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Entry
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- #115200 - CARDIOMYOPATHY, DILATED, 1A; CMD1A
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- OMIM
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<p>
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<span class="h4">#115200</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/115200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS115200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=CARDIOMYOPATHY, DILATED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=635&Typ=Pat" title="Familial isolated dilated cardiomyopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial isolated dilated … </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21138&Typ=Pat" title="Familial dilated cardiomyopathy with conduction defect due to LMNA mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial dilated cardiomyo… </a></div>
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</div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1309/" title="Dilated Cardiomyopathy Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Dilated Cardiomyopathy Ove…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1674/" title="LMNA-Related Dilated Cardiomyopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">LMNA-Related Dilated Cardi…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/1094" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=115200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=154" title="Familial isolated dilated cardiomyopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial isolated dilated …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300751" title="Familial dilated cardiomyopathy with conduction defect due to LMNA mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial dilated cardiomyo…</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110425" 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/115200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000162,002796" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110425" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:115200" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 53043001<br />
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<strong>ORPHA:</strong> 154, 300751<br />
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<strong>DO:</strong> 0110425<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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115200
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CARDIOMYOPATHY, DILATED, 1A; CMD1A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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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 DEFECT 1; CDCD1<br />
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CARDIOMYOPATHY, IDIOPATHIC DILATED<br />
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CARDIOMYOPATHY, FAMILIAL IDIOPATHIC<br />
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CARDIOMYOPATHY, CONGESTIVE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="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>
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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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<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240">
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1q22
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cardiomyopathy, dilated, 1A
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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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<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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LMNA
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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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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/115200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS115200" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/115200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/115200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Cardiac </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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- Congestive cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53043001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53043001</a>, <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>, <a href="https://bioportal.bioontology.org/search?q=C1449563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1449563</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 /> - Conduction defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44808001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44808001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/426.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264886</a>]</span><br /> - Atrial fibrillation or flutter<br /> - Ventricular arrhythmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44103008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44103008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164893009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164893009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085612</a>, <a href="https://bioportal.bioontology.org/search?q=C0344424&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344424</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004308</a>]</span><br /> - Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> - Pericardial effusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373945007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373945007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1253937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1253937</a>, <a href="https://bioportal.bioontology.org/search?q=C0031039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001698" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001698</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001698" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001698</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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<span class="h5 mim-font">
|
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<strong> Neuro </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Normal neurologic examination<br /> - Adams-Stokes attacks<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>
|
|
<span class="h5 mim-font">
|
|
<strong> Lab </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Myocardial deposits of a nonmetachromatic, diastase-resistant, PAS-positive polysaccharide<br /> - Defect in suppressor lymphocyte function<br />
|
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|
|
</span>
|
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</div>
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|
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</div>
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Inheritance </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<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 /> - ? a recessive form also<br />
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</span>
|
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</div>
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</div>
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|
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<div class="text-right">
|
|
<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">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Dilated cardiomyopathy
|
|
- <a href="/phenotypicSeries/PS115200">PS115200</a>
|
|
- 60 Entries
|
|
</h5>
|
|
</div>
|
|
</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">
|
|
<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>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
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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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<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>
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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/615373"> 615373 </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/605557"> PRDM16 </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/605557"> 605557 </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/1/75?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"> Left ventricular noncompaction 8 </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>
|
|
<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">
|
|
<a href="/entry/615373"> 615373 </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/605557"> PRDM16 </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/605557"> 605557 </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/1/506?start=-3&limit=10&highlight=506"> 1p34.2 </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/618189"> Cardiomyopathy, dilated, 2C </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>
|
|
<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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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618189"> 618189 </a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609853"> PPCS </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/609853"> 609853 </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">
|
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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">
|
|
<a href="/entry/613122"> Cardiomyopathy, dilated, 1CC </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/613122"> 613122 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613121"> NEXN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613121"> 613121 </a>
|
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</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115200"> Cardiomyopathy, dilated, 1A </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/115200"> 115200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> LMNA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> 150330 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1563?start=-3&limit=10&highlight=1563"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601494"> Left ventricular noncompaction 6 </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/601494"> 601494 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191045"> TNNT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191045"> 191045 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1563?start=-3&limit=10&highlight=1563"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601494"> Cardiomyopathy, dilated, 1D </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/601494"> 601494 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191045"> TNNT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191045"> 191045 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1763?start=-3&limit=10&highlight=1763"> 1q42.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613697"> Cardiomyopathy, dilated, 1V </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/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">
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<a href="/entry/615916"> Cardiomyopathy, dilated, 1NN </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/615916"> 615916 </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/164760"> RAF1 </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/164760"> 164760 </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/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </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/601154"> Cardiomyopathy, dilated, 1E </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/601154"> 601154 </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/600163"> SCN5A </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/600163"> 600163 </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/3/377?start=-3&limit=10&highlight=377"> 3p21.1 </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/611879"> Cardiomyopathy, dilated, 1Z </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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|
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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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</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/611879"> 611879 </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/191040"> TNNC1 </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/191040"> 191040 </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/5/9?start=-3&limit=10&highlight=9"> 5p15.33 </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/613642"> Cardiomyopathy, dilated, 1GG </a>
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</span>
|
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</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>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613642"> 613642 </a>
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600857"> SDHA </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/600857"> 600857 </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/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
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|
|
</span>
|
|
</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>
|
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</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/606685"> 606685 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601411"> SGCD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601411"> 601411 </a>
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</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/92?start=-3&limit=10&highlight=92"> 6p22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620462"> Cardiomyopathy, dilated, 2I </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/620462"> 620462 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618385"> CAP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618385"> 618385 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/621?start=-3&limit=10&highlight=621"> 6q12-q16 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605582"> Cardiomyopathy, dilated, 1K </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/605582"> 605582 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605582"> CMD1K </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605582"> 605582 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/786?start=-3&limit=10&highlight=786"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615235"> Cardiomyopathy, dilated, 1JJ </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/615235"> 615235 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600133"> LAMA4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600133"> 600133 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/815?start=-3&limit=10&highlight=815"> 6q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609909"> Cardiomyopathy, dilated, 1P </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/609909"> 609909 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172405"> PLN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172405"> 172405 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
</td>
|
|
</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>
|
|
</td>
|
|
</tr>
|
|
|
|
<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>
|
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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/600884"> 600884 </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/600884"> CMD1B </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/600884"> 600884 </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">
|
|
|
|
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </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/611615"> Cardiomyopathy, dilated, 1X </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
|
|
</span>
|
|
</td>
|
|
<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>
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|
<span class="mim-font">
|
|
<a href="/entry/611615"> 611615 </a>
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607440"> FKTN </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/607440"> 607440 </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>
|
|
</td>
|
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<td>
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|
<span class="mim-font">
|
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<a href="/entry/615248"> Cardiomyopathy, dilated, 1KK </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>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
|
</span>
|
|
</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>
|
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</span>
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</td>
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</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>
|
|
<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, hypertrophic, 22 </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/10/312?start=-3&limit=10&highlight=312"> 10q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611407"> Cardiomyopathy, dilated, 1W </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/611407"> 611407 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193065"> VCL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193065"> 193065 </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, 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>
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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/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </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/615184"> Cardiomyopathy, dilated, 1II </a>
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</span>
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</td>
|
|
<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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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615184"> 615184 </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/123590"> CRYAB </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
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|
