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<title>
Entry
- #600858 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
- OMIM
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<span class="h4">#600858</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/600858"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS192600"> <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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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC) OR (PRKAG2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1768/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110312" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://omia.org/OMIA001194/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>DO:</strong> 0110312<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
600858
</span>
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
</span>
</h3>
</div>
<div>
<br />
</div>
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840">
7q36.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, hypertrophic 6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600858"> 600858 </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">
PRKAG2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> 602743 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="/phenotypicSeries/PS192600" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/600858" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/600858" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
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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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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertrophic cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195020003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195020003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233873004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233873004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45227007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45227007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/425.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551472</a>, <a href="https://bioportal.bioontology.org/search?q=C0340425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340425</a>, <a href="https://bioportal.bioontology.org/search?q=C0007194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span><br /> -
Wolff-Parkinson-White ventricular preexcitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74390002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74390002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001716</a>]</span><br /> -
Sinus bradycardia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49710005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49710005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2108107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2108107</a>, <a href="https://bioportal.bioontology.org/search?q=C5235162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5235162</a>, <a href="https://bioportal.bioontology.org/search?q=C0085610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001688" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001688</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001688" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001688</a>]</span><br /> -
Atrioventricular block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233917008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233917008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/426.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001678</a>]</span><br /> -
Left bundle branch block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164909002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164909002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63467002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63467002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2828132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2828132</a>, <a href="https://bioportal.bioontology.org/search?q=C0344420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344420</a>, <a href="https://bioportal.bioontology.org/search?q=C0023211&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023211</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011713</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011713</a>]</span><br /> -
Atrial fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49436004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49436004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164889003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164889003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926591</a>, <a href="https://bioportal.bioontology.org/search?q=C0004238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004238</a>, <a href="https://bioportal.bioontology.org/search?q=C0344434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span><br /> -
Enlarged myocytes without myofiber disarray <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275855</a>]</span><br /> -
Glycogen-containing cytosolic vacuoles within cardiomyocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275856&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275856</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Glycogenosis of skeletal muscle, mild (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275853&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275853</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Genetic heterogeneity (see <a href="/entry/192600">192600</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the protein kinase, AMP-activated, noncatalytic, gamma-2 gene (PRKAG2, <a href="/entry/602743#0001">602743.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Cardiomyopathy, familial hypertrophic
- <a href="/phenotypicSeries/PS192600">PS192600</a>
- 37 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/739?start=-3&limit=10&highlight=739"> 1p31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613876"> Cardiomyopathy, hypertrophic, 20 </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/613876"> 613876 </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>
