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<title>
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Entry
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- #601154 - CARDIOMYOPATHY, DILATED, 1E; CMD1E
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- OMIM
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<span class="h4">#601154</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS115200"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<div><a href="https://clinicaltrials.gov/search?cond=(CARDIOMYOPATHY, DILATED) OR (SCN5A)" 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><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=635&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1309/" 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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=154" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110433" 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/601154" 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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<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>ORPHA:</strong> 154<br />
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<strong>DO:</strong> 0110433<br />
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">ICD+</a>
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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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601154
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CARDIOMYOPATHY, DILATED, 1E; CMD1E
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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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>
|
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<span class="mim-font">
|
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CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA<br />
|
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CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CDCD2
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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|
<tr class="active">
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<th>
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Location
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</th>
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<th>
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|
Phenotype
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
|
</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
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|
<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/3/181?start=-3&limit=10&highlight=181">
|
|
3p22.2
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Cardiomyopathy, dilated, 1E
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/601154"> 601154 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
SCN5A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600163"> 600163 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
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</tbody>
|
|
</table>
|
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</div>
|
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</div>
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/601154" 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/PS115200" 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/601154" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601154" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
<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> 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">
|
|
|
|
- Palpitations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br /> -
|
|
Syncope <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3541349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3541349</a>, <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>]</span><br /> -
|
|
Dilated cardiomyopathy (in some patients) <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 /> -
|
|
Left ventricular enlargement <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55827005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55827005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149721</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001712</a>]</span><br /> -
|
|
Reduced systolic function (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025008</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006673</a>]</span><br /> -
|
|
Sinus node dysfunction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60423000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60423000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428908</a>]</span><br /> -
|
|
Conduction system defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551301</a>]</span><br /> -
|
|
Conduction delay <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1398354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1398354</a>]</span><br /> -
|
|
Right bundle branch block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164907000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164907000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59118001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59118001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/426.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344421</a>, <a href="https://bioportal.bioontology.org/search?q=C0085615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085615</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011712</a>]</span><br /> -
|
|
Left bundle branch block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164909002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164909002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63467002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63467002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2828132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2828132</a>, <a href="https://bioportal.bioontology.org/search?q=C0344420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344420</a>, <a href="https://bioportal.bioontology.org/search?q=C0023211&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023211</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011713</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011713</a>]</span><br /> -
|
|
Supraventricular tachyarrhythmias <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1698480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1698480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004755" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004755</a>]</span><br /> -
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Atrial standstill <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/450919004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">450919004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5609005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5609005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541782&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541782</a>, <a href="https://bioportal.bioontology.org/search?q=C1838539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838539</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025478</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025478</a>]</span><br /> -
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Atrial fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49436004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49436004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164889003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164889003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926591</a>, <a href="https://bioportal.bioontology.org/search?q=C0004238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004238</a>, <a href="https://bioportal.bioontology.org/search?q=C0344434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span><br /> -
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Atrial flutter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5370000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5370000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164890007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164890007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004239</a>, <a href="https://bioportal.bioontology.org/search?q=C0344423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004749</a>]</span><br /> -
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Atrioventricular block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233917008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233917008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/426.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001678</a>]</span><br /> -
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Premature atrial contractions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63593006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63593006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406461004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406461004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/287057009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">287057009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/284470004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">284470004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033036&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033036</a>, <a href="https://bioportal.bioontology.org/search?q=C0488348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0488348</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006699</a>]</span><br /> -
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Premature ventricular contractions (with variable morphologies some arising from Purkinje fibers) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251175005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251175005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151636</a>, <a href="https://bioportal.bioontology.org/search?q=C0488307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0488307</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006682" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006682</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006682" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006682</a>]</span><br /> -
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Junctional escape ventricular capture bigeminy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551303</a>]</span><br />
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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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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Patients may require implantable cardioverter defibrillators<br /> -
|
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May result in sudden death<br />
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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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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the alpha subunit of the type V voltage-gated sodium channel gene (SCN5A, <a href="/entry/600163#0034">600163.0034</a>)<br />
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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 class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Dilated cardiomyopathy