<a href="/entry/123590"> 123590 </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/12/230?start=-3&limit=10&highlight=230"> 12p12.1 </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/608569"> Cardiomyopathy, dilated, 1O </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">
|
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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/608569"> 608569 </a>
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|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601439"> ABCC9 </a>
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</span>
|
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</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/601439"> 601439 </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">
|
|
|
|
<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>
|
|
</td>
|
|
</tr>
|
|
|
|
<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"> Cardiomyopathy, dilated, 1S </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/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/14/92?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>
|
|
</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"> 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/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/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">
|
|
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<a href="/entry/611880"> ?Cardiomyopathy, dilated, 2A </a>
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<a href="/entry/300377"> DMD </a>
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<a href="/entry/300377"> 300377 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dilated cardiomyopathy-1A (CMD1A) is caused by heterozygous mutation in the lamin A/C gene (LMNA; <a href="/entry/150330">150330</a>) on chromosome 1q22.</p>
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<p>Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by <a href="#26" class="mim-tip-reference" title="Levitas, A., Muhammad, E., Harel, G., Saada, A., Caspi, V. C., Manor, E., Beck, J. C., Sheffield, V., Parvari, R. <strong>Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.</strong> Europ. J. Hum. Genet. 18: 1160-1165, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20551992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20551992</a>] [<a href="https://doi.org/10.1038/ejhg.2010.83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20551992">Levitas et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20551992" 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="#37" 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> noted that the causes of CMD include myocarditis, coronary artery disease, systemic diseases, and myocardial toxins; idiopathic dilated cardiomyopathy in which these causes are excluded represents approximately one-half of all cases. Idiopathic dilated cardiomyopathy occurs with a prevalence of about 36.5 per 100,000; it accounts for more than 10,000 deaths in the U.S. annually and is the primary indication for cardiac transplantation. <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'})"><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="#44" class="mim-tip-reference" title="Seidman, J. G., Seidman, C. <strong>The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.</strong> Cell 104: 557-567, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239412</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00242-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11239412">Seidman and Seidman (2001)</a> reviewed the clinical and genetic heterogeneity of dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239412" 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>Dilated cardiomyoopathy-1A (CMD1A) is an autosomal dominant disorder with typical onset between the ages of 30 and 40. In contrast to most other forms of familial CMD, sudden cardiac death may be the first manifestaton even in the absence of systolic dysfunction, owing to malignant arrhythmias such as ventricular tachycardia and fibrillation (summary by <a href="#25" class="mim-tip-reference" title="Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., Zhang, J. Z., Chen, X., and 12 others. <strong>Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.</strong> Nature 572: 335-340, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31316208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31316208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31316208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1406-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31316208">Lee et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31316208" 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><strong><em>Genetic Heterogeneity of Dilated Cardiomyopathy</em></strong></p><p>
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Mutations in many other genes have been found to cause different forms of autosomal dominant dilated cardiomyopathy. These include CMD1C (<a href="/entry/601493">601493</a>), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene (<a href="/entry/605906">605906</a>) on 10q23; CMD1D (<a href="/entry/601494">601494</a>), caused by mutation in the TNNT2 gene (<a href="/entry/191045">191045</a>) on 1q32; CMD1E (<a href="/entry/601154">601154</a>), caused by mutation in the SCN5A gene (<a href="/entry/600163">600163</a>) on 3p22; CMD1G (<a href="/entry/604145">604145</a>), caused by mutation in the TTN gene (<a href="/entry/188840">188840</a>) on 2q31; CMD1I (<a href="/entry/604765">604765</a>), caused by mutation in the DES gene (<a href="/entry/125660">125660</a>) on 2q35; CMD1J (<a href="/entry/605362">605362</a>), caused by mutation in the EYA4 gene (<a href="/entry/603550">603550</a>) on 6q23; CMD1L (<a href="/entry/606685">606685</a>), caused by mutation in the SGCD gene (<a href="/entry/601411">601411</a>) on 5q33; CMD1M (<a href="/entry/607482">607482</a>), caused by mutation in the CSRP3 gene (<a href="/entry/600824">600824</a>) on 11p15; CMD1O (<a href="/entry/608569">608569</a>), caused by mutation in the ABCC9 gene (<a href="/entry/601439">601439</a>) on 12p12; CMD1P (<a href="/entry/609909">609909</a>), caused by mutation in the PLN gene (<a href="/entry/172405">172405</a>) on 6q22; CMD1R (<a href="/entry/613424">613424</a>), caused by mutation in the ACTC gene (<a href="/entry/102540">102540</a>) on 15q14; CMD1S (<a href="/entry/613426">613426</a>), caused by mutation in the MYH7 gene (<a href="/entry/160760">160760</a>) on 14q12; CMD1U (<a href="/entry/613694">613694</a>), caused by mutation in the PSEN1 gene (<a href="/entry/104311">104311</a>) on 14q24; CMD1V (<a href="/entry/613697">613697</a>), caused by mutation in the PSEN2 gene (<a href="/entry/600759">600759</a>) on 1q42; CMD1W (<a href="/entry/611407">611407</a>), caused by mutation in the gene encoding metavinculin (VCL; <a href="/entry/193065">193065</a>) on 10q22; CMD1X (<a href="/entry/611615">611615</a>), caused by mutation in the gene encoding fukutin (FKTN; <a href="/entry/607440">607440</a>) on 9q31; CMD1Y (<a href="/entry/611878">611878</a>), caused by mutation in the TPM1 gene (<a href="/entry/191010">191010</a>) on 15q22; CMD1Z (<a href="/entry/611879">611879</a>), caused by mutation in the TNNC1 gene (<a href="/entry/191040">191040</a>) on 3p21; CMD1AA (<a href="/entry/612158">612158</a>), caused by mutation in the ACTN2 gene (<a href="/entry/102573">102573</a>) on 1q43; CMD1BB (<a href="/entry/612877">612877</a>), caused by mutation in the DSG2 gene (<a href="/entry/125671">125671</a>) on 18q12; CMD1CC (<a href="/entry/613122">613122</a>), caused by mutation in the NEXN gene (<a href="/entry/613121">613121</a>) on 1p31; CMD1DD (<a href="/entry/613172">613172</a>), caused by mutation in the RBM20 gene (<a href="/entry/613171">613171</a>) on 10q25; CMD1EE (<a href="/entry/613252">613252</a>), caused by mutation in the MYH6 gene (<a href="/entry/160710">160710</a>) on 14q12; CMD1FF (<a href="/entry/613286">613286</a>), caused by mutation in the TNNI3 gene (<a href="/entry/191044">191044</a>) on 19q13; CMD1GG (<a href="/entry/613642">613642</a>), caused by mutation in the SDHA gene (<a href="/entry/600857">600857</a>) on 5p15; CMD1HH (<a href="/entry/613881">613881</a>), caused by mutation in the BAG3 gene (<a href="/entry/603883">603883</a>) on 10q26; CMD1II (<a href="/entry/615184">615184</a>), caused by mutation in the CRYAB gene (<a href="/entry/123590">123590</a>) on 6q21; CMD1JJ (<a href="/entry/615235">615235</a>), caused by mutation in the LAMA4 gene (<a href="/entry/600133">600133</a>) on 6q21; CMD1KK (<a href="/entry/615248">615248</a>), caused by mutation in the MYPN gene (<a href="/entry/608517">608517</a>) on 10q21; CMD1LL (<a href="/entry/615373">615373</a>), caused by mutation in the PRDM16 gene (<a href="/entry/605557">605557</a>) on 1p36; CMD1MM (see <a href="/entry/615396">615396</a>), caused by mutation in the MYBPC3 gene (<a href="/entry/600958">600958</a>) on 11p11; CMD1NN (<a href="/entry/615916">615916</a>), caused by mutation in the RAF1 gene (<a href="/entry/164760">164760</a>) on 3p25; CMD1OO (<a href="/entry/620247">620247</a>), caused by mutation in the VEZF1 gene (<a href="/entry/606747">606747</a>) on chromosome 17q22; and CMD1PP (see <a href="/entry/617047">617047</a>), caused by mutation in the FLNC gene (<a href="/entry/102565">102565</a>) on chromosome 7q32.</p><p>Several additional loci for autosomal dominant familial dilated cardiomyopathy have been mapped: CMD1B (<a href="/entry/600884">600884</a>) on 9q13; CMD1H (<a href="/entry/604288">604288</a>) on 2q14-q22; CMD1K (<a href="/entry/605582">605582</a>) on 6q12-q16; and CMD1Q (<a href="/entry/609915">609915</a>) on 7q22.3-q31.1.</p><p>Autosomal recessive CMD includes CMD2A (<a href="/entry/611880">611880</a>), caused by mutation in the TNNI3 gene (<a href="/entry/191044">191044</a>) on 19q13; CMD2B (<a href="/entry/614672">614672</a>), caused by mutation in the GATAD1 gene (<a href="/entry/614518">614518</a>) on 7q21; CMD2C (<a href="/entry/618189">618189</a>), caused by mutation in the PPCS gene (<a href="/entry/609853">609853</a>) on 1p34; CMD2D (<a href="/entry/619371">619371</a>), caused by mutation in the RPL3L gene (<a href="/entry/617416">617416</a>) on 16p13; CMD2E (<a href="/entry/619492">619492</a>), caused by mutation in the JPH2 gene (<a href="/entry/605267">605267</a>) on chromosome 20q13; CMD2F (<a href="/entry/619747">619747</a>), caused by mutation in the BAG5 gene (<a href="/entry/603885">603885</a>) on chromosome 14q32; CMD2G (<a href="/entry/619897">619897</a>), caused by mutation in the LMOD2 gene (<a href="/entry/608006">608006</a>) on chromosome 7q31; CMD2H (<a href="/entry/620203">620203</a>), caused by mutation in the GET3 gene (<a href="/entry/601913">601913</a>) on chromosome 19p13; CMD2I (<a href="/entry/620462">620462</a>), caused by mutation in the CAP2 gene (<a href="/entry/618385">618385</a>) on chromosome 6p22; CMD2J (<a href="/entry/620635">620635</a>), caused by mutation in the FLII gene (<a href="/entry/600362">600362</a>) on chromosome 17p11; and CMD2K (<a href="/entry/620894">620894</a>), caused by mutation in the GCOM1 gene (see <a href="/entry/614071">614071</a>) on chromosome 15q21.</p><p>An X-linked form of CMD (CMD3B; <a href="/entry/302045">302045</a>) is caused by mutation in the DMD gene (<a href="/entry/300377">300377</a>). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome (<a href="/entry/302060">302060</a>).</p><p><strong><em>Reclassified Forms of CMD</em></strong></p><p>
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The symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy (<a href="/entry/601419">601419</a>).</p><p>The symbol CMD1N (see <a href="/entry/607487">607487</a>) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene (<a href="/entry/604488#0003">604488.0003</a>); this variant has been reclassified as a variant of unknown significance.</p><p>The symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene (<a href="/entry/188380#0001">188380.0001</a>); this variant has been reclassified as a variant of unknown significance.</p>
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<p><a href="#13" class="mim-tip-reference" title="Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Jr., Spudich, S., De Girolami, U., Seidman, J. G., Seidman, C. E. <strong>Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.</strong> New Eng. J. Med. 341: 1715-1724, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10580070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10580070</a>] [<a href="https://doi.org/10.1056/NEJM199912023412302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10580070">Fatkin et al. (1999)</a> reported clinical features in 39 affected members of 5 families with cardiovascular disease, including 25 members (64%) with dilated cardiomyopathy associated with conduction system disease, and mutation in the LMNA gene. The age at onset and severity of left ventricular dysfunction within each family with dilated cardiomyopathy were variable; impairment of left ventricular contraction was mild to moderate in 12 individuals, but heart failure developed in 13. Progression of disease was rapid in 6 members, who required cardiac transplantation within 3 years after diagnosis; 2 of these 6 died from accelerated coronary atherosclerosis in the transplanted heart. Eleven died suddenly between the ages of 30 and 59 years; the only prior arrhythmia of one of these was paroxysmal atrial tachyarrhythmia without electrocardiographic evidence of atrioventricular conduction delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10580070" 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="Brodsky, G. L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C., Mestroni, L. <strong>Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.</strong> Circulation 101: 473-476, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662742</a>] [<a href="https://doi.org/10.1161/01.cir.101.5.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662742">Brodsky et al. (2000)</a> reported 5 patients from a family (family MDDC1) with severe dilated cardiomyopathy with variable skeletal muscle involvement. Cardiac features included ventricular tachycardia, paroxysmal atrial fibrillation, premature atrial contractions, second- and third-degree atrioventricular block, and left bundle branch block. Two brothers had heart failure; one (II-5) died suddenly at age 30 and the other (II-1) had heart transplantation by age 22. Endocardial biopsies performed on the brothers showed significant abnormalities compatible with acute myocarditis in patient II-5 and healing myocarditis in patient II-1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662742" 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="#43" class="mim-tip-reference" title="Sebillon, P., Bouchier, C., Bidot, L. D., Bonne, G., Ahamed, K., Charron, P., Drouin-Garraud, V., Millaire, A., Desrumeaux, G., Benaiche, A., Charniot, J.-C., Schwartz, K., Villard, E., Komajda, M. <strong>Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.</strong> J. Med. Genet. 40: 560-567, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12920062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12920062</a>] [<a href="https://doi.org/10.1136/jmg.40.8.560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12920062">Sebillon et al. (2003)</a> reported patients from 3 unrelated families, including a family previously reported by <a href="#7" class="mim-tip-reference" title="Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M. <strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong> Hum. Mutat. 21: 473-481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673789</a>] [<a href="https://doi.org/10.1002/humu.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673789">Charniot et al. (2003)</a>, with dilated cardiomyopathy and mutation in the LMNA gene. The phenotype in family A was characterized by early atrial fibrillation preceding or coexisting with DCM, without significant AV block and without neuromuscular abnormalities. The phenotype in family B was characterized by DCM with conduction defect and/or with mild skeletal myopathy. The phenotype in family C was characterized by DCM with conduction defect or atrial/ventricular arrhythmias and with skeletal muscular dystrophy of the quadriceps muscles. The prognosis in the 3 families was relatvely poor and was characterized by 11 cardiac deaths and 2 heart transplantations. Cumulative survival at 50 and 65 years was 73% and 48%, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12673789+12920062" 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="#29" class="mim-tip-reference" title="Malek, L. A., Labib, S., Mazurkiewicz, L., Saj, M., Ploski, R., Tesson, F., Bilinska, Z. T. <strong>A new c.1621 C-G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.</strong> J. Hum. Genet. 56: 83-86, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21085127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21085127</a>] [<a href="https://doi.org/10.1038/jhg.2010.137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21085127">Malek et al. (2011)</a> reported 2 sibs with dilated cardiomyopathy and mutation in the LMNA gene. The 23-year-old proband had a history of paroxysmal atrioventricular nodal reentrant tachycardia and was found by echocardiogram to have dilation of the left ventricle and global hypokinesis. Cardiac MRI showed discrete regional areas of akinesis with muscle thinning in the left ventricle and marked hypertrabeculation in dysfunctional regions, as well as evidence of fibrosis. His sister had sinus bradycardia and supraventricular and ventricular arrhythmias, but normal echocardiogram and cardiac MRI. The sibs' father and paternal aunt had both died of dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21085127" 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><strong><em>Early Studies of Dilated Cardiomyopathy without Known Genetic Defect</em></strong></p><p>
