, although she was never able to run. At age 7 years, she had generalized hypotonia, waddling gait, and severe limb muscle wasting and weakness. The weakness progressed rapidly in early adulthood, and she became wheelchair-bound in her mid-twenties. Examination at age 30 showed marked midface hypoplasia with a broad nasal bridge. She also had features of lipodystrophy (FPLD2; <a href="/entry/151660">151660</a>), with increased subcutaneous adipose tissue in the back and facial region and extremely thin extremities. Contractures were present in the elbows, finger flexors, spine, and Achilles tendons. Cardiac involvement included recurrent atrial fibrillation and a brady/tachy syndrome. She also had respiratory insufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15148145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Wessely, R., Seidl, S., Schomig, A. <strong>Cardiac involvement in Emery-Dreifuss muscular dystrophy.</strong> Clin. Genet. 67: 220-223, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15691357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15691357</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00395.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15691357">Wessely et al. (2005)</a> reported a 20-year-old woman with EDMD caused by heterozygous mutation in the LMNA gene. She presented at age 20 years with syncope and dyspnea on exertion and was found to have severely decreased systolic function, first-degree heart block, left anterior hemiblock, and low-amplitude P waves on EKG. Cardiac muscle biopsy showed severe fibroadipose tissue replacement of the myocardium with interstitial fibrosis. She underwent successful cardiac transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15691357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Rudnik-Schoneborn, S., Botzenhart, E., Eggermann, T., Senderek, J., Schoser, B. G. H., Schroder, R., Wehnert, M., Wirth, B., Zerres, K. <strong>Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.</strong> Neurogenetics 8: 137-142, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17136397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17136397</a>] [<a href="https://doi.org/10.1007/s10048-006-0070-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17136397">Rudnik-Schoneborn et al. (2007)</a> reported 2 unrelated German women who had initially been diagnosed with adult-onset proximal spinal muscular atrophy (e.g., <a href="/entry/271150">271150</a> and <a href="/entry/182980">182980</a>). The first patient developed proximal muscle weakness in her thirties, followed by cardiac arrhythmia and dilated cardiomyopathy in her late fifties. Family history revealed that the paternal grandmother had proximal muscle weakness and died from heart disease at age 52, and a paternal aunt had 'walking difficulties' since youth. The patient's father and 4 cousins all had cardiac disease without muscle weakness ranging from nonspecific 'heart attacks' to dilated cardiomyopathy and arrhythmia. The second patient presented with slowly progressive proximal muscle weakness beginning in the lower extremities and later involving the upper extremities. EMG showed both neurogenic and myopathic defects in the quadriceps muscle. At age 53 years, she was diagnosed with atrioventricular conduction block and arrhythmia requiring pacemaker implantation. Family history showed that her mother had walking difficulties from age 40 years and died of a heart attack at age 54. Six other deceased family members had suspected cardiomyopathy without muscle involvement. In both patients, genetic analysis confirmed a heterozygous mutation in the LMNA gene (see <a href="/entry/150330#0017">150330.0017</a> and <a href="/entry/150330#0038">150330.0038</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17136397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Benedetti, S., Menditto, I., Degano, M., Rodolico, C., Merlini, L., D'Amico, A., Palmucci, L., Berardinelli, A., Pegoraro, E., Trevisan, C. P., Morandi, L., Moroni, I., and 15 others. <strong>Phenotypic clustering of lamin A/C mutations in neuromuscular patients.</strong> Neurology 69: 1285-1292, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17377071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17377071</a>] [<a href="https://doi.org/10.1212/01.wnl.0000261254.87181.80" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17377071">Benedetti et al. (2007)</a> reported 27 individuals with mutations in the LMNA gene resulting in a wide range of neuromuscular disorders. Phenotypic analysis yielded 2 broad groups of patients. One group included patients with childhood onset who had skeletal muscle involvement with predominant scapuloperoneal and facial weakness, consistent with EDMD or congenital muscular dystrophy. The second group included patients with later or adult onset who had cardiac disorders or a limb-girdle myopathy, consistent with LGMD1B. Features common to both groups included involvement of the neck or paravertebral muscles and an age-dependent development of cardiomyopathy, most after age 25 years. Both groups also had an increased frequency of sudden death in the family. Genetic analysis showed that individuals in the group with childhood onset tended to have missense mutations, whereas those in the group with adult onset tended to have truncating mutations. <a href="#2" class="mim-tip-reference" title="Benedetti, S., Menditto, I., Degano, M., Rodolico, C., Merlini, L., D'Amico, A., Palmucci, L., Berardinelli, A., Pegoraro, E., Trevisan, C. P., Morandi, L., Moroni, I., and 15 others. <strong>Phenotypic clustering of lamin A/C mutations in neuromuscular patients.</strong> Neurology 69: 1285-1292, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17377071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17377071</a>] [<a href="https://doi.org/10.1212/01.wnl.0000261254.87181.80" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17377071">Benedetti et al. (2007)</a> speculated that there may be 2 different pathogenetic mechanisms associated with neuromuscular LMNA-related disorders: late-onset phenotypes may arise through loss of LMNA function secondary to haploinsufficiency, whereas dominant-negative or toxic gain-of-function mechanisms may underly the more severe early phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17377071" 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="Makri, S., Clarke, N. F., Richard, P., Maugenre, S., Demay, L., Bonne, G., Guicheney, P. <strong>Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.