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- <a href="/phenotypicSeries/PS115200">PS115200</a>
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- 60 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/1/75?start=-3&limit=10&highlight=75"> 1p36.32 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615373"> Left ventricular noncompaction 8 </a>
|
|
</span>
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615373"> 615373 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605557"> PRDM16 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605557"> 605557 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
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<a href="/geneMap/1/75?start=-3&limit=10&highlight=75"> 1p36.32 </a>
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615373"> Cardiomyopathy, dilated, 1LL </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615373"> 615373 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/605557"> PRDM16 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/605557"> 605557 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
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<a href="/geneMap/1/506?start=-3&limit=10&highlight=506"> 1p34.2 </a>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/618189"> Cardiomyopathy, dilated, 2C </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
<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/618189"> 618189 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609853"> PPCS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609853"> 609853 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/739?start=-3&limit=10&highlight=739"> 1p31.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613122"> Cardiomyopathy, dilated, 1CC </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613122"> 613122 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613121"> NEXN </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613121"> 613121 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/115200"> Cardiomyopathy, dilated, 1A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/115200"> 115200 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/150330"> LMNA </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/150330"> 150330 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1563?start=-3&limit=10&highlight=1563"> 1q32.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601494"> Cardiomyopathy, dilated, 1D </a>
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</span>
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</td>
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<td>
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|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601494"> 601494 </a>
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</span>
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</td>
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<td>
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|
<span class="mim-font">
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<a href="/entry/191045"> TNNT2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/191045"> 191045 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1563?start=-3&limit=10&highlight=1563"> 1q32.1 </a>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/601494"> Left ventricular noncompaction 6 </a>
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</span>
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</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/601494"> 601494 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191045"> TNNT2 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191045"> 191045 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
<a href="/geneMap/1/1763?start=-3&limit=10&highlight=1763"> 1q42.13 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/613697"> Cardiomyopathy, dilated, 1V </a>
|
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</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/613697"> 613697 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600759"> PSEN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600759"> 600759 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612158"> Cardiomyopathy, dilated, 1AA, with or without LVNC </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/612158"> 612158 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> ACTN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> 102573 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612158"> Cardiomyopathy, hypertrophic, 23, with or without LVNC </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/612158"> 612158 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> ACTN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> 102573 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/566?start=-3&limit=10&highlight=566"> 2q14-q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604288"> Cardiomyopathy, dilated, 1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604288"> 604288 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604288"> CMD1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604288"> 604288 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604145"> Cardiomyopathy, dilated, 1G </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/604145"> 604145 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> TTN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> 188840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604765"> Cardiomyopathy, dilated, 1I </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/604765"> 604765 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125660"> DES </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125660"> 125660 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/70?start=-3&limit=10&highlight=70"> 3p25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615916"> Cardiomyopathy, dilated, 1NN </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/615916"> 615916 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164760"> RAF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164760"> 164760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601154"> Cardiomyopathy, dilated, 1E </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/601154"> 601154 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600163"> SCN5A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600163"> 600163 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/377?start=-3&limit=10&highlight=377"> 3p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611879"> Cardiomyopathy, dilated, 1Z </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/611879"> 611879 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191040"> TNNC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191040"> 191040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/9?start=-3&limit=10&highlight=9"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/613642"> Cardiomyopathy, dilated, 1GG </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/613642"> 613642 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600857"> SDHA </a>
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</span>
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<span class="mim-font">
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<a href="/entry/600857"> 600857 </a>
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<td>
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<span class="mim-font">
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<a href="/geneMap/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606685"> Cardiomyopathy, dilated, 1L </a>
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<span class="mim-font">
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606685"> 606685 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601411"> SGCD </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601411"> 601411 </a>
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</span>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/92?start=-3&limit=10&highlight=92"> 6p22.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620462"> Cardiomyopathy, dilated, 2I </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620462"> 620462 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618385"> CAP2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618385"> 618385 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/621?start=-3&limit=10&highlight=621"> 6q12-q16 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605582"> Cardiomyopathy, dilated, 1K </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605582"> 605582 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605582"> CMD1K </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605582"> 605582 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/786?start=-3&limit=10&highlight=786"> 6q21 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615235"> Cardiomyopathy, dilated, 1JJ </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
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</td>
|
|
<td>
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615235"> 615235 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600133"> LAMA4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600133"> 600133 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/815?start=-3&limit=10&highlight=815"> 6q22.31 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609909"> Cardiomyopathy, dilated, 1P </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609909"> 609909 </a>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/172405"> PLN </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/172405"> 172405 </a>
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
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|
|
<a href="/geneMap/6/874?start=-3&limit=10&highlight=874"> 6q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605362"> ?Cardiomyopathy, dilated, 1J </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/605362"> 605362 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603550"> EYA4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603550"> 603550 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/408?start=-3&limit=10&highlight=408"> 7q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614672"> ?Cardiomyopathy, dilated, 2B </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/614672"> 614672 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614518"> GATAD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614518"> 614518 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/562?start=-3&limit=10&highlight=562"> 7q22.3-q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609915"> Cardiomyopathy, dilated, 1Q </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609915"> 609915 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609915"> CMD1Q </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609915"> 609915 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/630?start=-3&limit=10&highlight=630"> 7q31.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619897"> Cardiomyopathy, dilated, 2G </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/619897"> 619897 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608006"> LMOD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608006"> 608006 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/213?start=-3&limit=10&highlight=213"> 9q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600884"> Cardiomyopathy, dilated 1B </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600884"> 600884 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600884"> CMD1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600884"> 600884 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611615"> Cardiomyopathy, dilated, 1X </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/611615"> 611615 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607440"> FKTN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607440"> 607440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615248"> Cardiomyopathy, dilated, 1KK </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/615248"> 615248 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608517"> MYPN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608517"> 608517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615248"> Cardiomyopathy, familial restrictive, 4 </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>