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<a href="#47" class="mim-tip-reference" title="Whitfield, A. G. W. <strong>Familial cardiomyopathy.</strong> Quart. J. Med. 30: 119-134, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13784900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13784900</a>]" pmid="13784900">Whitfield (1961)</a> described a family in which 10 members were suffering or had died from cardiomyopathy and 6 others were probably affected. Although both males and females were affected, transmission seemingly occurred only through females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13784900" 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="#42" class="mim-tip-reference" title="Schrader, W. H., Pankey, G. A., Davis, R. B., Theologides, A. <strong>Familial idiopathic cardiomegaly.</strong> Circulation 24: 599-606, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13748557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13748557</a>] [<a href="https://doi.org/10.1161/01.cir.24.3.599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13748557">Schrader et al. (1961)</a> described 2 sisters with familial idiopathic cardiomegaly. Almost certainly the mother, who died at age 34, and probably 1 brother, who died at age 16, had the same condition. In the family reported by <a href="#2" class="mim-tip-reference" title="Battersby, E. J., Glenner, G. G. <strong>Familial cardiomyopathy.</strong> Am. J. Med. 30: 382-391, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13687796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13687796</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90048-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13687796">Battersby and Glenner (1961)</a>, affected persons were limited to 1 sibship and deposits of a nonmetachromatic, diastase-resistant, PAS-positive polysaccharide were described in the myocardium. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13748557+13687796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Kariv, I., Szeinberg, A., Fabian, I., Sherf, L., Kreisler, B., Zeltzer, M. <strong>A family with cardiomyopathy.</strong> Am. J. Med. 40: 140-148, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5900684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5900684</a>] [<a href="https://doi.org/10.1016/0002-9343(66)90195-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5900684">Kariv et al. (1966)</a> observed 6 affected persons in 3 generations. In 2 of these persons, Adams-Stokes attacks required an artificial pacemaker. The affected males showed significant increase in the serum levels of multiple muscle-derived enzymes. Heterogeneity was suggested by the finding of normal serum enzyme levels in affected members of a second family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5900684" 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="#34" class="mim-tip-reference" title="Moller, P., Lunde, P., Hovig, T., Nitter-Hauge, S. <strong>Familial cardiomyopathy: autosomally, dominantly inherited congestive cardiomyopathy with two cases of septal hypertrophy in one family.</strong> Clin. Genet. 16: 233-243, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/519893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">519893</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00995.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="519893">Moller et al. (1979)</a> described an autosomal dominant form of congestive cardiomyopathy. The earliest sign of the disease was arrhythmia and/or conduction defects. Symptoms of pump failure had their onset in adulthood. Three members of the extensively affected kindred had died suddenly. Septal hypertrophy was found in 2 affected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=519893" 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="#14" class="mim-tip-reference" title="Fragola, P. V., Autore, C., Picelli, A., Sommariva, L., Cannata, D., Sangiorgi, M. <strong>Familial idiopathic dilated cardiomyopathy.</strong> Am. Heart J. 115: 912-914, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354422</a>] [<a href="https://doi.org/10.1016/0002-8703(88)90900-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3354422">Fragola et al. (1988)</a> studied 44 first-degree relatives of 12 probands with idiopathic dilated cardiomyopathy. Affected relatives were identified in 4 of 12 families. In each case, the affected relatives were sibs. This may be due to a late age of onset for expression of genetic factors involved in the etiology of this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3354422" 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="#36" class="mim-tip-reference" title="O'Connell, J. B., Fowles, R. E., Robinson, J. A., Subramanian, R., Henkin, R. E., Gunnar, R. M. <strong>Clinical and pathologic findings of myocarditis in two families with dilated cardiomyopathy.</strong> Am. Heart J. 107: 127-135, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691219</a>] [<a href="https://doi.org/10.1016/0002-8703(84)90146-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6691219">O'Connell et al. (1984)</a> used endomyocardial biopsy and gallium-67 scans in patients with dilated cardiomyopathy to demonstrate a subset of patients with myocardial inflammation. Histologic confirmation was found at autopsy. A defect in suppressor lymphocyte function was found in 1 patient, who showed improvement with immunosuppressive therapy. In 1 family, 5 persons in 3 generations were affected; in another, a father and 2 brothers were affected. <a href="#2" class="mim-tip-reference" title="Battersby, E. J., Glenner, G. G. <strong>Familial cardiomyopathy.</strong> Am. J. Med. 30: 382-391, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13687796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13687796</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90048-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13687796">Battersby and Glenner (1961)</a> reported striking pericardial effusion in a family with cardiomyopathy. Other early reports (e.g., <a href="#12" class="mim-tip-reference" title="Evans, W. <strong>Familial cardiomegaly.</strong> Brit. Heart J. 11: 68-82, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18113470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18113470</a>] [<a href="https://doi.org/10.1136/hrt.11.1.68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18113470">Evans, 1949</a>) have commented on inflammatory changes found at necropsy. Pericardial effusion occurs episodically with the iron-overload cardiomyopathy of multitransfused thalassemia and occurs also in the cardiomyopathy of Friedreich ataxia (<a href="/entry/229300">229300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18113470+6691219+13687796" 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="#39" class="mim-tip-reference" title="Ozick, H., Hollander, G., Greengart, A., Shani, J., Lichstein, E. <strong>Dilated cardiomyopathy in identical twins.</strong> Chest 86: 878-880, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6541991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6541991</a>] [<a href="https://doi.org/10.1378/chest.86.6.878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6541991">Ozick et al. (1984)</a> reported identical twin sisters with congestive cardiomyopathy and autoimmune thyroid disease. Both had antithyroid microsomal antibodies and cytolytic antiheart myolemmal antibodies. The postpartum state may have been a factor in one of the twins; both cardiomyopathy and autoimmune thyroid disease may become clinically apparent in the postpartum period. <a href="#15" class="mim-tip-reference" title="Gardner, R. J. M., Ardinger, H. H., Florentine, M. S., Hanson, J. W., Hart, M. N., Hinrichs, R. L., Ionasescu, V. V., Mahoney, L. T., Rose, E. E., Skorton, D. J. <strong>Dominantly inherited dilated cardiomyopathy with skeletal myopathy. (Abstract)</strong> Am. J. Hum. Genet. 37: A54, 1985."None>Gardner et al. (1985)</a> evaluated a kindred in which 12 persons had cardiomegaly with poor ventricular function and/or dysrhythmia. The disorder was evident by echocardiogram in a 6-month-old infant. Skeletal muscle biopsies showed subtle myopathic alterations. The pedigree, spanning 5 generations, was consistent with autosomal dominant inheritance. <a href="#16" class="mim-tip-reference" title="Gardner, R. J. M., Hanson, J. W., Ionasescu, V. V., Ardinger, H. H., Skorton, D. J., Mahoney, L. T., Hart, M. N., Rose, E. F., Smith, W. L., Florentine, M. S., Hinrichs, R. L. <strong>Dominantly inherited dilated cardiomyopathy.</strong> Am. J. Med. Genet. 27: 61-73, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605207</a>] [<a href="https://doi.org/10.1002/ajmg.1320270108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605207">Gardner et al. (1987)</a> described a family in which multiple members in 3 and probably 4 generations had dilated cardiomyopathy with overt clinical onset between the fourth and seventh decades. Dysrhythmia was frequent. They concluded that there might be an associated skeletal myopathy manifested by very mild proximal weakness or detectable only on biopsy. <a href="#28" class="mim-tip-reference" title="MacLennan, B. A., Tsoi, E. Y., Maguire, C., Adgey, A. A. J. <strong>Familial idiopathic congestive cardiomyopathy in three generations: a family study with eight affected members.</strong> Quart. J. Med. 63: 335-347, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3685246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3685246</a>]" pmid="3685246">MacLennan et al. (1987)</a> described 8 affected individuals, 4 of whom were males in 3 generations. Average age at presentation was 39.5 years. Average time to death from onset of symptoms suggestive of cardiomyopathy in 6 affected members was 16 months. One member died suddenly after being asymptomatic. The myocardium showed variation in muscle fiber size and interstitial fibrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3685246+6541991+3605207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Graber, H. L., Unverferth, D. V., Baker, P. B., Ryan, J. M., Baba, N., Wooley, C. F. <strong>Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected.</strong> Circulation 74: 21-35, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3708775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3708775</a>] [<a href="https://doi.org/10.1161/01.cir.74.1.21" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3708775">Graber et al. (1986)</a> described a large kindred with an autosomal dominant form of disease of the cardiac conduction system and of the myocardium. Stage I occurred in the second and third decades and was characterized by absence of symptoms, normal heart size, sinus bradycardia, and premature atrial contractions. Stage II was marked by first-degree AV block in the third and fourth decades. Stage III occurred in the fourth and fifth decades and was accompanied by chest pain, fatigue, lightheadedness, and advanced AV block, followed by the development of atrial fibrillation or flutter. Stage IV, in the fifth and sixth decades of life, was characterized by congestive heart failure and recurrent ventricular arrhythmias. Right ventricular endomyocardial biopsy specimens showed progressive changes. At autopsy in the proband, the atrial changes were more severe than the ventricular ones. This suggested that the disorder discussed in entry <a href="/entry/108770">108770</a> is the same as this condition. While there was a range in the phenotypic expression of the inherited gene defect in this kindred, the dilated cardiomyopathy was less impressive than the dysrhythmia. Arrhythmias were the earliest manifestation of the disease (in the second to third decade). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3708775" 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 studies of the first-degree relatives of 59 index cases with idiopathic dilated cardiomyopathy, <a href="#32" class="mim-tip-reference" title="Michels, V. V., Moll, P. P., Miller, F. A., Tajik, A. J., Chu, J. S., Driscoll, D. J., Burnett, J. C., Rodeheffer, R. J., Chesebro, J. H., Tazelaar, H. D. <strong>The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.</strong> New Eng. J. Med. 326: 77-82, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1727235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1727235</a>] [<a href="https://doi.org/10.1056/NEJM199201093260201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1727235">Michels et al. (1992)</a> found that 18 relatives from 12 families had dilated cardiomyopathy. Thus, 12 of the 59 index patients (20.3%) had familial disease. No differences in age, sex, severity of disease, exposure to selected environmental factors, or electrocardiographic or echocardiographic features were detected between the index patients with familial disease and those with nonfamilial disease. A noteworthy finding was that 22 of 240 healthy relatives (9.2%) with normal ejection fractions had increased left ventricular diameters during systole or diastole (or both), as compared with 2 of 112 healthy control subjects (1.8%) who were studied separately. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1727235" 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="#9" class="mim-tip-reference" title="Csanady, M., Hogye, M., Kallai, A., Forster, T., Szarazajtai, T. <strong>Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms.</strong> Brit. Heart J. 74: 171-173, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7546997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7546997</a>] [<a href="https://doi.org/10.1136/hrt.74.2.171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7546997">Csanady et al. (1995)</a> compared 31 familial and 209 nonfamilial cases of dilated cardiomyopathy. They concluded that the familial form is more malignant: it occurs at an earlier age and progresses more rapidly than the nonfamilial form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7546997" 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="#41" class="mim-tip-reference" title="Schmidt, M. A., Michels, V. V., Edwards, W. D., Miller, F. A. <strong>Familial dilated cardiomyopathy.</strong> Am. J. Med. Genet. 31: 135-143, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3223495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3223495</a>] [<a href="https://doi.org/10.1002/ajmg.1320310116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3223495">Schmidt et al. (1988)</a> studied familial dilated cardiomyopathy in 6 families. The familial nature of the disorder was not readily apparent in 3 of these families until thorough family investigations were performed. The authors suggested that the family history should be reviewed in all patients with dilated cardiomyopathy and that further investigation of relatives should be performed if there are cases of unexplained heart disease, sudden unexpected death, or syncopal episodes. Echocardiography is a convenient noninvasive tool for these investigations. Early diagnosis is indicated for 2 reasons: treatment of significant arrhythmias may prevent sudden unexpected death, and genetic counseling can be provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3223495" 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="#31" class="mim-tip-reference" title="Meune, C., Van Berlo, J. H., Anselme, F., Bonne, G., Pinto, Y. M., Duboc, D. <strong>Primary prevention of sudden death in patients with lamin A/C gene mutations. (Letter)</strong> New Eng. J. Med. 354: 209-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16407522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16407522</a>] [<a href="https://doi.org/10.1056/NEJMc052632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16407522">Meune et al. (2006)</a> investigated the efficacy of implantable cardioverter-defibrillators (ICDs) in the primary prevention of sudden death in patients with cardiomyopathy due to lamin A/C gene mutations. Patients referred for permanent cardiac pacing were systematically offered the implantation of an ICD. The patients were enrolled solely on the basis of the presence of lamin A/C mutations associated with cardiac conduction defects. Indications for pacemaker implantation were progressive conduction block and sinus block. In all, 19 patients were treated. <a href="#31" class="mim-tip-reference" title="Meune, C., Van Berlo, J. H., Anselme, F., Bonne, G., Pinto, Y. M., Duboc, D. <strong>Primary prevention of sudden death in patients with lamin A/C gene mutations. (Letter)</strong> New Eng. J. Med. 354: 209-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16407522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16407522</a>] [<a href="https://doi.org/10.1056/NEJMc052632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16407522">Meune et al. (2006)</a> concluded that ICD implantation in patients with lamin A/C mutations who are in need of a pacemaker is effective in treating possibly lethal tachyarrhythmias, and that implantation of an ICD, rather than a pacemaker, should be considered for such patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16407522" 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="#25" class="mim-tip-reference" title="Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., Zhang, J. Z., Chen, X., and 12 others. <strong>Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.</strong> Nature 572: 335-340, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31316208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31316208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31316208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1406-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31316208">Lee et al. (2019)</a> modeled LMNA-related dilated cardiomyopathy (CMD) in vitro using patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs). These cardiomyocytes were developed from a large family cohort, members of which carried a frameshift mutation in LMNA that led to early termination of translation. Three of the carriers presented with atrial fibrillation that progressed to atrioventricular block, ventricular tachycardia, and CMD. Electrophysiologic studies showed that the mutant iPSC-CMs displayed aberrant calcium homeostasis that led to arrhythmias at the single-cell level. Mechanistically, <a href="#25" class="mim-tip-reference" title="Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., Zhang, J. Z., Chen, X., and 12 others. <strong>Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.</strong> Nature 572: 335-340, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31316208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31316208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31316208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1406-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31316208">Lee et al. (2019)</a> showed that the platelet-derived growth factor (PDGF) signaling pathway is activated in mutant iPSC-CMs compared to isogenic control iPSC-CMs. Conversely, pharmacologic and molecular inhibition of the PDGF signaling pathway ameliorated the arrhythmic phenotypes of mutant iPSC-CMs in vitro. The findings of <a href="#25" class="mim-tip-reference" title="Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., Zhang, J. Z., Chen, X., and 12 others. <strong>Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.