</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/115195"> Cardiomyopathy, hypertrophic, 2 </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/115195"> 115195 </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/1/1828?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/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/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613765"> Cardiomyopathy, familial hypertrophic, 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/613765"> 613765 </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/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> Cardiomyopathy, familial hypertrophic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> CAV3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> 601253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/259?start=-3&limit=10&highlight=259"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608751"> Cardiomyopathy, hypertrophic, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/608751"> 608751 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160790"> MYL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160790"> 160790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/377?start=-3&limit=10&highlight=377"> 3p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613243"> Cardiomyopathy, hypertrophic, 13 </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/613243"> 613243 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> TNNC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> 191040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/900?start=-3&limit=10&highlight=900"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620236"> Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies </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/620236"> 620236 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611295"> KLHL24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611295"> 611295 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/193?start=-3&limit=10&highlight=193"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620734"> ?Cardiomyopathy, familial hypertrophic, 30, atrial </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/620734"> 620734 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605236"> CORIN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605236"> 605236 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/514?start=-3&limit=10&highlight=514"> 4q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613838"> Cardiomyopathy, hypertrophic, 16 </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/613838"> 613838 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605602"> MYOZ2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605602"> 605602 </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/613874"> Cardiomyopathy, hypertrophic, 18 </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/613874"> 613874 </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/7/265?start=-3&limit=10&highlight=265"> 7p12.1-q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> Cardiomyopathy, hypertrophic, 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> 614676 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> CMH21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> 614676 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Cardiomyopathy, familial restrictive 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/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Arrhythmogenic right ventricular dysplasia, familial </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/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Cardiomyopathy, familial hypertrophic, 26 </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/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600858"> Cardiomyopathy, hypertrophic 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/600858"> 600858 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> PRKAG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> 602743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, dilated, 1KK </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, familial restrictive, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<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/613255"> Cardiomyopathy, hypertrophic, 15 </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/613255"> 613255 </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"> 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/10/355?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/11/233?start=-3&limit=10&highlight=233"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612124"> Cardiomyopathy, hypertrophic, 12 </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/612124"> 612124 </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/115197"> Cardiomyopathy, hypertrophic, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/115197"> 115197 </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/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608758"> Cardiomyopathy, hypertrophic, 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/608758"> 608758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/90?start=-3&limit=10&highlight=90"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613251"> Cardiomyopathy, hypertrophic, 14 </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/613251"> 613251 </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/192600"> Cardiomyopathy, hypertrophic, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/192600"> 192600 </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/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612098"> Cardiomyopathy, hypertrophic, 11 </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/612098"> 612098 </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/115196"> Cardiomyopathy, hypertrophic, 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/115196"> 115196 </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/15/472?start=-3&limit=10&highlight=472"> 15q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618052"> Cardiomyopathy, familial hypertrophic 27 </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/618052"> 618052 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617608"> ALPK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617608"> 617608 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607487"> Cardiomyopathy, hypertrophic, 25 </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/607487"> 607487 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> TCAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> 604488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/142?start=-3&limit=10&highlight=142"> 18q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619402"> Cardiomyopathy, familial hypertrophic, 28 </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/619402"> 619402 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609691"> FHOD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609691"> 609691 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1156?start=-3&limit=10&highlight=1156"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613690"> Cardiomyopathy, hypertrophic, 7 </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/613690"> 613690 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> TNNI3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> 191044 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/190?start=-3&limit=10&highlight=190"> 20q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> Cardiomyopathy, hypertrophic, 1, digenic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606566"> MYLK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606566"> 606566 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/309?start=-3&limit=10&highlight=309"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613873"> Cardiomyopathy, hypertrophic, 17 </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/613873"> 613873 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> JPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> 605267 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that familial hypertrophic cardiomyopathy-6 (CMH6) is caused by heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2; <a href="/entry/602743">602743</a>) on chromosome 7q36.