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<td>
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<span class="mim-font">
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<a href="/entry/615248"> 615248 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/608517"> MYPN </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608517"> 608517 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
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|
</span>
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|
</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615248"> Cardiomyopathy, hypertrophic, 22 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615248"> 615248 </a>
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</span>
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</td>
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<td>
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|
<span class="mim-font">
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|
<a href="/entry/608517"> MYPN </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<a href="/entry/608517"> 608517 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/10/312?start=-3&limit=10&highlight=312"> 10q22.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611407"> Cardiomyopathy, dilated, 1W </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611407"> 611407 </a>
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</span>
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</td>
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/193065"> VCL </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/193065"> 193065 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601493"> Cardiomyopathy, dilated, 1C, with or without LVNC </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/601493"> 601493 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605906"> LDB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605906"> 605906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601493"> Cardiomyopathy, hypertrophic, 24 </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/601493"> 601493 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605906"> LDB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605906"> 605906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601493"> Left ventricular noncompaction 3 </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/601493"> 601493 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605906"> LDB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605906"> 605906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/560?start=-3&limit=10&highlight=560"> 10q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613172"> Cardiomyopathy, dilated, 1DD </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/613172"> 613172 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613171"> RBM20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613171"> 613171 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613881"> Cardiomyopathy, dilated, 1HH </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/613881"> 613881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603883"> BAG3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603883"> 603883 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/233?start=-3&limit=10&highlight=233"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607482"> ?Cardiomyopathy, dilated, 1M </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/607482"> 607482 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600824"> CSRP3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600824"> 600824 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/361?start=-3&limit=10&highlight=361"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615396"> Left ventricular noncompaction 10 </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/615396"> 615396 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600958"> MYBPC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600958"> 600958 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/361?start=-3&limit=10&highlight=361"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615396"> Cardiomyopathy, dilated, 1MM </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/615396"> 615396 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600958"> MYBPC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600958"> 600958 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615184"> Cardiomyopathy, dilated, 1II </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/615184"> 615184 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123590"> CRYAB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123590"> 123590 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/230?start=-3&limit=10&highlight=230"> 12p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608569"> Cardiomyopathy, dilated, 1O </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/608569"> 608569 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601439"> ABCC9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601439"> 601439 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/90?start=-3&limit=10&highlight=90"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613252"> Cardiomyopathy, dilated, 1EE </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/613252"> 613252 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160710"> MYH6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160710"> 160710 </a>
|
|
</span>
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
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|
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|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/613426"> Cardiomyopathy, dilated, 1S </a>
|
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</span>
|
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</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/613426"> 613426 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> MYH7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> 160760 </a>
|
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</span>
|
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</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613426"> Left ventricular noncompaction 5 </a>
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|
</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/613426"> 613426 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> MYH7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> 160760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/361?start=-3&limit=10&highlight=361"> 14q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613694"> ?Cardiomyopathy, dilated, 1U </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/613694"> 613694 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104311"> PSEN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104311"> 104311 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/577?start=-3&limit=10&highlight=577"> 14q32.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619747"> Cardiomyopathy, dilated, 2F </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/619747"> 619747 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603885"> BAG5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603885"> 603885 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613424"> Cardiomyopathy, dilated, 1R </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/613424"> 613424 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102540"> ACTC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102540"> 102540 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613424"> Left ventricular noncompaction 4 </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/613424"> 613424 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102540"> ACTC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102540"> 102540 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/269?start=-3&limit=10&highlight=269"> 15q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611878"> Left ventricular noncompaction 9 </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/611878"> 611878 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191010"> TPM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191010"> 191010 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/269?start=-3&limit=10&highlight=269"> 15q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611878"> Cardiomyopathy, dilated, 1Y </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/611878"> 611878 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191010"> TPM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191010"> 191010 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/82?start=-3&limit=10&highlight=82"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619371"> Cardiomyopathy, dilated, 2D </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/619371"> 619371 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617416"> RPL3L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617416"> 617416 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/281?start=-3&limit=10&highlight=281"> 17p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620635"> Cardiomyopathy, dilated, 2J </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/620635"> 620635 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600362"> FLII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600362"> 600362 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/777?start=-3&limit=10&highlight=777"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620247"> ?Cardiomyopathy, dilated, 1OO </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/620247"> 620247 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606747"> VEZF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606747"> 606747 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/118?start=-3&limit=10&highlight=118"> 18q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612877"> Cardiomyopathy, dilated, 1BB </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/612877"> 612877 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125671"> DSG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125671"> 125671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/332?start=-3&limit=10&highlight=332"> 19p13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620203"> ?Cardiomyopathy, dilated, 2H </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/620203"> 620203 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601913"> GET3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601913"> 601913 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1E (CMD1E) is caused by heterozygous mutation in the cardiac sodium channel gene SCN5A (<a href="/entry/600163">600163</a>) on chromosome 3p22.