</strong> Neuromusc. Disord. 19: 26-28, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19084400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19084400</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19084400">Makri et al. (2009)</a> reported 2 sisters with early-onset autosomal dominant muscular dystrophy most consistent with EDMD. Because the girls were born of consanguineous Algerian parents, they were at first thought to have an autosomal recessive congenital muscular dystrophy. However, genetic analysis identified a heterozygous mutation in the LMNA gene (R527P; <a href="/entry/150330#0003">150330.0003</a>) in both patients that was not present in either unaffected parent. The results were consistent with germline mosaicism or a recurrent de novo event. The older sib had a difficult birth and showed congenital hypotonia, diffuse weakness, and mild initial respiratory and feeding difficulties. She sat unsupported at age 2 years and walked independently from age 4 years with frequent falls and a waddling gait. At 13 years she had a high-arched palate, moderate limb hypotonia, and weakness of the pelvic muscles. There was proximal limb wasting, moderate cervical, elbow, and ankle contractures, pes cavus, spinal rigidity, and lordosis/scoliosis. Her sister had mild hypotonia in early infancy, walked without support at 24 months, and showed proximal muscle weakness. There were mild contractures of the elbow and ankles. At age 9 years, she showed adiposity of the neck, trunk and abdomen, consistent with lipodystrophy. Brain MRI and cognition were normal in both sisters, and neither had cardiac involvement. Muscle biopsies showed a dystrophic pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19084400" 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>Emery-Dreifuss muscular dystrophy-2 shows autosomal dominant inheritance (<a href="#4" class="mim-tip-reference" title="Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Becane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., and 13 others. <strong>Clinical and molecular spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.</strong> Ann. Neurol. 48: 170-180, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10939567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10939567</a>]" pmid="10939567">Bonne et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10939567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Manilal, S., Sewry, C. A., Pereboev, A., Man, N., Gobbi, P., Hawkes, S., Love, D. R., Morris, G. E. <strong>Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy.</strong> Hum. Molec. Genet. 8: 353-359, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9949197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9949197</a>] [<a href="https://doi.org/10.1093/hmg/8.2.353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9949197">Manilal et al. (1999)</a> noted that emerin, encoded by the gene mutant in classic X-linked EDMD, is normal in the autosomal form of EDMD. They found that the distribution of emerin most closely resembles that of lamin A/C. A functional interaction between emerin and lamin A in nuclei could explain the identical phenotype in the forms of EDMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9949197" 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="Zhang, Q., Bethmann, C., Worth, N. F., Davies, J. D., Wasner, C., Feuer, A., Ragnauth, C. D., Yi, Q., Mellad, J. A., Warren, D. T., Wheeler, M. A., Ellis, J. A., Skepper, J. N., Vorgerd, M., Schlotter-Weigel, B., Weissberg, P. L., Roberts, R. G., Wehnert, M., Shanahan, C. M. <strong>Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.</strong> Hum. Molec. Genet. 16: 2816-2833, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17761684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17761684</a>] [<a href="https://doi.org/10.1093/hmg/ddm238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17761684">Zhang et al. (2007)</a> identified mutations in the SYNE1 (<a href="/entry/608441">608441</a>) and SYNE2 (<a href="/entry/608442">608442</a>) genes in patients with EDMD4 (<a href="/entry/612998">612998</a>) and EDMD5 (<a href="/entry/612999">612999</a>). Skin fibroblasts from these patients showed similar defects in nuclear morphology as those described in patients with EDMD due to mutations in the LMNA and EMD genes. SYNE1 and SYNE2 mutant fibroblasts showed a convoluted appearance with micronuclei, giant, and fragmented nuclei, and chromatin reorganization. Patient fibroblasts and muscle cells showed loss of nuclear envelope integrity with mislocalization of LMNA and emerin. Immunofluorescent studies showed loss of SYNE1 or SYNE2 expression in the nuclear envelope and mitochondria of patient fibroblasts. These same changes were also observed in fibroblasts from patients with other genetic forms of EDMD, indicating that loss of nesprin is a characteristic of all forms of EDMD. RNA interference of SYNE1 or SYNE2 recapitulated the nuclear defects membrane defects and changes in the organization of intranuclear heterochromatin observed in patient cells. Overall, the findings showed the importance of the nesprin/emerin/lamin complex in the maintenance of nuclear stability, and suggested that changes in the binding stoichiometry of these proteins is a common feature of EDMD. <a href="#26" class="mim-tip-reference" title="Zhang, Q., Bethmann, C., Worth, N. F., Davies, J. D., Wasner, C., Feuer, A., Ragnauth, C. D., Yi, Q., Mellad, J. A., Warren, D. T., Wheeler, M. A., Ellis, J. A., Skepper, J. N., Vorgerd, M., Schlotter-Weigel, B., Weissberg, P. L., Roberts, R. G., Wehnert, M., Shanahan, C. M. <strong>Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.</strong> Hum. Molec. Genet. 16: 2816-2833, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17761684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17761684</a>] [<a href="https://doi.org/10.1093/hmg/ddm238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17761684">Zhang et al. (2007)</a> concluded that the disorder is caused in part by uncoupling of the nucleoskeleton and cytoskeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17761684" 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="#22" class="mim-tip-reference" title="van der Kooi, A. J., van Meegen, M., Ledderhof, T. M., McNally, E. M., de Visser, M., Bolhuis, P. A. <strong>Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.