</p><p>Mutation in the PRKAG2 gene also causes the Wolff-Parkinson-White preexcitation syndrome (<a href="/entry/194200">194200</a>) in isolation or in association with cardiac hypertrophy.</p><p>For a phenotypic general description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (<a href="/entry/192600">192600</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
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<p>Mutations in the PRKAG2 gene (<a href="/entry/602743">602743</a>) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by <a href="#7" class="mim-tip-reference" title="Burwinkel, B., Scott, J. W., Buhrer, C., van Landeghem, F. K. H., Cox, G. F., Wilson, C. J., Hardie, D. G., Kilimann, M. W. &lt;strong&gt;Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma-2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 76: 1034-1049, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15877279/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15877279&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15877279[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/430840&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15877279">Burwinkel et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15877279" 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="Laforet, P., Richard, P., Said, M. A., Romero, N. B., Lacene, E., Leroy, J.-P., Baussan, C., Hogrel, J.-Y., Lavergne, T., Wahbi, K., Hainque, B., Duboc, D. &lt;strong&gt;A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.&lt;/strong&gt; Neuromusc. Disord. 16: 178-182, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16487706/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16487706&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2005.12.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16487706">Laforet et al. (2006)</a> studied a 38-year-old man who presented after 4 episodes of 'faintness' after swimming and had a 15-year history of lasting muscle stiffness without weakness in the arms and legs after prolonged exercise. He had 2 sibs who were asymptomatic, but a paternal aunt died suddenly at 65 years of age. Electrocardiogram showed sinus bradycardia with high-degree atrioventricular block and left bundle branch block, and a pacemaker was implanted. Echocardiography revealed hypertrophic cardiomyopathy. Limb muscle bulk and strength were normal on clinical examination, but deltoid muscle biopsy revealed sarcolemmal vacuoles in 10% of muscle fibers with intense periodic acid-Schiff staining, and ultrastructural analysis confirmed the presence of nonlysosomal glycogen accumulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16487706" 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 large family with 25 surviving individuals affected by familial hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome (WPW; <a href="/entry/194200">194200</a>), or both, <a href="#11" class="mim-tip-reference" title="MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L. H., McGarry, K., Rowland, E., McKenna, W. J., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.&lt;/strong&gt; J. Clin. Invest. 96: 1216-1220, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7657794/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7657794&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI118154&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7657794">MacRae et al. (1995)</a> found close linkage to DNA markers on chromosome 7q3. Four other loci responsible for familial hypertrophic cardiomyopathy had previously been identified (on chromosomes 1, 11, 14, and 15), but no report of individuals with familial hypertrophic cardiomyopathy due to mutation at the previously mapped disease loci were reported to have WPW, although 5 to 10% of hypertrophic cardiomyopathy patients have ventricular preexcitation. An association between WPW and familial hypertrophic cardiomyopathy had been noted in earliest descriptions of the latter condition. <a href="#6" class="mim-tip-reference" title="Braunwald, E., Morrow, A. G., Cornell, W. P., Aygen, M. M., Hilbish, T. F. &lt;strong&gt;Idiopathic hypertrophic subaortic stenosis: clinical, hemodynamic and angiographic manifestations.&lt;/strong&gt; Am. J. Med. 29: 924-945, 1960."None>Braunwald et al. (1960)</a> proposed that abnormal ventricular activation might result in regional myocardial hypertrophy or that localized hypertrophy might disrupt normal cardiac electrical discontinuity at the atrial ventricular ring. <a href="#11" class="mim-tip-reference" title="MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L. H., McGarry, K., Rowland, E., McKenna, W. J., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.&lt;/strong&gt; J. Clin. Invest. 96: 1216-1220, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7657794/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7657794&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI118154&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7657794">MacRae et al. (1995)</a> performed linkage studies in 2 additional families with typical CMH (without WPW) which did not map to any of the 4 known CMH loci and found that they also did not map to 7q3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657794" 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 CMH6 in the family reported by <a href="#13" class="mim-tip-reference" title="Sinha, S. C., Nair, M., Gambhir, D. S., Mohan, J. C., Kaul, U. A., Arora, R. &lt;strong&gt;Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy.&lt;/strong&gt; Indian Heart J. 52: 76-78, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10820940/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10820940&lt;/a&gt;]" pmid="10820940">Sinha et al. (2000)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10820940" 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="#13" class="mim-tip-reference" title="Sinha, S. C., Nair, M., Gambhir, D. S., Mohan, J. C., Kaul, U. A., Arora, R. &lt;strong&gt;Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy.&lt;/strong&gt; Indian Heart J. 52: 76-78, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10820940/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10820940&lt;/a&gt;]" pmid="10820940">Sinha et al. (2000)</a> reported a family in which 12 persons had ventricular preexcitation, 6 of whom also had cardiac hypertrophy. Three patients underwent successful ablation of typical accessory atrioventricular bundles, with subsequent loss of preexcitation. <a href="#8" class="mim-tip-reference" title="Gollob, M. H., Green, M. S., Roberts, R. &lt;strong&gt;A gene responsible for familial Wolff-Parkinson-White syndrome. Author Response. (Letter)&lt;/strong&gt; New Eng. J. Med. 345: 1063-1064, 2001."None>Gollob et al. (2001)</a> demonstrated the presence of an R302Q mutation in the PRKAG2 gene (<a href="/entry/602743#0001">602743.0001</a>) in this kindred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10820940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Blair, E., Redwood, C., Ashrafian, H., Oliveira, M., Broxholme, J., Kerr, B., Salmon, A., Ostman-Smith, I., Watkins, H. &lt;strong&gt;Mutations in the gamma-2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.&lt;/strong&gt; Hum. Molec. Genet. 10: 1215-1220, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11371514/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11371514&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.11.1215&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11371514">Blair et al. (2001)</a> identified heterozygous mutations in the PRKAG2 gene in 2 families with severe hypertrophic cardiomyopathy associated with conduction and electrocardiographic abnormalities, including WPW ventricular preexcitation syndrome in 3 individuals. Both mutations, 1 missense (H142R; <a href="/entry/602743#0002">602743.0002</a>) and 1 in-frame single codon insertion (<a href="/entry/602743#0003">602743.0003</a>), occur in highly conserved regions. Because AMPK provides a central sensing mechanism that protects cells from exhaustion of ATP supplies, <a href="#5" class="mim-tip-reference" title="Blair, E., Redwood, C., Ashrafian, H., Oliveira, M., Broxholme, J., Kerr, B., Salmon, A., Ostman-Smith, I., Watkins, H. &lt;strong&gt;Mutations in the gamma-2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.&lt;/strong&gt; Hum. Molec. Genet. 10: 1215-1220, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11371514/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11371514&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.11.1215&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11371514">Blair et al. (2001)</a> proposed that energy compromise may provide a unifying pathogenic mechanism in all forms of CMH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11371514" 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>Reports that dominant mutations in PRKAG2, an enzyme that modulates glucose uptake and glycolysis, can cause hypertrophic cardiomyopathy challenged the hypothesis that hypertrophic cardiomyopathy is a disease of the sarcomere. In addition to cardiac hypertrophy, individuals with PRKAG2 mutations frequently manifest electrophysiologic abnormalities, particularly Wolff-Parkinson-White syndrome (<a href="#8" class="mim-tip-reference" title="Gollob, M. H., Green, M. S., Roberts, R. &lt;strong&gt;A gene responsible for familial Wolff-Parkinson-White syndrome. Author Response. (Letter)&lt;/strong&gt; New Eng. J. Med. 345: 1063-1064, 2001."None>Gollob et al., 2001</a>), atrial fibrillation, and progressive development of atrioventricular conduction block. Although atrial fibrillation is common in CMH patients and becomes increasingly prevalent with disease duration, neither accessory pathway nor conduction system diseases are typical features of CMH. To understand the mechanisms by which PRKAG2 defects cause disease, <a href="#1" class="mim-tip-reference" title="Arad, M., Benson, D. W., Perez-Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., McGarry, K., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.&lt;/strong&gt; J. Clin. Invest. 109: 357-362, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11827995/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11827995&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11827995[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI14571&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11827995">Arad et al. (2002)</a> defined additional, novel mutations, including T400N (<a href="/entry/602743#0004">602743.0004</a>) in an isolated patient and N488I (<a href="/entry/602743#0005">602743.0005</a>) in the large family with CMH mapping to 7q3 originally reported by <a href="#11" class="mim-tip-reference" title="MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L. H., McGarry, K., Rowland, E., McKenna, W. J., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.&lt;/strong&gt; J. Clin. Invest. 96: 1216-1220, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7657794/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7657794&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI118154&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7657794">MacRae et al. (1995)</a>. A previously unrecognized and unusual histopathology was identified in hearts with PRKAG2 defects, which prompted biochemical analyses of the functional consequences of human PRKAG2 mutations on Snf4, the yeast homolog of the gamma-2 protein kinase subunit. <a href="#1" class="mim-tip-reference" title="Arad, M., Benson, D. W., Perez-Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., McGarry, K., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.&lt;/strong&gt; J. Clin. Invest. 109: 357-362, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11827995/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11827995&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11827995[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI14571&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11827995">Arad et al. (2002)</a> concluded their data indicated that PRKAG2 defects do not cause CMH, but rather a novel glycogen storage disease of the heart in which hypertrophy, ventricular preexcitation, and conduction system defects coexist. They found that although the cardiac pathology caused by the PRKAG2 mutations R302Q, T400N, and N488I included myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations. Instead, PRKAG2 mutations caused pronounced vacuole formation within myocytes. Several lines of evidence indicated that these vacuoles are filled with glycogen-associated granules. Analyses of the effects of human PRKAG2 mutations on Snf1/Snf4 kinase function demonstrated constitutive activity, which could foster glycogen accumulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7657794+11827995" 