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (<a href="/entry/115200">115200</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Greenlee, P. R., Anderson, J. L., Lutz, J. R., Lindsay, A. E., Hagan, A. D. <strong>Familial automaticity-conduction disorder with associated cardiomyopathy.</strong> West. J. Med. 144: 33-41, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3953067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3953067</a>]" pmid="3953067">Greenlee et al. (1986)</a> reported a large 4-generation family (family V) of German and Swiss ancestry with dilated cardiomyopathy, conduction defect, and arrhythmia. The phenotype included sinus node dysfunction in adolescence, supraventricular tachyarrhythmia, and progressive atrial ventricular and intraventricular conduction delay that led to permanent pacing in most cases. The phenotype was also characterized by a progression toward atrial dilation, frequently followed by right ventricular dilation and, in some cases, led to ventricular dilation and dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3953067" 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="Cheng, J., Morales, A., Siegfried, J. D., Li, D., Norton, N., Song, J., Gonzalez-Quintana, J., Makielski, J. C., Hershberger, R. E. <strong>SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.</strong> Clin. Transl. Sci. 3: 287-294, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21167004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21167004</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21167004[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1752-8062.2010.00249.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21167004">Cheng et al. (2010)</a> described 2 families with dilated cardiomyopathy (CMD) and arrhythmias. Pedigree A was a non-Hispanic white family, previously studied by <a href="#5" class="mim-tip-reference" title="Hershberger, R. E., Parks, S. B., Kushner, J. D., Li, D., Ludwigsen, S., Jakobs, P., Nauman, D., Burgess, D., Partain, J., Litt, M. <strong>Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3 (sic), and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.</strong> Clin. Transl. Sci. 1: 21-26, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19412328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19412328</a>] [<a href="https://doi.org/10.1111/j.1752-8062.2008.00017.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19412328">Hershberger et al. (2008)</a> (family C.3), with early-onset CMD occurring at approximately 29 years of age and prominent conduction system disease. The proband and his 2 affected sibs required implantable cardiac defibrillators (ICDs) at ages 32, 31, and 23 years, respectively. The proband's son had asymptomatic premature ventricular complexes (PVCs) detected during screening at 10 years of age and was diagnosed with CMD at age 17. Pedigree B was an African American family with CMD, also previously studied by <a href="#5" class="mim-tip-reference" title="Hershberger, R. E., Parks, S. B., Kushner, J. D., Li, D., Ludwigsen, S., Jakobs, P., Nauman, D., Burgess, D., Partain, J., Litt, M. <strong>Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3 (sic), and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.</strong> Clin. Transl. Sci. 1: 21-26, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19412328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19412328</a>] [<a href="https://doi.org/10.1111/j.1752-8062.2008.00017.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19412328">Hershberger et al. (2008)</a> (family C.7), in which the asymptomatic proband was diagnosed with CMD at 31 years of age after a screening echocardiogram showed left ventricular enlargement and low-normal ejection fraction. At 37 years of age, he developed symptoms of heart failure, with a 15-mm increase in left ventricular end-diastolic size and an ejection fraction that had decreased to 10%. An ICD was placed 1 year later, and he died suddenly at 42 years of age. His mother, who had a history of conduction system disease, was diagnosed with CMD at age 53 and died 5 years later of 'sudden cardiac death and arrhythmia,' according to her death certificate. His 72-year-old maternal aunt had cardiac arrhythmias including atrial fibrillation, first-degree atrioventricular block, and premature atrial contractions (PACs); she had an ejection fraction of 65% with left ventricular enlargement and tachyarrhythmias, but was not diagnosed with CMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21167004+19412328" 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="Laurent, G., Saal, S., Amarouch, M. Y., Beziau, D. M., Marsman, R. F. J., Faivre, L., Barc, J., Dina, C., Bertaux, G., Barthez, O., Thauvin-Robinet, C., Charron, P., and 15 others. <strong>Multifocal ectopic Purkinje-related premature contractions.</strong> J. Am. Coll. Cardiol. 60: 144-156, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22766342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22766342</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.02.052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22766342">Laurent et al. (2012)</a> studied 21 affected individuals from 3 unrelated 3-generation families with multifocal ectopic Purkinje-related premature contractions and CMD. Age at diagnosis ranged from 24 weeks of gestation to 62 years (mean age, 20 years). Symptoms included palpitations, dyspnea, and syncope. Patients exhibited paroxysmal atrial arrhythmia, atrial flutter, and atrial fibrillation, as well as PVC rates ranging from 3,500 to 86,000 per 24-hour period. Six patients were diagnosed with CMD, and 4 patients required placement of ICDs. Sudden death was reported in 5 individuals. The electrocardiographic phenotype was remarkably consistent, with narrow sinus and junctional QRS complexes competing with various complexes showing an RBBB or LBBB pattern, corresponding to PVCs with superior or inferior axes. There was no QT prolongation or ST segment elevation. Electrophysiologic studies demonstrated that the PVCs originated from the Purkinje tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22766342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Mann, S. A., Castro, M. L., Ohanian, M., Guo, G., Zodgekar, P., Sheu, A., Stockhammer, K., Thompson, T., Playford, D., Subbiah, R., Kuchar, D., Aggarwal, A., Vandenberg, J. I., Fatkin, D. <strong>R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.</strong> J. Am. Coll. Cardiol. 60: 1566-1573, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22999724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22999724</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.05.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22999724">Mann et al. (2012)</a> studied a large kindred with CMD and multiple arrhythmias, including PVCs of variable morphologies. A striking feature of the EKG tracings from affected family members was the relative paucity of normally conducted sinus beats, with the majority of beats being PVCs, including narrow PVCs of probably high septal origin that had varying morphology and axis, as well as wide PVCs of left and right bundle branch type. PACs and accelerated junctional rhythms were also seen. Of the 16 affected individuals, 6 had documented atrial fibrillation, and 3 received pacemakers for symptomatic bradycardia or complete heart block in later life. Electrophysiologic studies done in 4 individuals uniformly showed multiple PVC foci in the left and right ventricles, with no inducible ventricular arrhythmias. Five patients had prophylactic placement of ICDs. Eight individuals had a diagnosis of CMD, including 2 asymptomatic young men who were diagnosed only as a result of family screening; in all other cases, the diagnosis was preceded by a history of palpitations. CMD was present in 7 of 9 affected males but in only 1 of 7 affected females. There was 1 clinically unaffected mutation carrier in this family (see MOLECULAR GENETICS), a 56-year-old man with a normal EKG and echocardiogram. <a href="#7" class="mim-tip-reference" title="Mann, S. A., Castro, M. L., Ohanian, M., Guo, G., Zodgekar, P., Sheu, A., Stockhammer, K., Thompson, T., Playford, D., Subbiah, R., Kuchar, D., Aggarwal, A., Vandenberg, J. I., Fatkin, D. <strong>R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.</strong> J. Am. Coll. Cardiol. 60: 1566-1573, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22999724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22999724</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.05.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22999724">Mann et al. (2012)</a> noted that affected family members who had shown little or no benefit from standard heart failure therapy who, after genetic diagnosis, were switched to drugs with sodium channel-blocking properties, exhibited dramatic reductions in numbers of PVCs, with recovery of normal left ventricular function over approximately 6 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22999724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Olson, T. M., Keating, M. T. <strong>Mapping a cardiomyopathy locus to chromosome 3p22-p25.</strong> J. Clin. Invest. 97: 528-532, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8567977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8567977</a>] [<a href="https://doi.org/10.1172/JCI118445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8567977">Olson and Keating (1996)</a> studied the family (family V; kindred 1500) reported by <a href="#2" class="mim-tip-reference" title="Greenlee, P. R., Anderson, J. L., Lutz, J. R., Lindsay, A. E., Hagan, A. D. <strong>Familial automaticity-conduction disorder with associated cardiomyopathy.</strong> West. J. Med. 144: 33-41, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3953067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3953067</a>]" pmid="3953067">Greenlee et al. (1986)</a> with dilated cardiomyopathy associated with sinus node dysfunction, supraventricular tachyarrhythmias, conduction delay, and stroke. Linkage to D3S2303 was identified with a 2-point lod score of 6.09 at a recombination fraction of 0.00. Haplotype analyses mapped this locus to a 30-cM region of 3p25-p22, excluding candidate genes encoding a G protein, GNAI2 (<a href="/entry/139360">139360</a>), a calcium channel, CACNL1A2 (<a href="/entry/114206">114206</a>), a sodium channel, SCN5A (<a href="/entry/600163">600163</a>), and an inositol-triphosphate receptor, ITPR1 (<a href="/entry/147265">147265</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3953067+8567977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CMD1E in family V reported by <a href="#2" class="mim-tip-reference" title="Greenlee, P. R., Anderson, J. L., Lutz, J. R., Lindsay, A. E., Hagan, A. D. <strong>Familial automaticity-conduction disorder with associated cardiomyopathy.</strong> West. J. Med. 144: 33-41, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3953067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3953067</a>]" pmid="3953067">Greenlee et al. (1986)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3953067" 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 the family (family V) with dilated cardiomyopathy reported by <a href="#2" class="mim-tip-reference" title="Greenlee, P. R., Anderson, J. L., Lutz, J. R., Lindsay, A. E., Hagan, A. D. <strong>Familial automaticity-conduction disorder with associated cardiomyopathy.