</strong> Am. J. Hum. Genet. 60: 891-895, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106535</a>]" pmid="9106535">Van der Kooi et al. (1997)</a> demonstrated linkage in their 3 families diagnosed with LGMD1B to chromosome 1q11-q21, with a combined maximum 2-point lod score greater than 12 at theta = 0.0. The concomitant presence of mild muscular dystrophy indicated a difference between the cardiomyopathy disorder in the family of <a href="#10" class="mim-tip-reference" title="Graber, H. L., Unverferth, D. V., Baker, P. B., Ryan, J. M., Baba, N., Wooley, C. F. <strong>Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected.</strong> Circulation 74: 21-35, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3708775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3708775</a>] [<a href="https://doi.org/10.1161/01.cir.74.1.21" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3708775">Graber et al. (1986)</a> and LGMD1B. However, the authors suggested that they could be allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3708775+9106535" 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 genetic linkage analysis of a large affected French pedigree, <a href="#3" class="mim-tip-reference" title="Bonne, G., Di Barletta, M. R., Varnous, S., Becane, H. M., Hammouda, E. H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J.-A., Duboc, D., Fardeau, M., Toniolo, D., Schwartz, K. <strong>Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 21: 285-288, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080180</a>] [<a href="https://doi.org/10.1038/6799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080180">Bonne et al. (1999)</a> mapped the locus for autosomal dominant Emery-Dreifuss muscular dystrophy to an 8-cM interval on chromosome 1q11-q23. Results from 4 other small affected families were suggestive of linkage to this locus. The authors noted that this region contains the lamin A/C gene (LMNA; <a href="/entry/150330">150330</a>), a candidate gene encoding 2 proteins of the nuclear lamina, lamins A and C, produced by alternative splicing. <a href="#3" class="mim-tip-reference" title="Bonne, G., Di Barletta, M. R., Varnous, S., Becane, H. M., Hammouda, E. H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J.-A., Duboc, D., Fardeau, M., Toniolo, D., Schwartz, K. <strong>Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 21: 285-288, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080180</a>] [<a href="https://doi.org/10.1038/6799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080180">Bonne et al. (1999)</a> noted that limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) had been mapped to the same 1q11-q23 region by <a href="#22" class="mim-tip-reference" title="van der Kooi, A. J., van Meegen, M., Ledderhof, T. M., McNally, E. M., de Visser, M., Bolhuis, P. A. <strong>Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.</strong> Am. J. Hum. Genet. 60: 891-895, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106535</a>]" pmid="9106535">van der Kooi et al. (1997)</a>, suggesting that the 2 disorders may be allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9106535+10080180" 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 affected members of 5 families with autosomal dominant EDMD, <a href="#3" class="mim-tip-reference" title="Bonne, G., Di Barletta, M. R., Varnous, S., Becane, H. M., Hammouda, E. H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J.-A., Duboc, D., Fardeau, M., Toniolo, D., Schwartz, K. <strong>Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.</strong> Nature Genet. 21: 285-288, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10080180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10080180</a>] [<a href="https://doi.org/10.1038/6799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10080180">Bonne et al. (1999)</a> identified 4 mutations in the LMNA gene that cosegregated with the disease phenotype (<a href="/entry/150330#0001">150330.0001</a>-<a href="/entry/150330#0004">150330.0004</a>). These findings represented the first identification of mutations in a component of the nuclear lamina as a cause of an inherited muscle disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10080180" 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 affected members of the 3 families diagnosed with LGMD1B linked to markers on chromosome 1q11-q21 by van der Kooi et al. (<a href="#21" class="mim-tip-reference" title="van der Kooi, A. J., Ledderhof, T. M., de Voogt, W. G., Res, C. J., Bouwsma, G., Troost, D., Busch, H. F., Becker, A. E., de Visser, M. <strong>A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.</strong> Ann. Neurol. 39: 636-642, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619549</a>] [<a href="https://doi.org/10.1002/ana.410390513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619549">1996</a>, <a href="#22" class="mim-tip-reference" title="van der Kooi, A. J., van Meegen, M., Ledderhof, T. M., McNally, E. M., de Visser, M., Bolhuis, P. A. <strong>Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.</strong> Am. J. Hum. Genet. 60: 891-895, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106535</a>]" pmid="9106535">1997</a>), <a href="#17" class="mim-tip-reference" title="Muchir, A., Bonne, G., van der Kooi, A. J., van Meegen, M., Baas, F., Bolhuis, P. A., de Visser, M., Schwartz, K. <strong>Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).</strong> Hum. Molec. Genet. 9: 1453-1459, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814726</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814726">Muchir et al. (2000)</a> identified mutations in the LMNA gene: a missense mutation (<a href="/entry/150330#0017">150330.0017</a>), a deletion of a codon (<a href="/entry/150330#0018">150330.0018</a>), and a splice donor site mutation (<a href="/entry/150330#0019">150330.0019</a>). The 3 mutations were identified in all affected members of the corresponding families and were absent in 100 unrelated control subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8619549+10814726+9106535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Becane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., and 13 others. <strong>Clinical and molecular spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.</strong> Ann. Neurol. 