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<title>
Entry
- #612998 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4
- OMIM
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<span class="h4">#612998</span>
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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/612998"><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="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT) OR (SYNE1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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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…&nbsp;</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…&nbsp;</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8305" 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 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><a href="https://www.alliancegenome.org/disease/DOID:0070249" 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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 261, 98853<br />
<strong>DO:</strong> 0070249<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
612998
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
</span>
</h4>
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<br />
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
</th>
<th>
Phenotype <br /> mapping key
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Gene/Locus
</th>
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Gene/Locus <br /> MIM number
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</thead>
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<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">
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612998"> 612998 </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">
SYNE1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608441"> 608441 </a>
</span>
</td>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
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<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>
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<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
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<div>
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<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neck muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span><br /> -
Neck muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751810</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">
- Ventricular and septal hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111027004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111027004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344955&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344955</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005144" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005144</a>]</span><br /> -
Mild diastolic dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751808&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751808</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3545003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3545003</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">
- Muscle weakness and atrophy, proximal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676670</a>]</span><br /> -
Muscle biopsy shows dystrophic pattern <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850878</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">
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</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">
- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Two unrelated patients have been reported (last curated July 2019)<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 synaptic nuclear envelope protein 1 gene (SYNE1, <a href="/entry/608441#0008">608441.0008</a>).<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<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>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614302"> 614302 </a>
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<span class="mim-font">
<a href="/entry/612048"> TMEM43 </a>
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<span class="mim-font">
<a href="/entry/612048"> 612048 </a>
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<span class="mim-font">
<a href="/geneMap/6/963?start=-3&limit=10&highlight=963"> 6q25.2 </a>
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<span class="mim-font">
<a href="/entry/612998"> Emery-Dreifuss muscular dystrophy 4, autosomal dominant </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/612998"> 612998 </a>
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<a href="/entry/608441"> SYNE1 </a>
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<span class="mim-font">
<a href="/entry/608441"> 608441 </a>
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<span class="mim-font">
<a href="/geneMap/14/305?start=-3&limit=10&highlight=305"> 14q23.2 </a>
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<span class="mim-font">
<a href="/entry/612999"> Emery-Dreifuss muscular dystrophy 5, autosomal dominant </a>
</span>
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<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/612999"> 612999 </a>
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</td>
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<span class="mim-font">
<a href="/entry/608442"> SYNE2 </a>
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<span class="mim-font">
<a href="/entry/608442"> 608442 </a>
</span>
</td>
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<tr>
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<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">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300696"> 300696 </a>
</span>
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<span class="mim-font">
<a href="/entry/300163"> FHL1 </a>
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<span class="mim-font">
<a href="/entry/300163"> 300163 </a>
</span>
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<span class="mim-font">
<a href="/geneMap/X/717?start=-3&limit=10&highlight=717"> Xq26.3 </a>
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<span class="mim-font">
<a href="/entry/300696"> Myopathy, X-linked, with postural muscle atrophy </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300696"> 300696 </a>
</span>
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<td>
<span class="mim-font">
<a href="/entry/300163"> FHL1 </a>
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<td>
<span class="mim-font">
<a href="/entry/300163"> 300163 </a>
</span>
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<span class="mim-font">
<a href="/geneMap/X/858?start=-3&limit=10&highlight=858"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310300"> Emery-Dreifuss muscular dystrophy 1, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
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<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/310300"> 310300 </a>
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<span class="mim-font">
<a href="/entry/300384"> EMD </a>
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<span class="mim-font">
<a href="/entry/300384"> 300384 </a>
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</table>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Emery-Dreifuss muscular dystrophy-4 (EDMD4) is caused by heterozygous mutation in the SYNE1 gene (<a href="/entry/608441">608441</a>) on chromosome 6q25.</p><p>For a discussion of genetic heterogeneity of EDMD, see <a href="/entry/310300">310300</a>.</p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#1" 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. &lt;strong&gt;Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.&lt;/strong&gt; Hum. Molec. Genet. 16: 2816-2833, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17761684/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17761684&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm238&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17761684">Zhang et al. (2007)</a> reported a man with onset of a slowly progressive muscular dystrophy from age 11 years. The disorder was characterized by weakness and atrophy of the neck and shoulder girdle muscles with progressive development of limb contractures. There was no apparent cardiac involvement. EMG showed a myopathic pattern, and biopsy showed dystrophic changes. Creatine kinase was mildly elevated. He became wheelchair-bound at age 26 years. The authors reported a second unrelated patient was found incidentally to have an increased serum creatine kinase level at age 47 years. Cardiac work-up showed slight left ventricular basal and septal hypertrophy with mild diastolic dysfunction. There were no neuromuscular symptoms other than intermittent minor weakness of the left arm muscles. <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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<strong>Pathogenesis</strong>