</strong> West. J. Med. 144: 33-41, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3953067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3953067</a>]" pmid="3953067">Greenlee et al. (1986)</a>, <a href="#8" class="mim-tip-reference" title="McNair, W. P., Ku, L., Taylor, M. R. G., Fain, P. R., Dao, D., Wolfel, E., Mestroni, L., Familial Cardiomyopathy Registry Research Group. <strong>SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.</strong> Circulation 110: 2163-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15466643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15466643</a>] [<a href="https://doi.org/10.1161/01.CIR.0000144458.58660.BB" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15466643">McNair et al. (2004)</a> identified heterozygosity for an asp1275-to-asn mutation (D1275N; <a href="/entry/600163#0034">600163.0034</a>) in the SCN5A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3953067+15466643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> had found the same D1275N mutation, coinherited with polymorphisms in the atrial-specific junction channel protein connexin-40 (GJA5; <a href="/entry/121013">121013</a>), in a family with atrial standstill (ATRST1; <a href="/entry/108770">108770</a>). None of the affected members in this family had dilated cardiomyopathy, leading <a href="#4" class="mim-tip-reference" title="Groenewegen, W. A., Wilde, A. A. M. <strong>Letter regarding article by McNair et al, 'SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia'. (Letter)</strong> Circulation 112: e9, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998690</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.531475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998690">Groenewegen and Wilde (2005)</a> to question the relationship of the SCN5A mutation to dilated cardiomyopathy in the family reported by <a href="#8" class="mim-tip-reference" title="McNair, W. P., Ku, L., Taylor, M. R. G., Fain, P. R., Dao, D., Wolfel, E., Mestroni, L., Familial Cardiomyopathy Registry Research Group. <strong>SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.</strong> Circulation 110: 2163-2167, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15466643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15466643</a>] [<a href="https://doi.org/10.1161/01.CIR.0000144458.58660.BB" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15466643">McNair et al. (2004)</a>. <a href="#9" class="mim-tip-reference" title="McNair, W. P., Ku, L., Taylor, M. R. G., Fain, P. R., Wolfel, E., Mestroni, L. <strong>Response to letter regarding article by McNair et al., 'SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia'. (Letter)</strong> Circulation 112: e9, 2005. Note: Electronic Article."None>McNair et al. (2005)</a> responded that the younger age of the affected members studied by <a href="#3" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> as well as additional genetic or environmental factors may account for the difference between the 2 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12522116+15998690+15466643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Olson, T. M., Michels, V. V., Ballew, J. D., Reyna, S. P., Karst, M. L., Herron, K. I., Horton, S. C., Rodeheffer, R. J., Anderson, J. L. <strong>Sodium channel mutations and susceptibility of heart failure and atrial fibrillation.</strong> JAMA 293: 447-454, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15671429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1001/jama.293.4.447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671429">Olson et al. (2005)</a> analyzed the SCN5A gene in 156 unrelated patients with dilated cardiomyopathy who were negative for mutations in several known CMD genes and identified 5 different heterozygous mutations in 4 probands from multigenerational families segregating CMD and cardiac arrhythmias and in 1 patient with a de novo mutation (see, e.g., <a href="/entry/600163#0027">600163.0027</a>, <a href="/entry/600163#0038">600163.0038</a>-<a href="/entry/600163#0039">600163.0039</a>). All of the mutations altered highly conserved residues in the transmembrane domains of SCN5A, and each was found to segregate with disease in the respective family. Among individuals with an SCN5A mutation, 27% had early features of CMD, 38% had CMD, and 43% had atrial fibrillation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671429" 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 2 unrelated families with CMD and conduction system disease, <a href="#5" class="mim-tip-reference" title="Hershberger, R. E., Parks, S. B., Kushner, J. D., Li, D., Ludwigsen, S., Jakobs, P., Nauman, D., Burgess, D., Partain, J., Litt, M. <strong>Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3 (sic), and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.</strong> Clin. Transl. Sci. 1: 21-26, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19412328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19412328</a>] [<a href="https://doi.org/10.1111/j.1752-8062.2008.00017.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19412328">Hershberger et al. (2008)</a> identified heterozygosity for 2 different missense mutations in the SCN5A gene, R222Q (<a href="/entry/600163#0046">600163.0046</a>) and I1835T (<a href="/entry/600163#0047">600163.0047</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19412328" 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 3 unrelated families with multifocal ectopic Purkinje-related premature contractions and dilated cardiomyopathy, <a href="#6" class="mim-tip-reference" title="Laurent, G., Saal, S., Amarouch, M. Y., Beziau, D. M., Marsman, R. F. J., Faivre, L., Barc, J., Dina, C., Bertaux, G., Barthez, O., Thauvin-Robinet, C., Charron, P., and 15 others. <strong>Multifocal ectopic Purkinje-related premature contractions.</strong> J. Am. Coll. Cardiol. 60: 144-156, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22766342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22766342</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.02.052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22766342">Laurent et al. (2012)</a> identified heterozygosity for the R222Q mutation in the SCN5A gene, which was fully penetrant and strictly segregated with the cardiac phenotype in each family. The mutation was not found in 600 control chromosomes, and haplotype analysis showed that a founder effect for these 3 families was very unlikely. In vitro studies recapitulated the normalization of the ventricular action potentials in the presence of quinidine. Because only 6 of the 19 patients carrying the R222Q mutation had CMD, and the cardiomyopathy recovered at least partially with antiarrhythmia treatment and a reduction in the number of premature ventricular contractions, <a href="#6" class="mim-tip-reference" title="Laurent, G., Saal, S., Amarouch, M. Y., Beziau, D. M., Marsman, R. F. J., Faivre, L., Barc, J., Dina, C., Bertaux, G., Barthez, O., Thauvin-Robinet, C., Charron, P., and 15 others. <strong>Multifocal ectopic Purkinje-related premature contractions.</strong> J. Am. Coll. Cardiol. 60: 144-156, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22766342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22766342</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.02.052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22766342">Laurent et al. (2012)</a> suggested that CMD might be a consequence of the arrhythmia and not directly linked to the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22766342" 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 3-generation Canadian family with CMD and junctional escape ventricular capture bigeminy, <a href="#10" class="mim-tip-reference" title="Nair, K., Pekhletski, R., Harris, L., Care, M., Morel, C., Farid, T., Backx, P. H., Szabo, E., Nanthakumar, K. <strong>Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.</strong> Heart Rhythm 9: 1681-1688, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22710484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22710484</a>] [<a href="https://doi.org/10.1016/j.hrthm.2012.06.029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22710484">Nair et al. (2012)</a> identified the R222Q mutation in the SCN5A gene. All 6 patients had cardiac arrhythmias and 5 had left ventricular dysfunction, which was mild in 1 individual; the proband's brother, who carried the mutation, had only an ectopic atrial rhythm with normal left ventricular systolic function. Catheterization and mapping revealed that there was no consistent evidence of bundle branch reentry or fascicular potentials preceding ectopic beats, and there was no single site suitable for ablation. The results were consistent with the triggered activity originating from variable regions of the septum, most likely the left fascicle or possibly Purkinje muscle junctions and transitional cells. The bigeminy was suppressed by intravenous administration of the sodium channel blocker lidocaine. Patch-clamp studies demonstrated differential leftward voltage-dependent shifts in activation and inactivation of mutant channels, consistent with increasing channel excitability at precisely the voltages corresponding to the resting membrane potential of cardiomyocytes. <a href="#10" class="mim-tip-reference" title="Nair, K., Pekhletski, R., Harris, L., Care, M., Morel, C., Farid, T., Backx, P. H., Szabo, E., Nanthakumar, K. <strong>Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.</strong> Heart Rhythm 9: 1681-1688, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22710484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22710484</a>] [<a href="https://doi.org/10.1016/j.hrthm.2012.06.029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22710484">Nair et al. (2012)</a> stated that their results supported the notion that patients harboring the R222Q mutation develop cardiomyopathy as a result of the arrhythmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22710484" 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 16 affected members over 3 generations of a large kindred with CMD and multiple arrhythmias, including PVCs of variable morphologies, <a href="#7" class="mim-tip-reference" title="Mann, S. A., Castro, M. L., Ohanian, M., Guo, G., Zodgekar, P., Sheu, A., Stockhammer, K., Thompson, T., Playford, D., Subbiah, R., Kuchar, D., Aggarwal, A., Vandenberg, J. I., Fatkin, D. <strong>R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.</strong> J. Am. Coll. Cardiol. 60: 1566-1573, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22999724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22999724</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.05.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22999724">Mann et al. (2012)</a> identified heterozygosity for the R222Q mutation in the SCN5A gene. The mutation was also identified in 1 clinically unaffected family member, a 56-year-old man with a normal EKG and echocardiogram, but was not found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22999724" 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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Cheng, J., Morales, A., Siegfried, J. D., Li, D., Norton, N., Song, J., Gonzalez-Quintana, J., Makielski, J. C., Hershberger, R. E.