</strong> Nature 572: 335-340, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31316208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31316208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31316208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1406-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31316208">Lee et al. (2019)</a> suggested that the activation of the PDGF pathway contributes to the pathogenesis of LMNA-related DCM, and that PDGFRB (<a href="/entry/173410">173410</a>) is a potential therapeutic target. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31316208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage studies, <a href="#22" class="mim-tip-reference" title="Kass, S., MacRae, C., Graber, H. L., Sparks, E. A., McNamara, D., Boudoulas, H., Basson, C. T., Baker, P. B., III, Cody, R. J., Fishman, M. C., Cox, N., Kong, A., Wooley, C. F., Seidman, J. G., Seidman, C. E. <strong>A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.</strong> Nature Genet. 7: 546-551, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951328</a>] [<a href="https://doi.org/10.1038/ng0894-546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951328">Kass et al. (1994)</a> demonstrated linkage of the disease locus to polymorphic loci near the centromere of chromosome 1; maximum multipoint lod score = 13.2 in the interval between D1S305 and D1S176. Based on the disease phenotype and the map location, <a href="#22" class="mim-tip-reference" title="Kass, S., MacRae, C., Graber, H. L., Sparks, E. A., McNamara, D., Boudoulas, H., Basson, C. T., Baker, P. B., III, Cody, R. J., Fishman, M. C., Cox, N., Kong, A., Wooley, C. F., Seidman, J. G., Seidman, C. E. <strong>A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.</strong> Nature Genet. 7: 546-551, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951328</a>] [<a href="https://doi.org/10.1038/ng0894-546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951328">Kass et al. (1994)</a> speculated that the gap junction protein connexin-40 (<a href="/entry/121013">121013</a>) is a candidate for the site of mutations that result in conduction system disease and dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951328" 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 dilated cardiomyopathy-1A in the families reported by <a href="#13" class="mim-tip-reference" title="Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Jr., Spudich, S., De Girolami, U., Seidman, J. G., Seidman, C. E. <strong>Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.</strong> New Eng. J. Med. 341: 1715-1724, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10580070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10580070</a>] [<a href="https://doi.org/10.1056/NEJM199912023412302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10580070">Fatkin et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10580070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a case-control study of idiopathic dilated cardiomyopathy in Baltimore, a roughly 3-fold increase in risk was observed among blacks after adjustment for potential confounding variables (<a href="#8" class="mim-tip-reference" title="Coughlin, S. S., Szklo, M., Baughman, K., Pearson, T. A. <strong>The epidemiology of idiopathic dilated cardiomyopathy in a biracial community.</strong> Am. J. Epidemiol. 131: 48-56, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2293752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2293752</a>] [<a href="https://doi.org/10.1093/oxfordjournals.aje.a115484" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2293752">Coughlin et al., 1990</a>). The increased frequency of dilated cardiomyopathy in black males was the basis in the past of the designation 'Osler-2 myocarditis'; Osler-2 was the black male ward at The Johns Hopkins Hospital. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2293752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 5 of 11 families with autosomal dominant dilated cardiomyopathy and conduction system defects, <a href="#13" class="mim-tip-reference" title="Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Jr., Spudich, S., De Girolami, U., Seidman, J. G., Seidman, C. E. <strong>Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.</strong> New Eng. J. Med. 341: 1715-1724, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10580070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10580070</a>] [<a href="https://doi.org/10.1056/NEJM199912023412302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10580070">Fatkin et al. (1999)</a> identified 5 heterozygous missense mutations in the LMNA gene (<a href="/entry/150330#0005">150330.0005</a>-<a href="/entry/150330#0009">150330.0009</a>). Each mutation caused heritable, progressive conduction system disease (sinus bradycardia, atrioventricular conduction block, or atrial arrhythmias) and dilated cardiomyopathy. Heart failure and sudden death occurred frequently within these families. No family members with mutations had either joint contractures or skeletal myopathy. Furthermore, serum creatine kinase levels were normal in family members with mutations in the lamin rod domain, but mildly elevated in some family members with a defect in the tail domain of lamin C. The findings indicated that the lamin A/C intermediate filament protein plays an important role in cardiac conduction and contractility. In an editorial accompanying the report of <a href="#13" class="mim-tip-reference" title="Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Jr., Spudich, S., De Girolami, U., Seidman, J. G., Seidman, C. E. <strong>Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.</strong> New Eng. J. Med. 341: 1715-1724, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10580070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10580070</a>] [<a href="https://doi.org/10.1056/NEJM199912023412302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10580070">Fatkin et al. (1999)</a>, <a href="#19" class="mim-tip-reference" title="Graham, R. M., Owens, W. A. <strong>Pathogenesis of inherited forms of dilated cardiomyopathy. (Editorial)</strong> New Eng. J. Med. 341: 1759-1762, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10580077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10580077</a>] [<a href="https://doi.org/10.1056/NEJM199912023412309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10580077">Graham and Owens (1999)</a> tabulated the chromosomal locations of the known loci responsible for inherited forms of dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10580070+10580077" 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="Brodsky, G. L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C., Mestroni, L. <strong>Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.</strong> Circulation 101: 473-476, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662742</a>] [<a href="https://doi.org/10.1161/01.cir.101.5.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662742">Brodsky et al. (2000)</a> presented a large family with a severe autosomal dominant dilated cardiomyopathy with an atrioventricular conduction defect in some affected members. In addition, some affected individuals had skeletal muscle symptoms varying from minimal weakness to a mild limb-girdle muscular dystrophy. One individual had a pattern of skeletal muscle involvement that the authors considered consistent with mild Emery-Dreifuss muscular dystrophy. Affected individuals were heterozygous for a single nucleotide deletion in the lamin A/C gene (<a href="/entry/150330#0013">150330.0013</a>). The authors highlighted the wide range in phenotype arising from this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662742" 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="#46" class="mim-tip-reference" title="Taylor, M. R. G., Fain, P. R., Sinagra, G., Robinson, M. L., Robertson, A. D., Carniel, E., Di Lenarda, A., Bohlmeyer, T. J., Ferguson, D. A., Brodsky, G. L., Boucek, M. M., Lascor, J., Moss, A. C., Li, W.-L. P., Stetler, G. L., Muntoni, F., Bristow, M. R., Mestroni, L., Familial Dilated Cardiomyopathy Registry Research Group. <strong>Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.</strong> J. Am. Coll. Cardiol. 41: 771-780, 2003. Note: Erratum: J. Am. Coll. Cardiol. 42: 590 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12628721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12628721</a>] [<a href="https://doi.org/10.1016/s0735-1097(02)02954-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12628721">Taylor et al. (2003)</a> screened the LMNA gene in 40 families with familial CMD and 9 patients with sporadic CMD and identified mutations in 3 families (see, e.g., <a href="/entry/150330#0017">150330.0017</a>) and 1 sporadic patient (S573L; <a href="/entry/150330#0041">150330.0041</a>). There was significant phenotypic variability in the patients studied, but the presence of skeletal muscle involvement, supraventricular arrhythmia, conduction defects, and 'mildly' dilated cardiomyopathy were predictors of LMNA mutations. The LMNA mutation carriers had a significantly poorer cumulative survival compared with noncarrier CMD patients, with an event-free survival at age 45 years of 31% versus 75%, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12628721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a French family with dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and skeletal muscular dystrophy of the quadriceps muscles, <a href="#7" class="mim-tip-reference" title="Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M. <strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong> Hum. Mutat. 21: 473-481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673789</a>] [<a href="https://doi.org/10.1002/humu.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673789">Charniot et al. (2003)</a> identified an arg377-to-his mutation in the LMNA gene (R377H; <a href="/entry/150330#0017">150330.0017</a>). The same mutation had been reported in patients with limb-girdle muscular dystrophy type-1B (see EDMD2, <a href="/entry/181350">181350</a>), a slowly progressive muscular dystrophy with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. <a href="#7" class="mim-tip-reference" title="Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M. <strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong> Hum. Mutat. 21: 473-481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673789</a>] [<a href="https://doi.org/10.1002/humu.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673789">Charniot et al. (2003)</a> suggested that factors other than the R377H mutation may have influenced the phenotypic expression in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12673789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 families with dilated cardiomyopathy with conduction defects, including the family previously reported by <a href="#7" class="mim-tip-reference" title="Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M. <strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong> Hum. Mutat. 21: 473-481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673789</a>] [<a href="https://doi.org/10.1002/humu.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673789">Charniot et al. (2003)</a>, <a href="#43" class="mim-tip-reference" title="Sebillon, P., Bouchier, C., Bidot, L. D., Bonne, G., Ahamed, K., Charron, P., Drouin-Garraud, V., Millaire, A., Desrumeaux, G., Benaiche, A., Charniot, J.-C., Schwartz, K., Villard, E., Komajda, M. <strong>Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.</strong> J. Med. Genet. 40: 560-567, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12920062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12920062</a>] [<a href="https://doi.org/10.1136/jmg.40.8.560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12920062">Sebillon et al. (2003)</a> identified 3 different mutations in the LMNA gene (<a href="/entry/150330#0017">150330.0017</a>, <a href="/entry/150330#0028">150330.0028</a>, <a href="/entry/150330#0029">150330.0029</a>). In 1 family, the phenotype was characterized by early-onset atrial fibrillation preceding or coexisting with dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12673789+12920062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Kimura, A. <strong>Contribution of genetic factors to the pathogenesis of dilated cardiopathy--the cause of dilated cardiomyopathy: acquired or genetic? (Genetic-side).</strong> Circ. J. 75: 1756-1765, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21617319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21617319</a>] [<a href="https://doi.org/10.1253/circj.cj-11-0368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21617319">Kimura (2011)</a> reviewed the contribution of genetics in the pathogenesis of dilated cardiomyopathy and discussed functional aspects of sarcolemmal, contractile element, Z disc element, sarcoplasmic element, and nuclear lamina mutations. The author noted that there was no major disease gene for Japanese CMD patients reported to date. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21617319" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Mutation in the ILK gene (see <a href="/entry/602366#0001">602366.0001</a>) is a possible cause of CMD, as is mutation in the ITGB1BP2 gene (see <a href="/entry/300332#0001">300332.0001</a>).</p><p>For discussion of a possible association between variation in the SOD2 gene (<a href="/entry/147460">147460</a>) and nonfamilial dilated cardiomyopathy or lethal neonatal dilated cardiomyopathy, see <a href="/entry/147460#0001">147460.0001</a> and <a href="/entry/147460#0002">147460.0002</a>, respectively.</p><p>For discussion of a possible association between dilated cardiomyopathy and variation in the MYBPHL gene, see <a href="/entry/619807#0001">619807.0001</a>.</p>
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<p><a href="#20" class="mim-tip-reference" title="Gupta, P., Bilinska, Z. T., Sylvius, N., Boudreau, E., Veinot, J. P., Labib, S., Bolongo, P. M., Hamza, A., Jackson, T., Ploski, R., Walski, M., Grzybowski, J., Walczak, E., Religa, G., Fidzianska, A., Tesson, F. <strong>Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.</strong> Basic Res. Cardiol. 105: 365-377, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20127487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20127487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20127487[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/10.1007/s00395-010-0085-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20127487">Gupta et al. (2010)</a> analyzed the LMNA gene in heart samples from 25 unrelated CMD patients and identified 3 heterozygous missense mutations in 3 patients as well as a heterozygous deletion of exons 3 to 12 in 1 patient. The LMNA deletion and 1 of the missense mutations were associated with major cardiomyocyte nuclear envelope abnormalities, whereas the other 2 missense mutations were found in patients without specific nuclear envelope abnormalities. <a href="#20" class="mim-tip-reference" title="Gupta, P., Bilinska, Z. T., Sylvius, N., Boudreau, E., Veinot, J. P., Labib, S., Bolongo, P. M., Hamza, A., Jackson, T., Ploski, R., Walski, M., Grzybowski, J., Walczak, E., Religa, G., Fidzianska, A., Tesson, F. <strong>Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.</strong> Basic Res. Cardiol. 105: 365-377, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20127487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20127487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20127487[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/10.1007/s00395-010-0085-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20127487">Gupta et al. (2010)</a> stated that they did not find any evidence of a genotype/phenotype relationship between the onset and severity of CMD, the presence of nuclear abnormalities, and the presence or absence of LMNA mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20127487" 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="#10" class="mim-tip-reference" title="Elliott, J. F., Liu, J., Yuan, Z.-N., Bautista-Lopez, N., Wallbank, S. L., Suzuki, K., Rayner, D., Nation, P., Robertson, M. A., Liu, G., Kavanagh, K. M. <strong>Autoimmune cardiomyopathy and heart block develop spontaneously in HLA-DQ8 transgenic IA-beta knockout NOD mice.</strong> Proc. Nat. Acad. Sci. 100: 13447-13452, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14570980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14570980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14570980[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2235552100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14570980">Elliott et al. (2003)</a> generated HLA-DQ8 transgenic AI-beta knockout NOD mice that did not show insulitis or diabetes but developed dilated cardiomyopathy. The constellation of findings of spontaneously arising destructive focal lymphocytic infiltrates within the myocardium, rising titers of circulating anticardiac autoantibodies, dilation of the cardiac chambers, and gradual progression to end-stage heart failure bore a striking resemblance to clinical features in humans with idiopathic dilated cardiomyopathy. <a href="#10" class="mim-tip-reference" title="Elliott, J. F., Liu, J., Yuan, Z.-N., Bautista-Lopez, N., Wallbank, S. L., Suzuki, K., Rayner, D., Nation, P., Robertson, M. A., Liu, G., Kavanagh, K. M. <strong>Autoimmune cardiomyopathy and heart block develop spontaneously in HLA-DQ8 transgenic IA-beta knockout NOD mice.</strong> Proc. Nat. Acad. Sci. 100: 13447-13452, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14570980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14570980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14570980[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2235552100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14570980">Elliott et al. (2003)</a> concluded that this transgenic strain provides a highly relevant animal model for human autoimmune myocarditis and postinflammatory dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14570980" 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="#35" class="mim-tip-reference" title="Mounkes, L. C., Kozlov, S. V., Rottman, J. N., Stewart, C. L. <strong>Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.</strong> Hum. Molec. Genet. 