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<p>Skin fibroblasts from EDMD patients with SYNE1 mutations showed similar defects in nuclear morphology as those described in patients with EDMD due to LMNA (<a href="/entry/150330">150330</a>) and emerin (EMD; <a href="/entry/300384">300384</a>) mutations. SYNE1 and SYNE2 (<a href="/entry/608442">608442</a>) 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 feature of EDMD. <a href="#1" 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. &lt;strong&gt;Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.&lt;/strong&gt; Hum. Molec. Genet. 16: 2816-2833, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17761684/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17761684&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm238&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" 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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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In 2 unrelated probands with EDMD4, <a href="#1" 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. &lt;strong&gt;Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.&lt;/strong&gt; Hum. Molec. Genet. 16: 2816-2833, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17761684/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17761684&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm238&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17761684">Zhang et al. (2007)</a> identified 2 different heterozygous mutations in the SYNE1 gene (R257H, <a href="/entry/608441#0008">608441.0008</a> and E646K, <a href="/entry/608441#0010">608441.0010</a>). The patient with the E646K mutation had a very mild phenotype, with asymptomatic increased serum creatine kinase. In a third family, the affected mother was heterozygous for a T89M (<a href="/entry/608442#0001">608442.0001</a>) mutation in the SYNE2 gene, consistent with EDMD5 (<a href="/entry/612999">612999</a>). Her affected son was compound heterozygous for the T89M mutation and a variant (V572L; <a href="/entry/608441#0009">608441.0009</a>) in the SYNE1 gene, which was also identified in heterozygosity in the unaffected father, casting some doubt on the pathogenicity of the V572L variant. <a href="#1" 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. &lt;strong&gt;Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.&lt;/strong&gt; Hum. Molec. Genet. 16: 2816-2833, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17761684/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17761684&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm238&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17761684">Zhang et al. (2007)</a> postulated a dominant-negative effect of the SYNE mutations, with the possibility of more severe manifestations in the compound heterozygote. <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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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
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<a id="1" class="mim-anchor"></a>
<a id="Zhang2007" class="mim-anchor"></a>
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<p class="mim-text-font">
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://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>]
[<a href="https://doi.org/10.1093/hmg/ddm238" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
George E. Tiller - updated : 6/16/2010
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin : 9/1/2009
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
carol : 07/11/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
carol : 07/11/2019<br>ckniffin : 07/01/2019<br>carol : 03/21/2011<br>carol : 6/16/2010<br>wwang : 9/9/2009<br>ckniffin : 9/2/2009
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<h3>
<span class="mim-font">
<strong>#</strong> 612998
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<h3>
<span class="mim-font">
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
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<span class="mim-text-font">
<strong>ORPHA:</strong> 261, 98853; &nbsp;
<strong>DO:</strong> 0070249; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<tr class="active">
<th>
Location
</th>
<th>
Phenotype
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<th>
Phenotype <br /> MIM number
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Inheritance
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<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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</thead>
<tbody>
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<td>
<span class="mim-font">
6q25.2
</span>
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<td>
<span class="mim-font">
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
</span>
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<td>
<span class="mim-font">
612998
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
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<span class="mim-font">
3
</span>
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SYNE1
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608441
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<p>A number sign (#) is used with this entry because of evidence that Emery-Dreifuss muscular dystrophy-4 (EDMD4) is caused by heterozygous mutation in the SYNE1 gene (608441) on chromosome 6q25.</p><p>For a discussion of genetic heterogeneity of EDMD, see 310300.</p>
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<strong>Clinical Features</strong>
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<p>Zhang et al. (2007) reported a man with onset of a slowly progressive muscular dystrophy from age 11 years. The disorder was characterized by weakness and atrophy of the neck and shoulder girdle muscles with progressive development of limb contractures. There was no apparent cardiac involvement. EMG showed a myopathic pattern, and biopsy showed dystrophic changes. Creatine kinase was mildly elevated. He became wheelchair-bound at age 26 years. The authors reported a second unrelated patient was found incidentally to have an increased serum creatine kinase level at age 47 years. Cardiac work-up showed slight left ventricular basal and septal hypertrophy with mild diastolic dysfunction. There were no neuromuscular symptoms other than intermittent minor weakness of the left arm muscles. </p>
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<strong>Pathogenesis</strong>
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<p>Skin fibroblasts from EDMD patients with SYNE1 mutations showed similar defects in nuclear morphology as those described in patients with EDMD due to LMNA (150330) and emerin (EMD; 300384) mutations. SYNE1 and SYNE2 (608442) 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 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>Molecular Genetics</strong>
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<p>In 2 unrelated probands with EDMD4, Zhang et al. (2007) identified 2 different heterozygous mutations in the SYNE1 gene (R257H, 608441.0008 and E646K, 608441.0010). The patient with the E646K mutation had a very mild phenotype, with asymptomatic increased serum creatine kinase. In a third family, the affected mother was heterozygous for a T89M (608442.0001) mutation in the SYNE2 gene, consistent with EDMD5 (612999). Her affected son was compound heterozygous for the T89M mutation and a variant (V572L; 608441.0009) in the SYNE1 gene, which was also identified in heterozygosity in the unaffected father, casting some doubt on the pathogenicity of the V572L variant. Zhang et al. (2007) postulated a dominant-negative effect of the SYNE mutations, with the possibility of more severe manifestations in the compound heterozygote. </p>
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<strong>REFERENCES</strong>
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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.
[PubMed: 17761684]
[Full Text: https://doi.org/10.1093/hmg/ddm238]
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George E. Tiller - updated : 6/16/2010
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Cassandra L. Kniffin : 9/1/2009
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carol : 07/11/2019<br>carol : 07/11/2019<br>ckniffin : 07/01/2019<br>carol : 03/21/2011<br>carol : 6/16/2010<br>wwang : 9/9/2009<br>ckniffin : 9/2/2009
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