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<strong>SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.</strong>
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Clin. Transl. Sci. 3: 287-294, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21167004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21167004</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21167004[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21167004" 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.1752-8062.2010.00249.x" target="_blank">Full Text</a>]
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<strong>Familial automaticity-conduction disorder with associated cardiomyopathy.</strong>
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West. J. Med. 144: 33-41, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3953067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3953067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3953067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A.
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<strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong>
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Circ. Res. 92: 14-22, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522116" 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/10.1161/01.res.0000050585.07097.d7" target="_blank">Full Text</a>]
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<strong>Letter regarding article by McNair et al, 'SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia'. (Letter)</strong>
|
|
Circulation 112: e9, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998690" 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/10.1161/CIRCULATIONAHA.104.531475" target="_blank">Full Text</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="5" class="mim-anchor"></a>
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<a id="Hershberger2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hershberger, R. E., Parks, S. B., Kushner, J. D., Li, D., Ludwigsen, S., Jakobs, P., Nauman, D., Burgess, D., Partain, J., Litt, M.
|
|
<strong>Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3 (sic), and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.</strong>
|
|
Clin. Transl. Sci. 1: 21-26, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19412328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19412328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19412328" 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.1752-8062.2008.00017.x" target="_blank">Full Text</a>]
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Laurent2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Laurent, G., Saal, S., Amarouch, M. Y., Beziau, D. M., Marsman, R. F. J., Faivre, L., Barc, J., Dina, C., Bertaux, G., Barthez, O., Thauvin-Robinet, C., Charron, P., and 15 others.
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<strong>Multifocal ectopic Purkinje-related premature contractions.</strong>
|
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J. Am. Coll. Cardiol. 60: 144-156, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22766342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22766342</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22766342" 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.jacc.2012.02.052" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Mann2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mann, S. A., Castro, M. L., Ohanian, M., Guo, G., Zodgekar, P., Sheu, A., Stockhammer, K., Thompson, T., Playford, D., Subbiah, R., Kuchar, D., Aggarwal, A., Vandenberg, J. I., Fatkin, D.
|
|
<strong>R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.</strong>
|
|
J. Am. Coll. Cardiol. 60: 1566-1573, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22999724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22999724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22999724" 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.jacc.2012.05.050" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="McNair2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McNair, W. P., Ku, L., Taylor, M. R. G., Fain, P. R., Dao, D., Wolfel, E., Mestroni, L., Familial Cardiomyopathy Registry Research Group.
|
|
<strong>SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.</strong>
|
|
Circulation 110: 2163-2167, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15466643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15466643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15466643" 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/10.1161/01.CIR.0000144458.58660.BB" 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="9" class="mim-anchor"></a>
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<a id="McNair2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McNair, W. P., Ku, L., Taylor, M. R. G., Fain, P. R., Wolfel, E., Mestroni, L.
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<strong>Response to letter regarding article by McNair et al., 'SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia'. (Letter)</strong>
|
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Circulation 112: e9, 2005. Note: Electronic Article.
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Nair2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nair, K., Pekhletski, R., Harris, L., Care, M., Morel, C., Farid, T., Backx, P. H., Szabo, E., Nanthakumar, K.
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<strong>Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.</strong>
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Heart Rhythm 9: 1681-1688, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22710484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22710484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22710484" 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.hrthm.2012.06.029" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Olson1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olson, T. M., Keating, M. T.
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<strong>Mapping a cardiomyopathy locus to chromosome 3p22-p25.</strong>
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J. Clin. Invest. 97: 528-532, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8567977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8567977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8567977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI118445" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Olson2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olson, T. M., Michels, V. V., Ballew, J. D., Reyna, S. P., Karst, M. L., Herron, K. I., Horton, S. C., Rodeheffer, R. J., Anderson, J. L.
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<strong>Sodium channel mutations and susceptibility of heart failure and atrial fibrillation.</strong>
|
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JAMA 293: 447-454, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15671429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671429" 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/10.1001/jama.293.4.447" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/29/2013
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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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Marla J. F. O'Neill - updated : 3/6/2008<br>Victor A. McKusick - updated : 2/20/2006
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</span>
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</div>
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</div>
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<div>
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<a id="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 : 3/22/1996
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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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 : 11/06/2024
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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 : 05/04/2022<br>alopez : 08/06/2019<br>carol : 09/16/2016<br>carol : 01/14/2015<br>carol : 6/15/2014<br>carol : 4/17/2014<br>carol : 3/19/2014<br>carol : 3/8/2013<br>alopez : 1/29/2013<br>carol : 12/22/2008<br>carol : 3/6/2008<br>carol : 9/4/2007<br>carol : 2/22/2006<br>terry : 2/20/2006<br>joanna : 3/18/2004<br>mgross : 9/13/1999<br>carol : 2/10/1999<br>dkim : 6/30/1998<br>mark : 1/6/1997<br>mark : 11/11/1996<br>mark : 3/22/1996
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</span>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 601154
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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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CARDIOMYOPATHY, DILATED, 1E; CMD1E
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA<br />
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CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CDCD2
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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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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 154;
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<strong>DO:</strong> 0110433;
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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">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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3p22.2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Cardiomyopathy, dilated, 1E
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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601154
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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SCN5A
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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600163
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1E (CMD1E) is caused by heterozygous mutation in the cardiac sodium channel gene SCN5A (600163) on chromosome 3p22.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).</p>
|
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</span>
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<div>
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
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</span>
|
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</h4>
|
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</div>