14: 2167-2180, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15972724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15972724</a>] [<a href="https://doi.org/10.1093/hmg/ddi221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15972724">Mounkes et al. (2005)</a> generated mice expressing the human N195K (<a href="/entry/150330#0007">150330.0007</a>) mutation and observed characteristics consistent with CMD1A. Continuous electrocardiographic monitoring of cardiac activity demonstrated that N195K-homozygous mice died at an early age due to arrhythmia. Immunofluorescence and Western blot analysis showed that Hf1b/Sp4 (<a href="/entry/600540">600540</a>), connexin-40 (GJA5; <a href="/entry/121013">121013</a>), and connexin-43 (GJA1; <a href="/entry/121014">121014</a>) were misexpressed and/or mislocalized in N195K-homozygous mouse hearts. Desmin staining revealed a loss of organization at sarcomeres and intercalated disks. <a href="#35" class="mim-tip-reference" title="Mounkes, L. C., Kozlov, S. V., Rottman, J. N., Stewart, C. L. <strong>Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.</strong> Hum. Molec. Genet. 14: 2167-2180, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15972724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15972724</a>] [<a href="https://doi.org/10.1093/hmg/ddi221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15972724">Mounkes et al. (2005)</a> hypothesized that mutations within the LMNA gene may cause cardiomyopathy by disrupting the internal organization of the cardiomyocyte and/or altering the expression of transcription factors essential to normal cardiac development, aging, or function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15972724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#5" class="mim-tip-reference" title="Boyd, D. L., Mishkin, M. E., Feigenbaum, H., Genovese, P. D. <strong>Three families with familial cardiomyopathy.</strong> Ann. Intern. Med. 63: 386-401, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14327505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14327505</a>] [<a href="https://doi.org/10.7326/0003-4819-63-3-386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14327505">Boyd et al. (1965)</a> suggested that there may be 3 forms of cardiomyopathy: (1) a form with predominant fibrosis, (2) a form with predominant hypertrophy (see ventricular hypertrophy, hereditary; <a href="/entry/192600">192600</a>), and (3) a form with deposits of a nonmetachromatic, diastase-resistant, PAS-positive polysaccharide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14327505" 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="#40" class="mim-tip-reference" title="Rywlin, A. M., Barold, S. S., Linhart, J. W., Kramer, H. C., Meitus, M. L., Samet, P. <strong>Idiopathic familial cardiopathy: a study of two families.</strong> J. Genet. Hum. 17: 453-470, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5387421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5387421</a>]" pmid="5387421">Rywlin et al. (1969)</a> favored the view that obstructive and nonobstructive forms of familial cardiopathy are different expressions of a single entity. Classification into 'hypertrophic' and 'congestive' clinical types by <a href="#17" class="mim-tip-reference" title="Goodwin, J. F. <strong>Congestive and hypertrophic cardiomyopathies.</strong> Lancet 295: 732-739, 1970. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4191245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4191245</a>]" pmid="4191245">Goodwin (1970)</a> implies the same. <a href="#45" class="mim-tip-reference" title="Sommer, A., Sanz, G., Craenen, J. M., Newton, W. A., Jr. <strong>Familial cardiomyopathy.</strong> Birth Defects Orig. Art. Ser. VIII(5): 178-181, 1972."None>Sommer et al. (1972)</a> took an opposite view, i.e., that there is a separate nonobstructive familial cardiomyopathy. They described an Amish family with affected persons in 3 generations. Severity varied widely. The most severely affected pursued a rapidly fatal course whereas others manifested mainly conduction defects compatible with long survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5387421+4191245" 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><strong><em>Inheritance</em></strong></p><p>
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<a href="#27" class="mim-tip-reference" title="Machida, K., Iguchi, K., Yoshimi, S., Saito, Y., Sugishita, Y., Murayama, M., Mori, M., Yamaguchi, H., Ito, I., Uede, H. <strong>Familial cardiomyopathy: immunological studies and review of literatures on autopsied cases in Japan.</strong> Jpn. Heart J. 12: 40-49, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5313423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5313423</a>]" pmid="5313423">Machida et al. (1971)</a> described a Japanese family with affected persons in 2 and perhaps 3 generations with male-to-male transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5313423" 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="#11" class="mim-tip-reference" title="Emanuel, R., Withers, R., O'Brien, K. <strong>Dominant and recessive modes of inheritance in idiopathic cardiomyopathy.</strong> Lancet 298: 1065-1067, 1971. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4106916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4106916</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)90383-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4106916">Emanuel et al. (1971)</a> suggested that both dominant and recessive forms may exist. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4106916" 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>The possibility of an autosomal recessive form of congestive cardiomyopathy was raised by <a href="#48" class="mim-tip-reference" title="Yamaguchi, M., Toshima, H., Yanase, T., Ikeda, H., Koga, Y., Yoshioka, H., Ito, M., Fujino, T., Yasuda, H. <strong>A family study of idiopathic cardiomyopathy.</strong> Proc. Jpn. Acad. 53 (ser. B): 209-214, 1977."None>Yamaguchi et al. (1977)</a>, who found an astoundingly high rate of parental consanguinity (about 64%) and a segregation ratio of 0.196 consistent with autosomal recessive inheritance.</p><p><a href="#24" class="mim-tip-reference" title="Koike, S., Kawa, S., Yabu, K., Endo, R., Sasaki, Y., Furuta, S., Ota, M. <strong>Familial dilated cardiomyopathy and human leucocyte antigen: a report of two family cases.</strong> Jpn. Heart J. 28: 941-945, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3444043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3444043</a>] [<a href="https://doi.org/10.1536/ihj.28.941" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3444043">Koike et al. (1987)</a> described 2 families with dilated cardiomyopathy. In 1 of these families, the mode of inheritance was autosomal dominant; in the other, it appeared to be autosomal recessive. In both families, the pattern of inheritance was consistent with linkage to the HLA locus; however, because the families were small, the lod scores were low. From linkage studies in 12 families, <a href="#38" class="mim-tip-reference" title="Olson, T. M., Thibodeau, S. N., Lundquist, P. A., Schaid, D. J., Michels, V. V. <strong>Exclusion of a primary defect at the HLA locus in familial idiopathic dilated cardiomyopathy.</strong> J. Med. Genet. 32: 876-880, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592331</a>] [<a href="https://doi.org/10.1136/jmg.32.11.876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8592331">Olson et al. (1995)</a> excluded genetic linkage between the disease phenotype and a 21-cM region spanning the HLA cluster in at least 60% of the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8592331+3444043" 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>Among 100 patients with dilated cardiomyopathy, <a href="#30" class="mim-tip-reference" title="McKenna, C. J., Codd, M. B., McCann, H. A., Sugrue, D. D. <strong>Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution.</strong> Heart 77: 549-552, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9227300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9227300</a>] [<a href="https://doi.org/10.1136/hrt.77.6.549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9227300">McKenna et al. (1997)</a> found that familial prevalence was definite in 14 of 56 (25%) and possible in 25 of 56 (45%). The HLA-DR4 frequency in the 100 patients with dilated cardiomyopathy was similar to that in 9,000 controls; however, the DR4 subtype was significantly more common in the 25 probands with a familial tendency to dilated cardiomyopathy than in the 31 probands with nonfamilial dilated cardiomyopathy. <a href="#30" class="mim-tip-reference" title="McKenna, C. J., Codd, M. B., McCann, H. A., Sugrue, D. D. <strong>Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution.</strong> Heart 77: 549-552, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9227300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9227300</a>] [<a href="https://doi.org/10.1136/hrt.77.6.549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9227300">McKenna et al. (1997)</a> concluded that there is an HLA-linked predisposition to familial dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9227300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Barry1962" class="mim-tip-reference" title="Barry, M., Hall, M. <strong>Familial cardiomyopathy.</strong> Brit. Heart J. 24: 613-624, 1962.">Barry and Hall (1962)</a>; <a href="#Biorck1964" class="mim-tip-reference" title="Biorck, G., Orinius, E. <strong>Familial cardiomyopathies.</strong> Acta Med. Scand. 176: 407-424, 1964.">Biorck and Orinius (1964)</a>; <a href="#Bishop1962" class="mim-tip-reference" title="Bishop, J. M., Campbell, M., Jones, E. W. <strong>Cardiomyopathy in four members of a family.</strong> Brit. Heart J. 24: 715-728, 1962.">Bishop et al.
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(1962)</a>; <a href="#Michels1989" class="mim-tip-reference" title="Michels, V. V., Moll, P. P., Miller, F. A., Tajik, A. J., Driscoll, D. J., Chu, J. S., Burnett, J. C., Chesebro, J. H., Rodeheffer, R. J. <strong>Frequency of familial dilated cardiomyopathy in an unselected series of patients with idiopathic dilated cardiomyopathy. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A55, 1989.">Michels et al. (1989)</a>
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[<a href="https://doi.org/10.1136/hrt.24.5.613" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(61)90048-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/hrt.24.6.715" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-63-3-386" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/01.cir.101.5.473" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.10170" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/oxfordjournals.aje.a115484" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/hrt.74.2.171" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.2235552100" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(71)90383-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/hrt.11.1.68" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199912023412302" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-8703(88)90900-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/01.cir.74.1.21" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6691219" 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/10.1016/0002-8703(84)90146-7" target="_blank">Full Text</a>]
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<a id="37" 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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[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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<a id="Olson1995" class="mim-anchor"></a>
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<p class="mim-text-font">
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Olson, T. M., Thibodeau, S. N., Lundquist, P. A., Schaid, D. J., Michels, V. V.
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<strong>Exclusion of a primary defect at the HLA locus in familial idiopathic dilated cardiomyopathy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8592331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.32.11.876" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
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<a id="Ozick1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ozick, H., Hollander, G., Greengart, A., Shani, J., Lichstein, E.
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<strong>Dilated cardiomyopathy in identical twins.</strong>
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Chest 86: 878-880, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6541991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6541991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6541991" 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/10.1378/chest.86.6.878" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
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<a id="Rywlin1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rywlin, A. M., Barold, S. S., Linhart, J. W., Kramer, H. C., Meitus, M. L., Samet, P.
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<strong>Idiopathic familial cardiopathy: a study of two families.</strong>
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J. Genet. Hum. 17: 453-470, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5387421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5387421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5387421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Schmidt1988" class="mim-anchor"></a>
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<p class="mim-text-font">
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Schmidt, M. A., Michels, V. V., Edwards, W. D., Miller, F. A.
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<strong>Familial dilated cardiomyopathy.</strong>
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Am. J. Med. Genet. 31: 135-143, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3223495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3223495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3223495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320310116" target="_blank">Full Text</a>]
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<a id="Schrader1961" class="mim-anchor"></a>
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<p class="mim-text-font">
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Schrader, W. H., Pankey, G. A., Davis, R. B., Theologides, A.
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<strong>Familial idiopathic cardiomegaly.</strong>
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Circulation 24: 599-606, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13748557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13748557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13748557" 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.24.3.599" target="_blank">Full Text</a>]
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<a id="Sebillon2003" class="mim-anchor"></a>
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Sebillon, P., Bouchier, C., Bidot, L. D., Bonne, G., Ahamed, K., Charron, P., Drouin-Garraud, V., Millaire, A., Desrumeaux, G., Benaiche, A., Charniot, J.-C., Schwartz, K., Villard, E., Komajda, M.
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<strong>Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.</strong>
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J. Med. Genet. 40: 560-567, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12920062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12920062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12920062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.40.8.560" target="_blank">Full Text</a>]
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<a id="Seidman2001" class="mim-anchor"></a>
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Seidman, J. G., Seidman, C.
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<strong>The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.</strong>
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Cell 104: 557-567, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239412" 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/s0092-8674(01)00242-2" target="_blank">Full Text</a>]
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<a id="45" class="mim-anchor"></a>
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<a id="Sommer1972" class="mim-anchor"></a>
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<div class="">
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Sommer, A., Sanz, G., Craenen, J. M., Newton, W. A., Jr.
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<strong>Familial cardiomyopathy.</strong>
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Birth Defects Orig. Art. Ser. VIII(5): 178-181, 1972.
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<a id="Taylor2003" class="mim-anchor"></a>
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Taylor, M. R. G., Fain, P. R., Sinagra, G., Robinson, M. L., Robertson, A. D., Carniel, E., Di Lenarda, A., Bohlmeyer, T. J., Ferguson, D. A., Brodsky, G. L., Boucek, M. M., Lascor, J., Moss, A. C., Li, W.-L. P., Stetler, G. L., Muntoni, F., Bristow, M. R., Mestroni, L., Familial Dilated Cardiomyopathy Registry Research Group.
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<strong>Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.</strong>
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J. Am. Coll. Cardiol. 41: 771-780, 2003. Note: Erratum: J. Am. Coll. Cardiol. 42: 590 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12628721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12628721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12628721" 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/s0735-1097(02)02954-6" target="_blank">Full Text</a>]
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<a id="Whitfield1961" class="mim-anchor"></a>
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Whitfield, A. G. W.
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<strong>Familial cardiomyopathy.</strong>
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Quart. J. Med. 30: 119-134, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13784900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13784900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13784900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yamaguchi, M., Toshima, H., Yanase, T., Ikeda, H., Koga, Y., Yoshioka, H., Ito, M., Fujino, T., Yasuda, H.
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<strong>A family study of idiopathic cardiomyopathy.</strong>
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Proc. Jpn. Acad. 53 (ser. B): 209-214, 1977.