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 sporadic, unrelated patients with lethal congenital glycogen storage disease of the heart (<a href="/entry/261740">261740</a>), who died of hemodynamic and respiratory failure secondary to hypertrophic nonobstructive cardiomyopathy but also had Wolff-Parkinson-White-like conduction anomalies, <a href="#7" class="mim-tip-reference" title="Burwinkel, B., Scott, J. W., Buhrer, C., van Landeghem, F. K. H., Cox, G. F., Wilson, C. J., Hardie, D. G., Kilimann, M. W. &lt;strong&gt;Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma-2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 76: 1034-1049, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15877279/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15877279&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15877279[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/430840&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15877279">Burwinkel et al. (2005)</a> identified heterozygosity for an R531Q mutation in the PRKAG2 gene (<a href="/entry/602743#0007">602743.0007</a>). They noted that the molecular abnormalities of the R531Q mutant protein are more pronounced than those of other PRKAG2 mutants, which likely accounts for the more severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15877279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G. &lt;strong&gt;Glycogen storage diseases presenting as hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 352: 362-372, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15673802/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15673802&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa033349&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15673802">Arad et al. (2005)</a> analyzed the PRKAG2 gene in 35 patients with hypertrophic cardiomyopathy who were negative for mutations in known sarcomere-protein genes, and identified a heterozygous missense mutation (Y487H; <a href="/entry/602743#0008">602743.0008</a>) in 1 proband with moderate hypertrophy and an extremely short PR interval. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15673802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a child with idiopathic cardiac hypertrophy and presumed sporadic cardiomyopathy, who was negative for mutations in 9 of the known CMH genes, <a href="#12" class="mim-tip-reference" title="Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Shared genetic causes of cardiac hypertrophy in children and adults.&lt;/strong&gt; New Eng. J. Med. 358: 1899-1908, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18403758/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18403758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa075463&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18403758">Morita et al. (2008)</a> identified heterozygosity for a missense mutation in the PRKAG2 gene (H530R; <a href="/entry/602743#0009">602743.0009</a>). (The parents were not studied.) The mutation was not found in unrelated individuals matched by ancestral origin or in more than 1,000 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18403758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a father, son, and daughter with hypertrophic cardiomyopathy, <a href="#9" class="mim-tip-reference" title="Kelly, B. P., Russell, M. W., Hennessy, J. R., Ensing, G. J. &lt;strong&gt;Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.&lt;/strong&gt; Pediat. Cardiol. 30: 1176-1179, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19787389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19787389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00246-009-9521-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19787389">Kelly et al. (2009)</a> identified heterozygosity for a missense mutation in the PRKAG2 gene (E506Q; <a href="/entry/602743#0010">602743.0010</a>). <a href="#9" class="mim-tip-reference" title="Kelly, B. P., Russell, M. W., Hennessy, J. R., Ensing, G. J. &lt;strong&gt;Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.&lt;/strong&gt; Pediat. Cardiol. 30: 1176-1179, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19787389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19787389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00246-009-9521-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19787389">Kelly et al. (2009)</a> stated that 8 affected members of a family reported by <a href="#4" class="mim-tip-reference" title="Bayrak, F., Komurcu-Bayrak, E., Mutlu, B., Kahveci, G., Basaran, Y., Erginel-Unaltuna, N. &lt;strong&gt;Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.&lt;/strong&gt; Europ. J. Heart Fail. 8: 712-715, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16716659/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16716659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejheart.2006.03.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16716659">Bayrak et al. (2006)</a> with a PRKAG2 mutation at the same codon (E506K) had ventricular preexcitation and mild left ventricular hypertrophy; endomyocardial biopsy of the adult proband showed profound intracellular vacuolization and marked interstitial fibrosis. In the family studied by <a href="#9" class="mim-tip-reference" title="Kelly, B. P., Russell, M. W., Hennessy, J. R., Ensing, G. J. &lt;strong&gt;Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.&lt;/strong&gt; Pediat. Cardiol. 30: 1176-1179, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19787389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19787389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00246-009-9521-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19787389">Kelly et al. (2009)</a>, the father had undergone cardiac transplantation for cardiomyopathy at age 29 years. In the 6-year-old daughter, 'prominent forces' were noted on electrocardiography and subsequent 2-D echocardiography revealed left ventricular mass at the 90th percentile for body surface area. The son presented at 6 months of age with a heart murmur and was found to have significant left ventricular hypertrophy on electrocardiogram; 2-D echocardiography showed markedly asymmetric septal hypertrophy and subaortic outflow tract obstruction. Repeat echocardiogram 5 months later showed severely obstructive CMH with hyperdynamic left ventricular systolic function and near-obliteration of the left ventricular cavity, and electrocardiography showed biventricular hypertrophy with a short PR interval (80 ms) and ventricular preexcitation. Examination of endocardial biopsy tissue from the boy showed a normal amount of glycogen present in the myocytes by staining and electron microscopy; a mild increase interstitial connective tissue was thought to represent nonspecific hypertrophic changes in the myocardium. Noting that in the patients reported by <a href="#7" class="mim-tip-reference" title="Burwinkel, B., Scott, J. W., Buhrer, C., van Landeghem, F. K. H., Cox, G. F., Wilson, C. J., Hardie, D. G., Kilimann, M. W. &lt;strong&gt;Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma-2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 76: 1034-1049, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15877279/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15877279&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15877279[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/430840&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15877279">Burwinkel et al. (2005)</a>, the approximately 4- to 6-fold increase in cardiac mass was associated with only a 3-fold increase in glycogen content and an absence of more organized cellular aggregations of glycogen, <a href="#9" class="mim-tip-reference" title="Kelly, B. P., Russell, M. W., Hennessy, J. R., Ensing, G. J. &lt;strong&gt;Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.