48: 170-180, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10939567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10939567</a>]" pmid="10939567">Bonne et al. (2000)</a> identified 18 different LMNA mutations among 53 patients with EDMD2. Mutations included 1 nonsense mutation, 2 deletions of a codon, and 15 missense mutations. All mutations were distributed between exons 1 and 9 in the region of LMNA common to both lamins A and C. Most (76%) of the mutations were de novo events. There were no clear genotype/phenotype correlations and there was marked inter- and intrafamilial variability even in those with the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10939567" 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 all but 1 affected member of a family diagnosed with LGMD1B, <a href="#23" class="mim-tip-reference" title="van Engelen, B. G. M., Muchir, A., Hutchison, C. J., van der Kooi, A. J., Bonne, G., Lammens, M. <strong>The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.</strong> Neurology 64: 374-376, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668447</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149763.15180.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668447">van Engelen et al. (2005)</a> identified a heterozygous mutation in the LMNA gene (Y259X; <a href="/entry/150330#0035">150330.0035</a>); the exception was a newborn who was homozygous for the mutation. The heterozygous Y259 mutation led to the classic LGMD1B phenotype, whereas the homozygous mutation caused a lethal phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668447" 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 affected members of a French family with autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and a skeletal muscular dystrophy of the quadriceps muscles, <a href="#6" class="mim-tip-reference" title="Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M. <strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong> Hum. Mutat. 21: 473-481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673789</a>] [<a href="https://doi.org/10.1002/humu.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673789">Charniot et al. (2003)</a> identified a heterozygous mutation in the LMNA gene (<a href="/entry/150330#0017">150330.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12673789" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3770746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3770746</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3770746" 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.26.10.637" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.32.12.1399" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1986.00520070088026" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/98.4.709" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.61.5.690" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17136397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17136397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17136397" 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/s10048-006-0070-0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Straub2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Straub, V., Murphy, A., Udd, B.
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<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
|
|
Neuromusc. Disord. 28: 702-710, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank">Full Text</a>]
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="van der Kooi1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van der Kooi, A. J., Ledderhof, T. M., de Voogt, W. G., Res, C. J., Bouwsma, G., Troost, D., Busch, H. F., Becker, A. E., de Visser, M.
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|
<strong>A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.</strong>
|
|
Ann. Neurol. 39: 636-642, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8619549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410390513" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="van der Kooi1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van der Kooi, A. J., van Meegen, M., Ledderhof, T. M., McNally, E. M., de Visser, M., Bolhuis, P. A.
|
|
<strong>Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.</strong>
|
|
Am. J. Hum. Genet. 60: 891-895, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="van Engelen2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Engelen, B. G. M., Muchir, A., Hutchison, C. J., van der Kooi, A. J., Bonne, G., Lammens, M.
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<strong>The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.</strong>
|
|
Neurology 64: 374-376, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668447" 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.0000149763.15180.00" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Wessely2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wessely, R., Seidl, S., Schomig, A.
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<strong>Cardiac involvement in Emery-Dreifuss muscular dystrophy.</strong>
|
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Clin. Genet. 67: 220-223, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15691357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15691357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15691357" 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/10.1111/j.1399-0004.2004.00395.x" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Witt1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witt, T. N., Garner, C. G., Pongratz, D., Baur, X.
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<strong>Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease.</strong>
|
|
Europ. Arch. Psychiat. Neurol. Sci. 237: 230-236, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3203701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3203701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3203701" 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/BF00449912" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Zhang2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, Q., Bethmann, C., Worth, N. F., Davies, J. D., Wasner, C., Feuer, A., Ragnauth, C. D., Yi, Q., Mellad, J. A., Warren, D. T., Wheeler, M. A., Ellis, J. A., Skepper, J. N., Vorgerd, M., Schlotter-Weigel, B., Weissberg, P. L., Roberts, R. G., Wehnert, M., Shanahan, C. M.