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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 : 06/04/2021
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/04/2019<br>Marla J. F. O'Neill - updated : 4/21/2015<br>Marla J. F. O'Neill - updated : 4/30/2014<br>Marla J. F. O'Neill - updated : 1/30/2014<br>Marla J. F. O'Neill - updated : 9/4/2013<br>Marla J. F. O'Neill - updated : 5/16/2013<br>Marla J. F. O'Neill - updated : 6/5/2012<br>Marla J. F. O'Neill - updated : 11/15/2011<br>Marla J. F. O'Neill - updated : 6/10/2011<br>Marla J. F. O'Neill - updated : 4/8/2011<br>Marla J. F. O'Neill - updated : 11/9/2010<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Marla J. F. O'Neill - updated : 2/4/2010<br>George E. Tiller - updated : 11/19/2008<br>Marla J. F. O'Neill - updated : 6/30/2008<br>Marla J. F. O'Neill - updated : 3/6/2008<br>Marla J. F. O'Neill - updated : 11/21/2007<br>Victor A. McKusick - updated : 11/27/2006<br>Victor A. McKusick - updated : 2/15/2006<br>Marla J. F. O'Neill - updated : 10/14/2005<br>Marla J. F. O'Neill - updated : 2/7/2005<br>Marla J. F. O'Neill - updated : 6/29/2004<br>Ada Hamosh - updated : 3/24/2003<br>Victor A. McKusick - updated : 8/22/2002<br>Victor A. McKusick - updated : 1/4/2001<br>Paul Brennan - updated : 4/10/2000<br>Victor A. McKusick - updated : 12/3/1999<br>Victor A. McKusick - updated : 9/19/1997
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Creation Date:
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Victor A. McKusick : 6/23/1986
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carol : 11/07/2024
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alopez : 07/15/2024<br>carol : 03/20/2024<br>alopez : 11/28/2023<br>alopez : 08/03/2023<br>alopez : 06/16/2023<br>carol : 06/14/2023<br>alopez : 02/15/2023<br>carol : 05/04/2022<br>alopez : 04/12/2022<br>alopez : 02/10/2022<br>carol : 12/22/2021<br>alopez : 08/18/2021<br>carol : 06/04/2021<br>alopez : 10/19/2020<br>carol : 12/05/2019<br>alopez : 12/04/2019<br>carol : 11/15/2018<br>carol : 09/27/2018<br>alopez : 07/12/2018<br>carol : 02/07/2017<br>carol : 02/06/2017<br>carol : 02/06/2017<br>carol : 07/20/2016<br>carol : 07/19/2016<br>mgross : 04/24/2015<br>carol : 4/21/2015<br>alopez : 3/17/2015<br>carol : 5/1/2014<br>mcolton : 4/30/2014<br>carol : 1/30/2014<br>carol : 9/4/2013<br>carol : 8/20/2013<br>carol : 5/24/2013<br>carol : 5/16/2013<br>carol : 6/5/2012<br>terry : 6/5/2012<br>carol : 4/4/2012<br>alopez : 2/3/2012<br>carol : 11/15/2011<br>joanna : 10/28/2011<br>carol : 9/30/2011<br>wwang : 6/16/2011<br>terry : 6/10/2011<br>wwang : 4/8/2011<br>carol : 4/8/2011<br>alopez : 2/10/2011<br>alopez : 1/14/2011<br>alopez : 1/14/2011<br>wwang : 11/16/2010<br>terry : 11/11/2010<br>terry : 11/9/2010<br>carol : 6/7/2010<br>wwang : 2/26/2010<br>wwang : 2/15/2010<br>terry : 2/4/2010<br>wwang : 12/9/2009<br>wwang : 11/17/2009<br>wwang : 6/26/2009<br>carol : 2/24/2009<br>terry : 2/3/2009<br>terry : 1/9/2009<br>wwang : 11/19/2008<br>alopez : 7/1/2008<br>terry : 6/30/2008<br>carol : 3/6/2008<br>carol : 11/27/2007<br>carol : 11/26/2007<br>carol : 11/26/2007<br>carol : 11/26/2007<br>terry : 11/21/2007<br>carol : 9/4/2007<br>carol : 9/4/2007<br>alopez : 11/29/2006<br>terry : 11/27/2006<br>carol : 4/19/2006<br>carol : 2/24/2006<br>wwang : 2/24/2006<br>wwang : 2/23/2006<br>wwang : 2/22/2006<br>wwang : 2/21/2006<br>alopez : 2/15/2006<br>carol : 10/14/2005<br>carol : 10/14/2005<br>carol : 8/2/2005<br>tkritzer : 2/8/2005<br>terry : 2/7/2005<br>carol : 12/9/2004<br>carol : 6/29/2004<br>terry : 6/29/2004<br>carol : 6/17/2004<br>ckniffin : 4/15/2004<br>alopez : 4/6/2004<br>mgross : 9/18/2003<br>alopez : 3/24/2003<br>terry : 3/24/2003<br>mgross : 1/16/2003<br>mgross : 1/15/2003<br>carol : 11/12/2002<br>carol : 8/23/2002<br>terry : 8/22/2002<br>alopez : 3/13/2002<br>mgross : 2/12/2002<br>carol : 2/5/2001<br>carol : 2/1/2001<br>carol : 1/11/2001<br>cwells : 1/11/2001<br>cwells : 1/11/2001<br>terry : 1/4/2001<br>alopez : 4/10/2000<br>mgross : 3/30/2000<br>mgross : 12/3/1999<br>terry : 12/3/1999<br>carol : 11/9/1999<br>carol : 11/8/1999<br>carol : 11/4/1999<br>carol : 10/20/1999<br>mgross : 9/13/1999<br>mgross : 9/13/1999<br>mgross : 9/10/1999<br>terry : 8/21/1998<br>dkim : 7/21/1998<br>mark : 9/23/1997<br>terry : 9/19/1997<br>mark : 1/6/1997<br>mark : 11/11/1996<br>mark : 3/22/1996<br>terry : 3/18/1996<br>mark : 1/31/1996<br>terry : 1/30/1996<br>terry : 1/24/1996<br>carol : 11/8/1994<br>davew : 6/27/1994<br>mimadm : 6/25/1994<br>terry : 5/13/1994<br>pfoster : 3/31/1994<br>carol : 12/20/1993
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<span class="mim-font">
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<strong>#</strong> 115200
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CARDIOMYOPATHY, DILATED, 1A; CMD1A
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<em>Alternative titles; symbols</em>
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CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1<br />
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CARDIOMYOPATHY, IDIOPATHIC DILATED<br />
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CARDIOMYOPATHY, FAMILIAL IDIOPATHIC<br />
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CARDIOMYOPATHY, CONGESTIVE
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<strong>SNOMEDCT:</strong> 53043001;
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<strong>ORPHA:</strong> 154, 300751;
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<strong>DO:</strong> 0110425;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1q22
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Cardiomyopathy, dilated, 1A
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<span class="mim-font">
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115200
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Autosomal dominant
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<span class="mim-font">
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3
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LMNA
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<span class="mim-font">
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150330
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dilated cardiomyopathy-1A (CMD1A) is caused by heterozygous mutation in the lamin A/C gene (LMNA; 150330) on chromosome 1q22.</p>
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<strong>Description</strong>
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<p>Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010). </p><p>Olson and Keating (1996) noted that the causes of CMD include myocarditis, coronary artery disease, systemic diseases, and myocardial toxins; idiopathic dilated cardiomyopathy in which these causes are excluded represents approximately one-half of all cases. Idiopathic dilated cardiomyopathy occurs with a prevalence of about 36.5 per 100,000; it accounts for more than 10,000 deaths in the U.S. annually and is the primary indication for cardiac transplantation. </p><p>Seidman and Seidman (2001) reviewed the clinical and genetic heterogeneity of dilated cardiomyopathy. </p><p>Dilated cardiomyoopathy-1A (CMD1A) is an autosomal dominant disorder with typical onset between the ages of 30 and 40. In contrast to most other forms of familial CMD, sudden cardiac death may be the first manifestaton even in the absence of systolic dysfunction, owing to malignant arrhythmias such as ventricular tachycardia and fibrillation (summary by Lee et al., 2019). </p><p><strong><em>Genetic Heterogeneity of Dilated Cardiomyopathy</em></strong></p><p>
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Mutations in many other genes have been found to cause different forms of autosomal dominant dilated cardiomyopathy. These include CMD1C (601493), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene (605906) on 10q23; CMD1D (601494), caused by mutation in the TNNT2 gene (191045) on 1q32; CMD1E (601154), caused by mutation in the SCN5A gene (600163) on 3p22; CMD1G (604145), caused by mutation in the TTN gene (188840) on 2q31; CMD1I (604765), caused by mutation in the DES gene (125660) on 2q35; CMD1J (605362), caused by mutation in the EYA4 gene (603550) on 6q23; CMD1L (606685), caused by mutation in the SGCD gene (601411) on 5q33; CMD1M (607482), caused by mutation in the CSRP3 gene (600824) on 11p15; CMD1O (608569), caused by mutation in the ABCC9 gene (601439) on 12p12; CMD1P (609909), caused by mutation in the PLN gene (172405) on 6q22; CMD1R (613424), caused by mutation in the ACTC gene (102540) on 15q14; CMD1S (613426), caused by mutation in the MYH7 gene (160760) on 14q12; CMD1U (613694), caused by mutation in the PSEN1 gene (104311) on 14q24; CMD1V (613697), caused by mutation in the PSEN2 gene (600759) on 1q42; CMD1W (611407), caused by mutation in the gene encoding metavinculin (VCL; 193065) on 10q22; CMD1X (611615), caused by mutation in the gene encoding fukutin (FKTN; 607440) on 9q31; CMD1Y (611878), caused by mutation in the TPM1 gene (191010) on 15q22; CMD1Z (611879), caused by mutation in the TNNC1 gene (191040) on 3p21; CMD1AA (612158), caused by mutation in the ACTN2 gene (102573) on 1q43; CMD1BB (612877), caused by mutation in the DSG2 gene (125671) on 18q12; CMD1CC (613122), caused by mutation in the NEXN gene (613121) on 1p31; CMD1DD (613172), caused by mutation in the RBM20 gene (613171) on 10q25; CMD1EE (613252), caused by mutation in the MYH6 gene (160710) on 14q12; CMD1FF (613286), caused by mutation in the TNNI3 gene (191044) on 19q13; CMD1GG (613642), caused by mutation in the SDHA gene (600857) on 5p15; CMD1HH (613881), caused by mutation in the BAG3 gene (603883) on 10q26; CMD1II (615184), caused by mutation in the CRYAB gene (123590) on 6q21; CMD1JJ (615235), caused by mutation in the LAMA4 gene (600133) on 6q21; CMD1KK (615248), caused by mutation in the MYPN gene (608517) on 10q21; CMD1LL (615373), caused by mutation in the PRDM16 gene (605557) on 1p36; CMD1MM (see 615396), caused by mutation in the MYBPC3 gene (600958) on 11p11; CMD1NN (615916), caused by mutation in the RAF1 gene (164760) on 3p25; CMD1OO (620247), caused by mutation in the VEZF1 gene (606747) on chromosome 17q22; and CMD1PP (see 617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32.</p><p>Several additional loci for autosomal dominant familial dilated cardiomyopathy have been mapped: CMD1B (600884) on 9q13; CMD1H (604288) on 2q14-q22; CMD1K (605582) on 6q12-q16; and CMD1Q (609915) on 7q22.3-q31.1.</p><p>Autosomal recessive CMD includes CMD2A (611880), caused by mutation in the TNNI3 gene (191044) on 19q13; CMD2B (614672), caused by mutation in the GATAD1 gene (614518) on 7q21; CMD2C (618189), caused by mutation in the PPCS gene (609853) on 1p34; CMD2D (619371), caused by mutation in the RPL3L gene (617416) on 16p13; CMD2E (619492), caused by mutation in the JPH2 gene (605267) on chromosome 20q13; CMD2F (619747), caused by mutation in the BAG5 gene (603885) on chromosome 14q32; CMD2G (619897), caused by mutation in the LMOD2 gene (608006) on chromosome 7q31; CMD2H (620203), caused by mutation in the GET3 gene (601913) on chromosome 19p13; CMD2I (620462), caused by mutation in the CAP2 gene (618385) on chromosome 6p22; CMD2J (620635), caused by mutation in the FLII gene (600362) on chromosome 17p11; and CMD2K (620894), caused by mutation in the GCOM1 gene (see 614071) on chromosome 15q21.</p><p>An X-linked form of CMD (CMD3B; 302045) is caused by mutation in the DMD gene (300377). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome (302060).</p><p><strong><em>Reclassified Forms of CMD</em></strong></p><p>
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The symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy (601419).</p><p>The symbol CMD1N (see 607487) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene (604488.0003); this variant has been reclassified as a variant of unknown significance.</p><p>The symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene (188380.0001); this variant has been reclassified as a variant of unknown significance.</p>
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<strong>Clinical Features</strong>
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<p>Fatkin et al. (1999) reported clinical features in 39 affected members of 5 families with cardiovascular disease, including 25 members (64%) with dilated cardiomyopathy associated with conduction system disease, and mutation in the LMNA gene. The age at onset and severity of left ventricular dysfunction within each family with dilated cardiomyopathy were variable; impairment of left ventricular contraction was mild to moderate in 12 individuals, but heart failure developed in 13. Progression of disease was rapid in 6 members, who required cardiac transplantation within 3 years after diagnosis; 2 of these 6 died from accelerated coronary atherosclerosis in the transplanted heart. Eleven died suddenly between the ages of 30 and 59 years; the only prior arrhythmia of one of these was paroxysmal atrial tachyarrhythmia without electrocardiographic evidence of atrioventricular conduction delay. </p><p>Brodsky et al. (2000) reported 5 patients from a family (family MDDC1) with severe dilated cardiomyopathy with variable skeletal muscle involvement. Cardiac features included ventricular tachycardia, paroxysmal atrial fibrillation, premature atrial contractions, second- and third-degree atrioventricular block, and left bundle branch block. Two brothers had heart failure; one (II-5) died suddenly at age 30 and the other (II-1) had heart transplantation by age 22. Endocardial biopsies performed on the brothers showed significant abnormalities compatible with acute myocarditis in patient II-5 and healing myocarditis in patient II-1. </p><p>Sebillon et al. (2003) reported patients from 3 unrelated families, including a family previously reported by Charniot et al. (2003), with dilated cardiomyopathy and mutation in the LMNA gene. The phenotype in family A was characterized by early atrial fibrillation preceding or coexisting with DCM, without significant AV block and without neuromuscular abnormalities. The phenotype in family B was characterized by DCM with conduction defect and/or with mild skeletal myopathy. The phenotype in family C was characterized by DCM with conduction defect or atrial/ventricular arrhythmias and with skeletal muscular dystrophy of the quadriceps muscles. The prognosis in the 3 families was relatvely poor and was characterized by 11 cardiac deaths and 2 heart transplantations. Cumulative survival at 50 and 65 years was 73% and 48%, respectively. </p><p>Malek et al. (2011) reported 2 sibs with dilated cardiomyopathy and mutation in the LMNA gene. The 23-year-old proband had a history of paroxysmal atrioventricular nodal reentrant tachycardia and was found by echocardiogram to have dilation of the left ventricle and global hypokinesis. Cardiac MRI showed discrete regional areas of akinesis with muscle thinning in the left ventricle and marked hypertrabeculation in dysfunctional regions, as well as evidence of fibrosis. His sister had sinus bradycardia and supraventricular and ventricular arrhythmias, but normal echocardiogram and cardiac MRI. The sibs' father and paternal aunt had both died of dilated cardiomyopathy. </p><p><strong><em>Early Studies of Dilated Cardiomyopathy without Known Genetic Defect</em></strong></p><p>