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<p>Greenlee et al. (1986) reported a large 4-generation family (family V) of German and Swiss ancestry with dilated cardiomyopathy, conduction defect, and arrhythmia. The phenotype included sinus node dysfunction in adolescence, supraventricular tachyarrhythmia, and progressive atrial ventricular and intraventricular conduction delay that led to permanent pacing in most cases. The phenotype was also characterized by a progression toward atrial dilation, frequently followed by right ventricular dilation and, in some cases, led to ventricular dilation and dysfunction. </p><p>Cheng et al. (2010) described 2 families with dilated cardiomyopathy (CMD) and arrhythmias. Pedigree A was a non-Hispanic white family, previously studied by Hershberger et al. (2008) (family C.3), with early-onset CMD occurring at approximately 29 years of age and prominent conduction system disease. The proband and his 2 affected sibs required implantable cardiac defibrillators (ICDs) at ages 32, 31, and 23 years, respectively. The proband's son had asymptomatic premature ventricular complexes (PVCs) detected during screening at 10 years of age and was diagnosed with CMD at age 17. Pedigree B was an African American family with CMD, also previously studied by Hershberger et al. (2008) (family C.7), in which the asymptomatic proband was diagnosed with CMD at 31 years of age after a screening echocardiogram showed left ventricular enlargement and low-normal ejection fraction. At 37 years of age, he developed symptoms of heart failure, with a 15-mm increase in left ventricular end-diastolic size and an ejection fraction that had decreased to 10%. An ICD was placed 1 year later, and he died suddenly at 42 years of age. His mother, who had a history of conduction system disease, was diagnosed with CMD at age 53 and died 5 years later of 'sudden cardiac death and arrhythmia,' according to her death certificate. His 72-year-old maternal aunt had cardiac arrhythmias including atrial fibrillation, first-degree atrioventricular block, and premature atrial contractions (PACs); she had an ejection fraction of 65% with left ventricular enlargement and tachyarrhythmias, but was not diagnosed with CMD. </p><p>Laurent et al. (2012) studied 21 affected individuals from 3 unrelated 3-generation families with multifocal ectopic Purkinje-related premature contractions and CMD. Age at diagnosis ranged from 24 weeks of gestation to 62 years (mean age, 20 years). Symptoms included palpitations, dyspnea, and syncope. Patients exhibited paroxysmal atrial arrhythmia, atrial flutter, and atrial fibrillation, as well as PVC rates ranging from 3,500 to 86,000 per 24-hour period. Six patients were diagnosed with CMD, and 4 patients required placement of ICDs. Sudden death was reported in 5 individuals. The electrocardiographic phenotype was remarkably consistent, with narrow sinus and junctional QRS complexes competing with various complexes showing an RBBB or LBBB pattern, corresponding to PVCs with superior or inferior axes. There was no QT prolongation or ST segment elevation. Electrophysiologic studies demonstrated that the PVCs originated from the Purkinje tissue. </p><p>Mann et al. (2012) studied a large kindred with CMD and multiple arrhythmias, including PVCs of variable morphologies. A striking feature of the EKG tracings from affected family members was the relative paucity of normally conducted sinus beats, with the majority of beats being PVCs, including narrow PVCs of probably high septal origin that had varying morphology and axis, as well as wide PVCs of left and right bundle branch type. PACs and accelerated junctional rhythms were also seen. Of the 16 affected individuals, 6 had documented atrial fibrillation, and 3 received pacemakers for symptomatic bradycardia or complete heart block in later life. Electrophysiologic studies done in 4 individuals uniformly showed multiple PVC foci in the left and right ventricles, with no inducible ventricular arrhythmias. Five patients had prophylactic placement of ICDs. Eight individuals had a diagnosis of CMD, including 2 asymptomatic young men who were diagnosed only as a result of family screening; in all other cases, the diagnosis was preceded by a history of palpitations. CMD was present in 7 of 9 affected males but in only 1 of 7 affected females. There was 1 clinically unaffected mutation carrier in this family (see MOLECULAR GENETICS), a 56-year-old man with a normal EKG and echocardiogram. Mann et al. (2012) noted that affected family members who had shown little or no benefit from standard heart failure therapy who, after genetic diagnosis, were switched to drugs with sodium channel-blocking properties, exhibited dramatic reductions in numbers of PVCs, with recovery of normal left ventricular function over approximately 6 months. </p>
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<p>Olson and Keating (1996) studied the family (family V; kindred 1500) reported by Greenlee et al. (1986) with dilated cardiomyopathy associated with sinus node dysfunction, supraventricular tachyarrhythmias, conduction delay, and stroke. Linkage to D3S2303 was identified with a 2-point lod score of 6.09 at a recombination fraction of 0.00. Haplotype analyses mapped this locus to a 30-cM region of 3p25-p22, excluding candidate genes encoding a G protein, GNAI2 (139360), a calcium channel, CACNL1A2 (114206), a sodium channel, SCN5A (600163), and an inositol-triphosphate receptor, ITPR1 (147265). </p>
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<p>The transmission pattern of CMD1E in family V reported by Greenlee et al. (1986) was consistent with autosomal dominant inheritance. </p>
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<p>In affected members of the family (family V) with dilated cardiomyopathy reported by Greenlee et al. (1986), McNair et al. (2004) identified heterozygosity for an asp1275-to-asn mutation (D1275N; 600163.0034) in the SCN5A gene. </p><p>Groenewegen et al. (2003) had found the same D1275N mutation, coinherited with polymorphisms in the atrial-specific junction channel protein connexin-40 (GJA5; 121013), in a family with atrial standstill (ATRST1; 108770). None of the affected members in this family had dilated cardiomyopathy, leading Groenewegen and Wilde (2005) to question the relationship of the SCN5A mutation to dilated cardiomyopathy in the family reported by McNair et al. (2004). McNair et al. (2005) responded that the younger age of the affected members studied by Groenewegen et al. (2003) as well as additional genetic or environmental factors may account for the difference between the 2 families. </p><p>Olson et al. (2005) analyzed the SCN5A gene in 156 unrelated patients with dilated cardiomyopathy who were negative for mutations in several known CMD genes and identified 5 different heterozygous mutations in 4 probands from multigenerational families segregating CMD and cardiac arrhythmias and in 1 patient with a de novo mutation (see, e.g., 600163.0027, 600163.0038-600163.0039). All of the mutations altered highly conserved residues in the transmembrane domains of SCN5A, and each was found to segregate with disease in the respective family. Among individuals with an SCN5A mutation, 27% had early features of CMD, 38% had CMD, and 43% had atrial fibrillation. </p><p>In affected members of 2 unrelated families with CMD and conduction system disease, Hershberger et al. (2008) identified heterozygosity for 2 different missense mutations in the SCN5A gene, R222Q (600163.0046) and I1835T (600163.0047), respectively. </p><p>In 3 unrelated families with multifocal ectopic Purkinje-related premature contractions and dilated cardiomyopathy, Laurent et al. (2012) identified heterozygosity for the R222Q mutation in the SCN5A gene, which was fully penetrant and strictly segregated with the cardiac phenotype in each family. The mutation was not found in 600 control chromosomes, and haplotype analysis showed that a founder effect for these 3 families was very unlikely. In vitro studies recapitulated the normalization of the ventricular action potentials in the presence of quinidine. Because only 6 of the 19 patients carrying the R222Q mutation had CMD, and the cardiomyopathy recovered at least partially with antiarrhythmia treatment and a reduction in the number of premature ventricular contractions, Laurent et al. (2012) suggested that CMD might be a consequence of the arrhythmia and not directly linked to the mutation. </p><p>In affected members of a 3-generation Canadian family with CMD and junctional escape ventricular capture bigeminy, Nair et al. (2012) identified the R222Q mutation in the SCN5A gene. All 6 patients had cardiac arrhythmias and 5 had left ventricular dysfunction, which was mild in 1 individual; the proband's brother, who carried the mutation, had only an ectopic atrial rhythm with normal left ventricular systolic function. Catheterization and mapping revealed that there was no consistent evidence of bundle branch reentry or fascicular potentials preceding ectopic beats, and there was no single site suitable for ablation. The results were consistent with the triggered activity originating from variable regions of the septum, most likely the left fascicle or possibly Purkinje muscle junctions and transitional cells. The bigeminy was suppressed by intravenous administration of the sodium channel blocker lidocaine. Patch-clamp studies demonstrated differential leftward voltage-dependent shifts in activation and inactivation of mutant channels, consistent with increasing channel excitability at precisely the voltages corresponding to the resting membrane potential of cardiomyocytes. Nair et al. (2012) stated that their results supported the notion that patients harboring the R222Q mutation develop cardiomyopathy as a result of the arrhythmia. </p><p>In 16 affected members over 3 generations of a large kindred with CMD and multiple arrhythmias, including PVCs of variable morphologies, Mann et al. (2012) identified heterozygosity for the R222Q mutation in the SCN5A gene. The mutation was also identified in 1 clinically unaffected family member, a 56-year-old man with a normal EKG and echocardiogram, but was not found in 200 control chromosomes. </p>
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<strong>REFERENCES</strong>
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Cheng, J., Morales, A., Siegfried, J. D., Li, D., Norton, N., Song, J., Gonzalez-Quintana, J., Makielski, J. C., Hershberger, R. E.