|
|
<strong>Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.</strong>
|
|
Hum. Molec. Genet. 16: 2816-2833, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17761684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17761684</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17761684" 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/ddm238" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/13/2015
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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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Cassandra L. Kniffin - updated : 1/5/2010<br>Cassandra L. Kniffin - updated : 9/2/2009<br>Cassandra L. Kniffin - updated : 4/14/2005<br>Victor A. McKusick - updated : 10/20/2004<br>George E. Tiller - updated : 8/16/2000<br>Victor A. McKusick - updated : 2/23/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/27/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/26/2018<br>carol : 09/25/2018<br>carol : 09/19/2018<br>carol : 08/17/2015<br>ckniffin : 8/13/2015<br>carol : 6/15/2014<br>carol : 2/25/2014<br>carol : 3/21/2011<br>carol : 1/6/2010<br>ckniffin : 1/5/2010<br>ckniffin : 1/5/2010<br>wwang : 9/9/2009<br>ckniffin : 9/2/2009<br>tkritzer : 4/19/2005<br>ckniffin : 4/14/2005<br>terry : 10/20/2004<br>tkritzer : 2/18/2004<br>carol : 1/8/2003<br>carol : 4/2/2002<br>terry : 3/21/2001<br>alopez : 8/16/2000<br>alopez : 8/16/2000<br>carol : 7/11/2000<br>carol : 5/9/2000<br>carol : 4/28/1999<br>carol : 4/28/1999<br>mgross : 3/10/1999<br>alopez : 3/1/1999<br>alopez : 2/26/1999<br>terry : 2/23/1999<br>terry : 6/5/1998<br>alopez : 7/23/1997<br>mimadm : 3/25/1995<br>supermim : 3/16/1992<br>carol : 1/8/1991<br>supermim : 3/20/1990<br>supermim : 1/20/1990<br>supermim : 1/3/1990
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>#</strong> 181350
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
EMD2<br />
|
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT<br />
|
|
SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY<br />
|
|
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT<br />
|
|
HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY<br />
|
|
CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY<br />
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FORMERLY; LGMD1B, FORMERLY<br />
|
|
MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1010712009;
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<strong>ORPHA:</strong> 261, 98853;
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<strong>DO:</strong> 0070247;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<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>
|
|
Phenotype <br /> MIM number
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
1q22
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
181350
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
LMNA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
150330
|
|
</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q22.</p><p>Allelic disorders with overlapping phenotypes include LMNA-related congenital muscular dystrophy (613205) and dilated cardiomyopathy type 1A (CMD1A; 115200).</p><p>Homozygous mutation in the LMNA gene causes EDMD3 (616516).</p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<p>EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; 310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989). </p><p>For a discussion of genetic heterogeneity of EDMD, see 310300.</p>
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<strong>Nomenclature</strong>
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<p>Some cases of Emery-Dreifuss muscular dystrophy-2 were previously classified as a form of limb-girdle muscular dystrophy (type 1B; LGMD1B). LGMD1B was characterized as an autosomal dominant, slowly progressive limb-girdle muscular dystrophy with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. Straub et al. (2018), on behalf of the LGMD workshop study group, reclassified LGMD1B as EDMD2. </p>
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<strong>Clinical Features</strong>
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<p>Jennekens et al. (1975) reported 2 unrelated Dutch families in which 26 members had slowly progressive muscle weakness with scapuloilioperoneal distribution and late-onset cardiomyopathy. Inheritance was autosomal dominant. Disease onset ranged from 17 to 42 years, and cardiomyopathy appeared late in the disease, always after skeletal muscle involvement. Skeletal muscle biopsies showed neurogenic and myopathic changes with inflammatory cell reaction and perivascular cuffing. The disorder was intermediate between typical limb-girdle muscular dystrophy (e.g., 603511), in which weakness appears first in the pelvic girdle and thigh muscles, and from scapuloperoneal atrophy (e.g., 181400), in which there is neurogenic weakness in the long extensors of the feet and toes. </p><p>Chakrabarti and Pearce (1981) reported 4 members of a family with scapuloperoneal syndrome. Biopsies of skeletal muscle and spinal cord confirmed a myopathic basis of the muscular atrophy. The authors noted some unique features in this family, including early age at onset, rapid progression, early muscle contractures, and a high incidence of severe cardiomyopathy. Fenichel et al. (1982) reported autosomal dominant humeropelvic muscular dystrophy and cardiomyopathy. </p><p>Miller et al. (1985) reported a woman with early-onset, slowly progressive humeroperoneal muscle weakness and adult-onset cardiomyopathy. There was some pelvic girdle involvement. She had marked restriction of neck flexion beginning at age 11 years, with contractures of the posterior cervical muscles, elbows, and ankles. EMG and biopsies indicated a myopathy. At age 25 years, she was found to have atrial fibrillation with slow ventricular rate, necessitating a cardiac pacemaker. At age 30, she had difficulty climbing stairs or walking long distances because of leg weakness. Cervical spine imaging showed hypoplasia of vertebral bodies with partial fusion of apophyseal joints and reduced flexion. The patient's father was seen at age 35 because of limitation of neck flexion, noted weakness of leg muscles at age 38, became aware of cardiac abnormalities at age 39, began use of a cane at age 52, was chair-bound at age 60, and died at age 62 of progressive heart failure. Miller et al. (1985) noted that the phenotype in this family was consistent with Emery-Dreifuss muscular dystrophy, but that the inheritance was autosomal dominant. </p><p>Becker (1986) suggested that the Hauptmann-Thannhauser eponym be attached to autosomal dominant muscular dystrophy with early contractures and cardiomyopathy because Hauptmann and Thannhauser (1941), 2 German immigrants working in Boston, reported the disorder in a family of French Canadian descent in which 9 persons in 3 generations were affected by a form of muscular dystrophy 'not heretofore described in the literature.' The disorder was manifested by inability to flex the neck