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Whitfield (1961) described a family in which 10 members were suffering or had died from cardiomyopathy and 6 others were probably affected. Although both males and females were affected, transmission seemingly occurred only through females. </p><p>Schrader et al. (1961) described 2 sisters with familial idiopathic cardiomegaly. Almost certainly the mother, who died at age 34, and probably 1 brother, who died at age 16, had the same condition. In the family reported by Battersby and Glenner (1961), affected persons were limited to 1 sibship and deposits of a nonmetachromatic, diastase-resistant, PAS-positive polysaccharide were described in the myocardium. </p><p>Kariv et al. (1966) observed 6 affected persons in 3 generations. In 2 of these persons, Adams-Stokes attacks required an artificial pacemaker. The affected males showed significant increase in the serum levels of multiple muscle-derived enzymes. Heterogeneity was suggested by the finding of normal serum enzyme levels in affected members of a second family. </p><p>Moller et al. (1979) described an autosomal dominant form of congestive cardiomyopathy. The earliest sign of the disease was arrhythmia and/or conduction defects. Symptoms of pump failure had their onset in adulthood. Three members of the extensively affected kindred had died suddenly. Septal hypertrophy was found in 2 affected persons. </p><p>Fragola et al. (1988) studied 44 first-degree relatives of 12 probands with idiopathic dilated cardiomyopathy. Affected relatives were identified in 4 of 12 families. In each case, the affected relatives were sibs. This may be due to a late age of onset for expression of genetic factors involved in the etiology of this condition. </p><p>O'Connell et al. (1984) used endomyocardial biopsy and gallium-67 scans in patients with dilated cardiomyopathy to demonstrate a subset of patients with myocardial inflammation. Histologic confirmation was found at autopsy. A defect in suppressor lymphocyte function was found in 1 patient, who showed improvement with immunosuppressive therapy. In 1 family, 5 persons in 3 generations were affected; in another, a father and 2 brothers were affected. Battersby and Glenner (1961) reported striking pericardial effusion in a family with cardiomyopathy. Other early reports (e.g., Evans, 1949) have commented on inflammatory changes found at necropsy. Pericardial effusion occurs episodically with the iron-overload cardiomyopathy of multitransfused thalassemia and occurs also in the cardiomyopathy of Friedreich ataxia (229300). </p><p>Ozick et al. (1984) reported identical twin sisters with congestive cardiomyopathy and autoimmune thyroid disease. Both had antithyroid microsomal antibodies and cytolytic antiheart myolemmal antibodies. The postpartum state may have been a factor in one of the twins; both cardiomyopathy and autoimmune thyroid disease may become clinically apparent in the postpartum period. Gardner et al. (1985) evaluated a kindred in which 12 persons had cardiomegaly with poor ventricular function and/or dysrhythmia. The disorder was evident by echocardiogram in a 6-month-old infant. Skeletal muscle biopsies showed subtle myopathic alterations. The pedigree, spanning 5 generations, was consistent with autosomal dominant inheritance. Gardner et al. (1987) described a family in which multiple members in 3 and probably 4 generations had dilated cardiomyopathy with overt clinical onset between the fourth and seventh decades. Dysrhythmia was frequent. They concluded that there might be an associated skeletal myopathy manifested by very mild proximal weakness or detectable only on biopsy. MacLennan et al. (1987) described 8 affected individuals, 4 of whom were males in 3 generations. Average age at presentation was 39.5 years. Average time to death from onset of symptoms suggestive of cardiomyopathy in 6 affected members was 16 months. One member died suddenly after being asymptomatic. The myocardium showed variation in muscle fiber size and interstitial fibrosis. </p><p>Graber et al. (1986) described a large kindred with an autosomal dominant form of disease of the cardiac conduction system and of the myocardium. Stage I occurred in the second and third decades and was characterized by absence of symptoms, normal heart size, sinus bradycardia, and premature atrial contractions. Stage II was marked by first-degree AV block in the third and fourth decades. Stage III occurred in the fourth and fifth decades and was accompanied by chest pain, fatigue, lightheadedness, and advanced AV block, followed by the development of atrial fibrillation or flutter. Stage IV, in the fifth and sixth decades of life, was characterized by congestive heart failure and recurrent ventricular arrhythmias. Right ventricular endomyocardial biopsy specimens showed progressive changes. At autopsy in the proband, the atrial changes were more severe than the ventricular ones. This suggested that the disorder discussed in entry 108770 is the same as this condition. While there was a range in the phenotypic expression of the inherited gene defect in this kindred, the dilated cardiomyopathy was less impressive than the dysrhythmia. Arrhythmias were the earliest manifestation of the disease (in the second to third decade). </p><p>In studies of the first-degree relatives of 59 index cases with idiopathic dilated cardiomyopathy, Michels et al. (1992) found that 18 relatives from 12 families had dilated cardiomyopathy. Thus, 12 of the 59 index patients (20.3%) had familial disease. No differences in age, sex, severity of disease, exposure to selected environmental factors, or electrocardiographic or echocardiographic features were detected between the index patients with familial disease and those with nonfamilial disease. A noteworthy finding was that 22 of 240 healthy relatives (9.2%) with normal ejection fractions had increased left ventricular diameters during systole or diastole (or both), as compared with 2 of 112 healthy control subjects (1.8%) who were studied separately. </p><p>Csanady et al. (1995) compared 31 familial and 209 nonfamilial cases of dilated cardiomyopathy. They concluded that the familial form is more malignant: it occurs at an earlier age and progresses more rapidly than the nonfamilial form. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Schmidt et al. (1988) studied familial dilated cardiomyopathy in 6 families. The familial nature of the disorder was not readily apparent in 3 of these families until thorough family investigations were performed. The authors suggested that the family history should be reviewed in all patients with dilated cardiomyopathy and that further investigation of relatives should be performed if there are cases of unexplained heart disease, sudden unexpected death, or syncopal episodes. Echocardiography is a convenient noninvasive tool for these investigations. Early diagnosis is indicated for 2 reasons: treatment of significant arrhythmias may prevent sudden unexpected death, and genetic counseling can be provided. </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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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Meune et al. (2006) investigated the efficacy of implantable cardioverter-defibrillators (ICDs) in the primary prevention of sudden death in patients with cardiomyopathy due to lamin A/C gene mutations. Patients referred for permanent cardiac pacing were systematically offered the implantation of an ICD. The patients were enrolled solely on the basis of the presence of lamin A/C mutations associated with cardiac conduction defects. Indications for pacemaker implantation were progressive conduction block and sinus block. In all, 19 patients were treated. Meune et al. (2006) concluded that ICD implantation in patients with lamin A/C mutations who are in need of a pacemaker is effective in treating possibly lethal tachyarrhythmias, and that implantation of an ICD, rather than a pacemaker, should be considered for such patients. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lee et al. (2019) modeled LMNA-related dilated cardiomyopathy (CMD) in vitro using patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs). These cardiomyocytes were developed from a large family cohort, members of which carried a frameshift mutation in LMNA that led to early termination of translation. Three of the carriers presented with atrial fibrillation that progressed to atrioventricular block, ventricular tachycardia, and CMD. Electrophysiologic studies showed that the mutant iPSC-CMs displayed aberrant calcium homeostasis that led to arrhythmias at the single-cell level. Mechanistically, Lee et al. (2019) showed that the platelet-derived growth factor (PDGF) signaling pathway is activated in mutant iPSC-CMs compared to isogenic control iPSC-CMs. Conversely, pharmacologic and molecular inhibition of the PDGF signaling pathway ameliorated the arrhythmic phenotypes of mutant iPSC-CMs in vitro. The findings of Lee et al. (2019) suggested that the activation of the PDGF pathway contributes to the pathogenesis of LMNA-related DCM, and that PDGFRB (173410) is a potential therapeutic target. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage studies, Kass et al. (1994) demonstrated linkage of the disease locus to polymorphic loci near the centromere of chromosome 1; maximum multipoint lod score = 13.2 in the interval between D1S305 and D1S176. Based on the disease phenotype and the map location, Kass et al. (1994) speculated that the gap junction protein connexin-40 (121013) is a candidate for the site of mutations that result in conduction system disease and dilated cardiomyopathy. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of dilated cardiomyopathy-1A in the families reported by Fatkin et al. (1999) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</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>In a case-control study of idiopathic dilated cardiomyopathy in Baltimore, a roughly 3-fold increase in risk was observed among blacks after adjustment for potential confounding variables (Coughlin et al., 1990). The increased frequency of dilated cardiomyopathy in black males was the basis in the past of the designation 'Osler-2 myocarditis'; Osler-2 was the black male ward at The Johns Hopkins Hospital. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 5 of 11 families with autosomal dominant dilated cardiomyopathy and conduction system defects, Fatkin et al. (1999) identified 5 heterozygous missense mutations in the LMNA gene (150330.0005-150330.0009). Each mutation caused heritable, progressive conduction system disease (sinus bradycardia, atrioventricular conduction block, or atrial arrhythmias) and dilated cardiomyopathy. Heart failure and sudden death occurred frequently within these families. No family members with mutations had either joint contractures or skeletal myopathy. Furthermore, serum creatine kinase levels were normal in family members with mutations in the lamin rod domain, but mildly elevated in some family members with a defect in the tail domain of lamin C. The findings indicated that the lamin A/C intermediate filament protein plays an important role in cardiac conduction and contractility. In an editorial accompanying the report of Fatkin et al. (1999), Graham and Owens (1999) tabulated the chromosomal locations of the known loci responsible for inherited forms of dilated cardiomyopathy. </p><p>Brodsky et al. (2000) presented a large family with a severe autosomal dominant dilated cardiomyopathy with an atrioventricular conduction defect in some affected members. In addition, some affected individuals had skeletal muscle symptoms varying from minimal weakness to a mild limb-girdle muscular dystrophy. One individual had a pattern of skeletal muscle involvement that the authors considered consistent with mild Emery-Dreifuss muscular dystrophy. Affected individuals were heterozygous for a single nucleotide deletion in the lamin A/C gene (150330.0013). The authors highlighted the wide range in phenotype arising from this mutation. </p><p>Taylor et al. (2003) screened the LMNA gene in 40 families with familial CMD and 9 patients with sporadic CMD and identified mutations in 3 families (see, e.g., 150330.0017) and 1 sporadic patient (S573L; 150330.0041). There was significant phenotypic variability in the patients studied, but the presence of skeletal muscle involvement, supraventricular arrhythmia, conduction defects, and 'mildly' dilated cardiomyopathy were predictors of LMNA mutations. The LMNA mutation carriers had a significantly poorer cumulative survival compared with noncarrier CMD patients, with an event-free survival at age 45 years of 31% versus 75%, respectively. </p><p>In affected members of a French family with dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias and skeletal muscular dystrophy of the quadriceps muscles, Charniot et al. (2003) identified an arg377-to-his mutation in the LMNA gene (R377H; 150330.0017). The same mutation had been reported in patients with limb-girdle muscular dystrophy type-1B (see EDMD2, 181350), a slowly progressive muscular dystrophy with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. Charniot et al. (2003) suggested that factors other than the R377H mutation may have influenced the phenotypic expression in this family. </p><p>In 3 families with dilated cardiomyopathy with conduction defects, including the family previously reported by Charniot et al. (2003), Sebillon et al. (2003) identified 3 different mutations in the LMNA gene (150330.0017, 150330.0028, 150330.0029). In 1 family, the phenotype was characterized by early-onset atrial fibrillation preceding or coexisting with dilated cardiomyopathy. </p><p>Kimura (2011) reviewed the contribution of genetics in the pathogenesis of dilated cardiomyopathy and discussed functional aspects of sarcolemmal, contractile element, Z disc element, sarcoplasmic element, and nuclear lamina mutations. The author noted that there was no major disease gene for Japanese CMD patients reported to date. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
Mutation in the ILK gene (see 602366.0001) is a possible cause of CMD, as is mutation in the ITGB1BP2 gene (see 300332.0001).</p><p>For discussion of a possible association between variation in the SOD2 gene (147460) and nonfamilial dilated cardiomyopathy or lethal neonatal dilated cardiomyopathy, see 147460.0001 and 147460.0002, respectively.</p><p>For discussion of a possible association between dilated cardiomyopathy and variation in the MYBPHL gene, see 619807.0001.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gupta et al. (2010) analyzed the LMNA gene in heart samples from 25 unrelated CMD patients and identified 3 heterozygous missense mutations in 3 patients as well as a heterozygous deletion of exons 3 to 12 in 1 patient. The LMNA deletion and 1 of the missense mutations were associated with major cardiomyocyte nuclear envelope abnormalities, whereas the other 2 missense mutations were found in patients without specific nuclear envelope abnormalities. Gupta et al. (2010) stated that they did not find any evidence of a genotype/phenotype relationship between the onset and severity of CMD, the presence of nuclear abnormalities, and the presence or absence of LMNA mutations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Elliott et al. (2003) generated HLA-DQ8 transgenic AI-beta knockout NOD mice that did not show insulitis or diabetes but developed dilated cardiomyopathy. The constellation of findings of spontaneously arising destructive focal lymphocytic infiltrates within the myocardium, rising titers of circulating anticardiac autoantibodies, dilation of the cardiac chambers, and gradual progression to end-stage heart failure bore a striking resemblance to clinical features in humans with idiopathic dilated cardiomyopathy. Elliott et al. (2003) concluded that this transgenic strain provides a highly relevant animal model for human autoimmune myocarditis and postinflammatory dilated cardiomyopathy. </p><p>Mounkes et al. (2005) generated mice expressing the human N195K (150330.0007) mutation and observed characteristics consistent with CMD1A. Continuous electrocardiographic monitoring of cardiac activity demonstrated that N195K-homozygous mice died at an early age due to arrhythmia. Immunofluorescence and Western blot analysis showed that Hf1b/Sp4 (600540), connexin-40 (GJA5; 121013), and connexin-43 (GJA1; 121014) were misexpressed and/or mislocalized in N195K-homozygous mouse hearts. Desmin staining revealed a loss of organization at sarcomeres and intercalated disks. Mounkes et al. (2005) hypothesized that mutations within the LMNA gene may cause cardiomyopathy by disrupting the internal organization of the cardiomyocyte and/or altering the expression of transcription factors essential to normal cardiac development, aging, or function. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Early Classifications</em></strong></p><p>
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Boyd et al. (1965) suggested that there may be 3 forms of cardiomyopathy: (1) a form with predominant fibrosis, (2) a form with predominant hypertrophy (see ventricular hypertrophy, hereditary; 192600), and (3) a form with deposits of a nonmetachromatic, diastase-resistant, PAS-positive polysaccharide. </p><p>Rywlin et al. (1969) favored the view that obstructive and nonobstructive forms of familial cardiopathy are different expressions of a single entity. Classification into 'hypertrophic' and 'congestive' clinical types by Goodwin (1970) implies the same. Sommer et al. (1972) took an opposite view, i.e., that there is a separate nonobstructive familial cardiomyopathy. They described an Amish family with affected persons in 3 generations. Severity varied widely. The most severely affected pursued a rapidly fatal course whereas others manifested mainly conduction defects compatible with long survival. </p><p><strong><em>Inheritance</em></strong></p><p>
|
|
Machida et al. (1971) described a Japanese family with affected persons in 2 and perhaps 3 generations with male-to-male transmission. </p><p>Emanuel et al. (1971) suggested that both dominant and recessive forms may exist. </p><p>The possibility of an autosomal recessive form of congestive cardiomyopathy was raised by Yamaguchi et al. (1977), who found an astoundingly high rate of parental consanguinity (about 64%) and a segregation ratio of 0.196 consistent with autosomal recessive inheritance.</p><p>Koike et al. (1987) described 2 families with dilated cardiomyopathy. In 1 of these families, the mode of inheritance was autosomal dominant; in the other, it appeared to be autosomal recessive. In both families, the pattern of inheritance was consistent with linkage to the HLA locus; however, because the families were small, the lod scores were low. From linkage studies in 12 families, Olson et al. (1995) excluded genetic linkage between the disease phenotype and a 21-cM region spanning the HLA cluster in at least 60% of the families. </p><p>Among 100 patients with dilated cardiomyopathy, McKenna et al. (1997) found that familial prevalence was definite in 14 of 56 (25%) and possible in 25 of 56 (45%). The HLA-DR4 frequency in the 100 patients with dilated cardiomyopathy was similar to that in 9,000 controls; however, the DR4 subtype was significantly more common in the 25 probands with a familial tendency to dilated cardiomyopathy than in the 31 probands with nonfamilial dilated cardiomyopathy. McKenna et al. (1997) concluded that there is an HLA-linked predisposition to familial dilated cardiomyopathy. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
|
Barry and Hall (1962); Biorck and Orinius (1964); Bishop et al.