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<strong>SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.</strong>
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Clin. Transl. Sci. 3: 287-294, 2010.
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Greenlee, P. R., Anderson, J. L., Lutz, J. R., Lindsay, A. E., Hagan, A. D.
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<strong>Familial automaticity-conduction disorder with associated cardiomyopathy.</strong>
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West. J. Med. 144: 33-41, 1986.
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Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A.
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<strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong>
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Circ. Res. 92: 14-22, 2003.
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[PubMed: 12522116]
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Groenewegen, W. A., Wilde, A. A. M.
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<strong>Letter regarding article by McNair et al, 'SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia'. (Letter)</strong>
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Circulation 112: e9, 2005. Note: Electronic Article.
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[PubMed: 15998690]
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[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.104.531475]
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Hershberger, R. E., Parks, S. B., Kushner, J. D., Li, D., Ludwigsen, S., Jakobs, P., Nauman, D., Burgess, D., Partain, J., Litt, M.
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<strong>Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3 (sic), and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.</strong>
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Clin. Transl. Sci. 1: 21-26, 2008.
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[PubMed: 19412328]
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[Full Text: https://doi.org/10.1111/j.1752-8062.2008.00017.x]
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Laurent, G., Saal, S., Amarouch, M. Y., Beziau, D. M., Marsman, R. F. J., Faivre, L., Barc, J., Dina, C., Bertaux, G., Barthez, O., Thauvin-Robinet, C., Charron, P., and 15 others.
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<strong>Multifocal ectopic Purkinje-related premature contractions.</strong>
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J. Am. Coll. Cardiol. 60: 144-156, 2012.
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[PubMed: 22766342]
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[Full Text: https://doi.org/10.1016/j.jacc.2012.02.052]
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Mann, S. A., Castro, M. L., Ohanian, M., Guo, G., Zodgekar, P., Sheu, A., Stockhammer, K., Thompson, T., Playford, D., Subbiah, R., Kuchar, D., Aggarwal, A., Vandenberg, J. I., Fatkin, D.
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<strong>R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.</strong>
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J. Am. Coll. Cardiol. 60: 1566-1573, 2012.
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[PubMed: 22999724]
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[Full Text: https://doi.org/10.1016/j.jacc.2012.05.050]
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McNair, W. P., Ku, L., Taylor, M. R. G., Fain, P. R., Dao, D., Wolfel, E., Mestroni, L., Familial Cardiomyopathy Registry Research Group.
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<strong>SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.</strong>
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Circulation 110: 2163-2167, 2004.
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[PubMed: 15466643]
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[Full Text: https://doi.org/10.1161/01.CIR.0000144458.58660.BB]
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McNair, W. P., Ku, L., Taylor, M. R. G., Fain, P. R., Wolfel, E., Mestroni, L.
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<strong>Response to letter regarding article by McNair et al., 'SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia'. (Letter)</strong>
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Circulation 112: e9, 2005. Note: Electronic Article.
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Nair, K., Pekhletski, R., Harris, L., Care, M., Morel, C., Farid, T., Backx, P. H., Szabo, E., Nanthakumar, K.
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<strong>Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.</strong>
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Heart Rhythm 9: 1681-1688, 2012.
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[PubMed: 22710484]
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[Full Text: https://doi.org/10.1016/j.hrthm.2012.06.029]
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Olson, T. M., Keating, M. T.
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<strong>Mapping a cardiomyopathy locus to chromosome 3p22-p25.</strong>
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J. Clin. Invest. 97: 528-532, 1996.
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[PubMed: 8567977]
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[Full Text: https://doi.org/10.1172/JCI118445]
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Olson, T. M., Michels, V. V., Ballew, J. D., Reyna, S. P., Karst, M. L., Herron, K. I., Horton, S. C., Rodeheffer, R. J., Anderson, J. L.
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<strong>Sodium channel mutations and susceptibility of heart failure and atrial fibrillation.</strong>
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JAMA 293: 447-454, 2005.
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[PubMed: 15671429]
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[Full Text: https://doi.org/10.1001/jama.293.4.447]
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Marla J. F. O'Neill - updated : 1/29/2013<br>Marla J. F. O'Neill - updated : 3/6/2008<br>Victor A. McKusick - updated : 2/20/2006
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Victor A. McKusick : 3/22/1996
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carol : 11/06/2024<br>carol : 05/04/2022<br>alopez : 08/06/2019<br>carol : 09/16/2016<br>carol : 01/14/2015<br>carol : 6/15/2014<br>carol : 4/17/2014<br>carol : 3/19/2014<br>carol : 3/8/2013<br>alopez : 1/29/2013<br>carol : 12/22/2008<br>carol : 3/6/2008<br>carol : 9/4/2007<br>carol : 2/22/2006<br>terry : 2/20/2006<br>joanna : 3/18/2004<br>mgross : 9/13/1999<br>carol : 2/10/1999<br>dkim : 6/30/1998<br>mark : 1/6/1997<br>mark : 11/11/1996<br>mark : 3/22/1996
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