and slight webbing due to shortened muscle as well as limitation on spinal flexion and elbow extension from the same cause. The limb-girdle muscles were underdeveloped and weak. The condition was apparently not progressive. </p><p>Witt et al. (1988) described a German family with an autosomal dominant form of the Emery-Dreifuss syndrome. Several affected members died in middle age of sudden cardiac death and at least 2 had a pacemaker implanted. One patient had heart transplant. Four instances of male-to-male transmission were observed in the family. </p><p>Orstavik et al. (1990) reported 4 females with EDMD, including a pair of identical twins, in 3 successive generations. All patients developed elbow contractures, scoliosis, and stiffness of the spine and neck from the age of about 10 years, with little progression in later years. The proband developed cardiomyopathy at age 45; her twin daughters had no signs of cardiomyopathy at age 21 years. The affected individuals were relatively short. </p><p>Van der Kooi et al. (1996, 1997) described the clinical picture of 3 families with what the authors described as a form of autosomal dominant limb-girdle muscular dystrophy associated with cardiac involvement (LGMD1B). In affected individuals, symmetric weakness started in the proximal lower-limb muscles before the age of 20 years. In the third or fourth decade, upper-limb muscles gradually became affected as well. Early contractures of the spine were absent, and contractures of elbows and Achilles tendons were either minimal or late, distinguishing this disorder from Emery-Dreifuss muscular dystrophy. Serum creatine kinase activity was normal to moderately elevated. EMG and muscle biopsy were consistent with mild muscular dystrophy. Cardiologic abnormalities were found in 62.5% of the patients, including atrioventricular conduction disturbances and dysrhythmias, presenting as bradycardia, syncopal attacks necessitating pacemaker implantation, and sudden cardiac death at the age of approximately 50 years. Two patients had dilated cardiomyopathy. In nearly all patients, neuromuscular symptomatology preceded cardiologic involvement. Van der Kooi et al. (1997) commented that the cardiologic abnormalities in these families, consisting predominantly of AV conduction disturbances, resembled closely the disorder in the family reported by Graber et al. (1986) (see CMD1A, 115200). Van der Kooi et al. (1996) stated that the LGMD1B phenotype differs from autosomal dominant EDMD by the absence of significant contractures, the predominance of proximal limb weakness, and the occasional presence of calf hypertrophy. </p><p>Bonne et al. (2000) reported phenotypic variability of EDMD2 among 53 patients, including 36 from 6 families and 17 sporadic cases. Twelve patients showed only cardiac involvement, whereas the remaining 41 all had muscle weakness and contractures. In addition, 12 patients had normal electrocardiographic findings, most of whom also had normal echocardiographic findings; these patients ranged in age from 4 to 25 years. Those with cardiac involvement had arrhythmias resulting in ventricular dysfunction. Skeletal muscle involvement included humeroperoneal wasting and weakness, scapular winging, rigidity of the spine, and elbow and Achilles tendon contractures. The disease course was generally slow, but there were 2 broad phenotypes: a milder one characterized by late onset and a mild degree of weakness and contractures, and a more severe phenotype with early presentation and a rapidly progressive course. </p><p>Charniot et al. (2003) described a French family with autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and a skeletal muscular dystrophy of the quadriceps muscles. Cardiac involvement preceded neuromuscular disease in all affected patients, whereas in previously reported cases with both cardiac and neuromuscular involvement, the neuromuscular disorders had preceded cardiac abnormalities. Twenty-nine members of the family were examined, of whom 11 were classified as affected and 4 had both cardiac and peripheral muscle symptoms. Average age at onset of cardiac symptoms was 40 years. Bilateral motor deficit of the quadriceps deteriorated progressively, without involvement of other muscles. Affected members had a heterozygous mutation in the LMNA gene (R377H; 150330.0017). </p><p>Mercuri et al. (2004) reported 5 patients with the same mutation in the LMNA gene (E358K; 150330.0049) who had variable phenotypes including EDMD, LGMD, and congenital muscular dystrophy. One of the patients was 30-year-old woman, who was born to healthy nonconsanguineous parents. She was noted to be hypotonic at birth and had feeding difficulties, but motor development was within the normal range, although she was never able to run. At age 7 years, she had generalized hypotonia, waddling gait, and severe limb muscle wasting and weakness. The weakness progressed rapidly in early adulthood, and she became wheelchair-bound in her mid-twenties. Examination at age 30 showed marked midface hypoplasia with a broad nasal bridge. She also had features of lipodystrophy (FPLD2; 151660), with increased subcutaneous adipose tissue in the back and facial region and extremely thin extremities. Contractures were present in the elbows, finger flexors, spine, and Achilles tendons. Cardiac involvement included recurrent atrial fibrillation and a brady/tachy syndrome. She also had respiratory insufficiency. </p><p>Wessely et al. (2005) reported a 20-year-old woman with EDMD caused by heterozygous mutation in the LMNA gene. She presented at age 20 years with syncope and dyspnea on exertion and was found to have severely decreased systolic function, first-degree heart block, left anterior hemiblock, and low-amplitude P waves on EKG. Cardiac muscle biopsy showed severe fibroadipose tissue replacement of the myocardium with interstitial fibrosis. She underwent successful cardiac transplantation. </p><p>Rudnik-Schoneborn et al. (2007) reported 2 unrelated German women who had initially been diagnosed with adult-onset proximal spinal muscular atrophy (e.g., 271150 and 182980). The first patient developed proximal muscle weakness in her thirties, followed by cardiac arrhythmia and dilated cardiomyopathy in her late fifties. Family history revealed that the paternal grandmother had proximal muscle weakness and died from heart disease at age 52, and a paternal aunt had 'walking difficulties' since youth. The patient's father and 4 cousins all had cardiac disease without muscle weakness ranging from nonspecific 'heart attacks' to dilated cardiomyopathy and arrhythmia. The second patient presented with slowly progressive proximal muscle weakness beginning in the lower extremities and later involving the upper extremities. EMG showed both neurogenic and myopathic defects in the quadriceps muscle. At age 53 years, she was diagnosed with atrioventricular conduction block and arrhythmia requiring pacemaker implantation. Family history showed that her mother had walking difficulties