|
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(1962); Michels et al. (1989)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Barry, M., Hall, M.
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<strong>Familial cardiomyopathy.</strong>
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Brit. Heart J. 24: 613-624, 1962.
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[PubMed: 13969597]
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[Full Text: https://doi.org/10.1136/hrt.24.5.613]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Battersby, E. J., Glenner, G. G.
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<strong>Familial cardiomyopathy.</strong>
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Am. J. Med. 30: 382-391, 1961.
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[PubMed: 13687796]
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[Full Text: https://doi.org/10.1016/0002-9343(61)90048-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Biorck, G., Orinius, E.
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<strong>Familial cardiomyopathies.</strong>
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Acta Med. Scand. 176: 407-424, 1964.
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[PubMed: 14221653]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bishop, J. M., Campbell, M., Jones, E. W.
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<strong>Cardiomyopathy in four members of a family.</strong>
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Brit. Heart J. 24: 715-728, 1962.
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[PubMed: 13971225]
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[Full Text: https://doi.org/10.1136/hrt.24.6.715]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Boyd, D. L., Mishkin, M. E., Feigenbaum, H., Genovese, P. D.
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<strong>Three families with familial cardiomyopathy.</strong>
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Ann. Intern. Med. 63: 386-401, 1965.
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[PubMed: 14327505]
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[Full Text: https://doi.org/10.7326/0003-4819-63-3-386]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brodsky, G. L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C., Mestroni, L.
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<strong>Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.</strong>
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Circulation 101: 473-476, 2000.
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[PubMed: 10662742]
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[Full Text: https://doi.org/10.1161/01.cir.101.5.473]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Charniot, J.-C., Pascal, C., Bouchier, C., Sebillon, P., Salama, J., Duboscq-Bidot, L., Peuchmaurd, M., Desnos, M., Artigou, J.-Y., Komajda, M.
|
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<strong>Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.</strong>
|
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Hum. Mutat. 21: 473-481, 2003.
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[PubMed: 12673789]
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[Full Text: https://doi.org/10.1002/humu.10170]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Coughlin, S. S., Szklo, M., Baughman, K., Pearson, T. A.
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<strong>The epidemiology of idiopathic dilated cardiomyopathy in a biracial community.</strong>
|
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Am. J. Epidemiol. 131: 48-56, 1990.
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[PubMed: 2293752]
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[Full Text: https://doi.org/10.1093/oxfordjournals.aje.a115484]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Csanady, M., Hogye, M., Kallai, A., Forster, T., Szarazajtai, T.
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<strong>Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms.</strong>
|
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Brit. Heart J. 74: 171-173, 1995.
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[PubMed: 7546997]
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[Full Text: https://doi.org/10.1136/hrt.74.2.171]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Elliott, J. F., Liu, J., Yuan, Z.-N., Bautista-Lopez, N., Wallbank, S. L., Suzuki, K., Rayner, D., Nation, P., Robertson, M. A., Liu, G., Kavanagh, K. M.
|
|
<strong>Autoimmune cardiomyopathy and heart block develop spontaneously in HLA-DQ8 transgenic IA-beta knockout NOD mice.</strong>
|
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Proc. Nat. Acad. Sci. 100: 13447-13452, 2003.
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[PubMed: 14570980]
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[Full Text: https://doi.org/10.1073/pnas.2235552100]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Emanuel, R., Withers, R., O'Brien, K.
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<strong>Dominant and recessive modes of inheritance in idiopathic cardiomyopathy.</strong>
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Lancet 298: 1065-1067, 1971. Note: Originally Volume II.
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[PubMed: 4106916]
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[Full Text: https://doi.org/10.1016/s0140-6736(71)90383-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Evans, W.
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<strong>Familial cardiomegaly.</strong>
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Brit. Heart J. 11: 68-82, 1949.
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[PubMed: 18113470]
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[Full Text: https://doi.org/10.1136/hrt.11.1.68]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Jr., Spudich, S., De Girolami, U., Seidman, J. G., Seidman, C. E.
|
|
<strong>Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.</strong>
|
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New Eng. J. Med. 341: 1715-1724, 1999.
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[PubMed: 10580070]
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[Full Text: https://doi.org/10.1056/NEJM199912023412302]
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</p>
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</li>
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<li>
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Marla J. F. O'Neill - updated : 06/04/2021<br>Ada Hamosh - updated : 12/04/2019<br>Marla J. F. O'Neill - updated : 4/21/2015<br>Marla J. F. O'Neill - updated : 4/30/2014<br>Marla J. F. O'Neill - updated : 1/30/2014<br>Marla J. F. O'Neill - updated : 9/4/2013<br>Marla J. F. O'Neill - updated : 5/16/2013<br>Marla J. F. O'Neill - updated : 6/5/2012<br>Marla J. F. O'Neill - updated : 11/15/2011<br>Marla J. F. O'Neill - updated : 6/10/2011<br>Marla J. F. O'Neill - updated : 4/8/2011<br>Marla J. F. O'Neill - updated : 11/9/2010<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Marla J. F. O'Neill - updated : 2/4/2010<br>George E. Tiller - updated : 11/19/2008<br>Marla J. F. O'Neill - updated : 6/30/2008<br>Marla J. F. O'Neill - updated : 3/6/2008<br>Marla J. F. O'Neill - updated : 11/21/2007<br>Victor A. McKusick - updated : 11/27/2006<br>Victor A. McKusick - updated : 2/15/2006<br>Marla J. F. O'Neill - updated : 10/14/2005<br>Marla J. F. O'Neill - updated : 2/7/2005<br>Marla J. F. O'Neill - updated : 6/29/2004<br>Ada Hamosh - updated : 3/24/2003<br>Victor A. McKusick - updated : 8/22/2002<br>Victor A. McKusick - updated : 1/4/2001<br>Paul Brennan - updated : 4/10/2000<br>Victor A. McKusick - updated : 12/3/1999<br>Victor A. McKusick - updated : 9/19/1997
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Victor A. McKusick : 6/23/1986
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carol : 11/07/2024<br>alopez : 07/15/2024<br>carol : 03/20/2024<br>alopez : 11/28/2023<br>alopez : 08/03/2023<br>alopez : 06/16/2023<br>carol : 06/14/2023<br>alopez : 02/15/2023<br>carol : 05/04/2022<br>alopez : 04/12/2022<br>alopez : 02/10/2022<br>carol : 12/22/2021<br>alopez : 08/18/2021<br>carol : 06/04/2021<br>alopez : 10/19/2020<br>carol : 12/05/2019<br>alopez : 12/04/2019<br>carol : 11/15/2018<br>carol : 09/27/2018<br>alopez : 07/12/2018<br>carol : 02/07/2017<br>carol : 02/06/2017<br>carol : 02/06/2017<br>carol : 07/20/2016<br>carol : 07/19/2016<br>mgross : 04/24/2015<br>carol : 4/21/2015<br>alopez : 3/17/2015<br>carol : 5/1/2014<br>mcolton : 4/30/2014<br>carol : 1/30/2014<br>carol : 9/4/2013<br>carol : 8/20/2013<br>carol : 5/24/2013<br>carol : 5/16/2013<br>carol : 6/5/2012<br>terry : 6/5/2012<br>carol : 4/4/2012<br>alopez : 2/3/2012<br>carol : 11/15/2011<br>joanna : 10/28/2011<br>carol : 9/30/2011<br>wwang : 6/16/2011<br>terry : 6/10/2011<br>wwang : 4/8/2011<br>carol : 4/8/2011<br>alopez : 2/10/2011<br>alopez : 1/14/2011<br>alopez : 1/14/2011<br>wwang : 11/16/2010<br>terry : 11/11/2010<br>terry : 11/9/2010<br>carol : 6/7/2010<br>wwang : 2/26/2010<br>wwang : 2/15/2010<br>terry : 2/4/2010<br>wwang : 12/9/2009<br>wwang : 11/17/2009<br>wwang : 6/26/2009<br>carol : 2/24/2009<br>terry : 2/3/2009<br>terry : 1/9/2009<br>wwang : 11/19/2008<br>alopez : 7/1/2008<br>terry : 6/30/2008<br>carol : 3/6/2008<br>carol : 11/27/2007<br>carol : 11/26/2007<br>carol : 11/26/2007<br>carol : 11/26/2007<br>terry : 11/21/2007<br>carol : 9/4/2007<br>carol : 9/4/2007<br>alopez : 11/29/2006<br>terry : 11/27/2006<br>carol : 4/19/2006<br>carol : 2/24/2006<br>wwang : 2/24/2006<br>wwang : 2/23/2006<br>wwang : 2/22/2006<br>wwang : 2/21/2006<br>alopez : 2/15/2006<br>carol : 10/14/2005<br>carol : 10/14/2005<br>carol : 8/2/2005<br>tkritzer : 2/8/2005<br>terry : 2/7/2005<br>carol : 12/9/2004<br>carol : 6/29/2004<br>terry : 6/29/2004<br>carol : 6/17/2004<br>ckniffin : 4/15/2004<br>alopez : 4/6/2004<br>mgross : 9/18/2003<br>alopez : 3/24/2003<br>terry : 3/24/2003<br>mgross : 1/16/2003<br>mgross : 1/15/2003<br>carol : 11/12/2002<br>carol : 8/23/2002<br>terry : 8/22/2002<br>alopez : 3/13/2002<br>mgross : 2/12/2002<br>carol : 2/5/2001<br>carol : 2/1/2001<br>carol : 1/11/2001<br>cwells : 1/11/2001<br>cwells : 1/11/2001<br>terry : 1/4/2001<br>alopez : 4/10/2000<br>mgross : 3/30/2000<br>mgross : 12/3/1999<br>terry : 12/3/1999<br>carol : 11/9/1999<br>carol : 11/8/1999<br>carol : 11/4/1999<br>carol : 10/20/1999<br>mgross : 9/13/1999<br>mgross : 9/13/1999<br>mgross : 9/10/1999<br>terry : 8/21/1998<br>dkim : 7/21/1998<br>mark : 9/23/1997<br>terry : 9/19/1997<br>mark : 1/6/1997<br>mark : 11/11/1996<br>mark : 3/22/1996<br>terry : 3/18/1996<br>mark : 1/31/1996<br>terry : 1/30/1996<br>terry : 1/24/1996<br>carol : 11/8/1994<br>davew : 6/27/1994<br>mimadm : 6/25/1994<br>terry : 5/13/1994<br>pfoster : 3/31/1994<br>carol : 12/20/1993
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