from age 40 years and died of a heart attack at age 54. Six other deceased family members had suspected cardiomyopathy without muscle involvement. In both patients, genetic analysis confirmed a heterozygous mutation in the LMNA gene (see 150330.0017 and 150330.0038). </p><p>Benedetti et al. (2007) reported 27 individuals with mutations in the LMNA gene resulting in a wide range of neuromuscular disorders. Phenotypic analysis yielded 2 broad groups of patients. One group included patients with childhood onset who had skeletal muscle involvement with predominant scapuloperoneal and facial weakness, consistent with EDMD or congenital muscular dystrophy. The second group included patients with later or adult onset who had cardiac disorders or a limb-girdle myopathy, consistent with LGMD1B. Features common to both groups included involvement of the neck or paravertebral muscles and an age-dependent development of cardiomyopathy, most after age 25 years. Both groups also had an increased frequency of sudden death in the family. Genetic analysis showed that individuals in the group with childhood onset tended to have missense mutations, whereas those in the group with adult onset tended to have truncating mutations. Benedetti et al. (2007) speculated that there may be 2 different pathogenetic mechanisms associated with neuromuscular LMNA-related disorders: late-onset phenotypes may arise through loss of LMNA function secondary to haploinsufficiency, whereas dominant-negative or toxic gain-of-function mechanisms may underly the more severe early phenotypes. </p><p>Makri et al. (2009) reported 2 sisters with early-onset autosomal dominant muscular dystrophy most consistent with EDMD. Because the girls were born of consanguineous Algerian parents, they were at first thought to have an autosomal recessive congenital muscular dystrophy. However, genetic analysis identified a heterozygous mutation in the LMNA gene (R527P; 150330.0003) in both patients that was not present in either unaffected parent. The results were consistent with germline mosaicism or a recurrent de novo event. The older sib had a difficult birth and showed congenital hypotonia, diffuse weakness, and mild initial respiratory and feeding difficulties. She sat unsupported at age 2 years and walked independently from age 4 years with frequent falls and a waddling gait. At 13 years she had a high-arched palate, moderate limb hypotonia, and weakness of the pelvic muscles. There was proximal limb wasting, moderate cervical, elbow, and ankle contractures, pes cavus, spinal rigidity, and lordosis/scoliosis. Her sister had mild hypotonia in early infancy, walked without support at 24 months, and showed proximal muscle weakness. There were mild contractures of the elbow and ankles. At age 9 years, she showed adiposity of the neck, trunk and abdomen, consistent with lipodystrophy. Brain MRI and cognition were normal in both sisters, and neither had cardiac involvement. Muscle biopsies showed a dystrophic pattern. </p>
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<strong>Inheritance</strong>
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<p>Emery-Dreifuss muscular dystrophy-2 shows autosomal dominant inheritance (Bonne et al., 2000). </p>
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<strong>Pathogenesis</strong>
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<p>Manilal et al. (1999) noted that emerin, encoded by the gene mutant in classic X-linked EDMD, is normal in the autosomal form of EDMD. They found that the distribution of emerin most closely resembles that of lamin A/C. A functional interaction between emerin and lamin A in nuclei could explain the identical phenotype in the forms of EDMD. </p><p>Zhang et al. (2007) identified mutations in the SYNE1 (608441) and SYNE2 (608442) genes in patients with EDMD4 (612998) and EDMD5 (612999). Skin fibroblasts from these patients showed similar defects in nuclear morphology as those described in patients with EDMD due to mutations in the LMNA and EMD genes. SYNE1 and SYNE2 mutant fibroblasts showed a convoluted appearance with micronuclei, giant, and fragmented nuclei, and chromatin reorganization. Patient fibroblasts and muscle cells showed loss of nuclear envelope integrity with mislocalization of LMNA and emerin. Immunofluorescent studies showed loss of SYNE1 or SYNE2 expression in the nuclear envelope and mitochondria of patient fibroblasts. These same changes were also observed in fibroblasts from patients with other genetic forms of EDMD, indicating that loss of nesprin is a characteristic of all forms of EDMD. RNA interference of SYNE1 or SYNE2 recapitulated the nuclear defects membrane defects and changes in the organization of intranuclear heterochromatin observed in patient cells. Overall, the findings showed the importance of the nesprin/emerin/lamin complex in the maintenance of nuclear stability, and suggested that changes in the binding stoichiometry of these proteins is a common feature of EDMD. Zhang et al. (2007) concluded that the disorder is caused in part by uncoupling of the nucleoskeleton and cytoskeleton. </p>
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<strong>Mapping</strong>
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<p>Van der Kooi et al. (1997) demonstrated linkage in their 3 families diagnosed with LGMD1B to chromosome 1q11-q21, with a combined maximum 2-point lod score greater than 12 at theta = 0.0. The concomitant presence of mild muscular dystrophy indicated a difference between the cardiomyopathy disorder in the family of Graber et al. (1986) and LGMD1B. However, the authors suggested that they could be allelic disorders. </p><p>By genetic linkage analysis of a large affected French pedigree, Bonne et al. (1999) mapped the locus for autosomal dominant Emery-Dreifuss muscular dystrophy to an 8-cM interval on chromosome 1q11-q23. Results from 4 other small affected families were suggestive of linkage to this locus. The authors noted that this region contains the lamin A/C gene (LMNA; 150330), a candidate gene encoding 2 proteins of the nuclear lamina, lamins A and C, produced by alternative splicing. Bonne et al. (1999) noted that limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) had been mapped to the same 1q11-q23 region by van der Kooi et al. (1997), suggesting that the 2 disorders may be allelic. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 5 families with autosomal dominant EDMD, Bonne et al. (1999) identified 4 mutations in the LMNA gene that cosegregated with the disease phenotype (150330.0001-150330.0004). These findings represented the first identification of mutations in a component of the nuclear lamina as a cause of an inherited muscle disorder. </p><p>In affected members of the 3 families diagnosed with LGMD1B linked to markers on chromosome 1q11-q21 by van der Kooi et al. (1996, 1997), Muchir et al. (2000) identified mutations in the LMNA gene: a missense mutation (150330.0017), a deletion of a codon (150330.0018), and a splice donor site mutation (150330.0019). The 3 mutations were identified in all affected members of the corresponding families and were absent in 100 unrelated control subjects. </p><p>Bonne et al. (2000) identified 18 different LMNA mutations among 53 patients with EDMD2. Mutations included 1 nonsense mutation, 2 deletions of a codon, and 15 missense mutations. All mutations were distributed between exons 1 and 9 in the region of LMNA common to both lamins A and C. Most (76%) of the mutations were de novo events. There were no clear genotype/phenotype correlations and there was marked inter- and intrafamilial variability even in those with the same mutation. </p><p>In all but 1 affected member of a family diagnosed with LGMD1B, van Engelen et al. (2005) identified a heterozygous mutation in the LMNA gene (Y259X; 150330.0035); the exception was a newborn who was homozygous for the mutation. The heterozygous Y259 mutation led to the classic LGMD1B phenotype, whereas the homozygous mutation caused a lethal phenotype. </p><p>In affected members of a French family with autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and a skeletal muscular dystrophy of the quadriceps muscles, Charniot et al. (2003) identified a heterozygous mutation in the LMNA gene (150330.0017). </p>
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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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Gilchrist and Leshner (1986)
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Becker, P. E.
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<strong>Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser).</strong>
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Hum. Genet. 74: 184 only, 1986.
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[PubMed: 3770746]
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[Full Text: https://doi.org/10.1007/BF00282089]
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Benedetti, S., Menditto, I., Degano, M., Rodolico, C., Merlini, L., D'Amico, A., Palmucci, L., Berardinelli, A., Pegoraro, E., Trevisan, C. P., Morandi, L., Moroni, I., and 15 others.
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<strong>Phenotypic clustering of lamin A/C mutations in neuromuscular patients.</strong>
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Neurology 69: 1285-1292, 2007.
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[PubMed: 17377071]
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[Full Text: https://doi.org/10.1212/01.wnl.0000261254.87181.80]
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Bonne, G., Di Barletta, M. R., Varnous, S., Becane, H. M., Hammouda, E. H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J.-A., Duboc, D., Fardeau, M., Toniolo, D., Schwartz, K.
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<strong>Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.</strong>
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Nature Genet. 21: 285-288, 1999.
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[PubMed: 10080180]
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[Full Text: https://doi.org/10.1038/6799]
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Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Becane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., and 13 others.
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<strong>Clinical and molecular spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.</strong>
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Ann. Neurol. 48: 170-180, 2000.
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[PubMed: 10939567]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chakrabarti, A., Pearce, J. M. S.
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<strong>Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.</strong>
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J. Neurol. Neurosurg. Psychiat. 44: 1146-1152, 1981.
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[PubMed: 7334411]
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[Full Text: https://doi.org/10.1136/jnnp.44.12.1146]
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<p class="mim-text-font">
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Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M.
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<strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong>
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Hum. Mutat. 21: 473-481, 2003.
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[PubMed: 12673789]
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[Full Text: https://doi.org/10.1002/humu.10170]
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<li>
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<p class="mim-text-font">
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Emery, A. E. H.
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<strong>Emery-Dreifuss syndrome.</strong>
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J. Med. Genet. 26: 637-641, 1989.
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[PubMed: 2685312]
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[Full Text: https://doi.org/10.1136/jmg.26.10.637]
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<li>
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<p class="mim-text-font">
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Fenichel, G. M., Sul, Y. C., Kilroy, A. W., Blouin, R.
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<strong>An autosomal dominant dystrophy with humeropelvic distribution and cardiomyopathy.</strong>
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Neurology 32: 1399-1401, 1982.
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[PubMed: 6890649]
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[Full Text: https://doi.org/10.1212/wnl.32.12.1399]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gilchrist, J. M., Leshner, R. T.
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<strong>Autosomal dominant humeroperoneal myopathy.</strong>
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Arch. Neurol. 43: 734-735, 1986.
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[PubMed: 3729752]
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[Full Text: https://doi.org/10.1001/archneur.1986.00520070088026]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Graber, H. L., Unverferth, D. V., Baker, P. B., Ryan, J. M., Baba, N., Wooley, C. F.
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<strong>Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected.</strong>
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Circulation 74: 21-35, 1986.
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[PubMed: 3708775]
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[Full Text: https://doi.org/10.1161/01.cir.74.1.21]
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</p>
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