&lt;/strong&gt; Pediat. Cardiol. 30: 1176-1179, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19787389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19787389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00246-009-9521-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19787389">Kelly et al. (2009)</a> concluded that CMH due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19787389+16716659+15877279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 38-year-old man with hypertrophic cardiomyopathy, severe conduction system abnormalities, and mild skeletal muscle glycogenosis, who was negative for mutation in the LMNA gene (<a href="/entry/150330">150330</a>), <a href="#10" class="mim-tip-reference" title="Laforet, P., Richard, P., Said, M. A., Romero, N. B., Lacene, E., Leroy, J.-P., Baussan, C., Hogrel, J.-Y., Lavergne, T., Wahbi, K., Hainque, B., Duboc, D. &lt;strong&gt;A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.&lt;/strong&gt; Neuromusc. Disord. 16: 178-182, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16487706/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16487706&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2005.12.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16487706">Laforet et al. (2006)</a> identified heterozygosity for mutation in the PRKAG2 gene (<a href="/entry/602743#0011">602743.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16487706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Arad, M., Moskowitz, I. P., Patel, V. V., Ahmad, F., Perez-Atayde, A. R., Sawyer, D. B., Walter, M., Li, G. H., Burgon, P. G., Maguire, C. T., Stapleton, D., Schmitt, J. P., Guo, X. X., Pizard, A., Kupershmidt, S., Roden, D. M., Berul, C. I., Seidman, C. E., Seidman, J. G. &lt;strong&gt;Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.&lt;/strong&gt; Circulation 107: 2850-2856, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12782567/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12782567&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.CIR.0000075270.13497.2B&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12782567">Arad et al. (2003)</a> constructed transgenic mice overexpressing the PRKAG2 cDNA with or without a missense N488I human mutation (<a href="/entry/602743#0005">602743.0005</a>). The transgenic mice showed elevated AMP-activated protein kinase activity, accumulated large amounts of cardiac glycogen, developed dramatic left ventricular hypertrophy, and exhibited ventricular preexcitation and sinus node dysfunction. Electrophysiologic testing demonstrated alternative atrioventricular conduction pathways consistent with Wolff-Parkinson-White syndrome. Cardiac histopathology revealed that the annulus fibrosis, which normally insulates the ventricles from inappropriate excitation by the atria, was disrupted by glycogen-filled myocytes. <a href="#3" class="mim-tip-reference" title="Arad, M., Moskowitz, I. P., Patel, V. V., Ahmad, F., Perez-Atayde, A. R., Sawyer, D. B., Walter, M., Li, G. H., Burgon, P. G., Maguire, C. T., Stapleton, D., Schmitt, J. P., Guo, X. X., Pizard, A., Kupershmidt, S., Roden, D. M., Berul, C. I., Seidman, C. E., Seidman, J. G. &lt;strong&gt;Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.&lt;/strong&gt; Circulation 107: 2850-2856, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12782567/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12782567&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.CIR.0000075270.13497.2B&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12782567">Arad et al. (2003)</a> concluded that these data establish that PRKAG2 mutations cause a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiologic findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe (<a href="/entry/232300">232300</a>), Danon (<a href="/entry/300257">300257</a>), and other glycogen storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12782567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Arad2002" class="mim-anchor"></a>
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Arad, M., Benson, D. W., Perez-Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., McGarry, K., Seidman, J. G., Seidman, C. E.
<strong>Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.</strong>
J. Clin. Invest. 109: 357-362, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11827995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11827995</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11827995[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11827995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI14571" target="_blank">Full Text</a>]
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Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G.
<strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 352: 362-372, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15673802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15673802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15673802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa033349" target="_blank">Full Text</a>]
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<a id="Arad2003" class="mim-anchor"></a>
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Arad, M., Moskowitz, I. P., Patel, V. V., Ahmad, F., Perez-Atayde, A. R., Sawyer, D. B., Walter, M., Li, G. H., Burgon, P. G., Maguire, C. T., Stapleton, D., Schmitt, J. P., Guo, X. X., Pizard, A., Kupershmidt, S., Roden, D. M., Berul, C. I., Seidman, C. E., Seidman, J. G.
<strong>Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.</strong>
Circulation 107: 2850-2856, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12782567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12782567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12782567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.CIR.0000075270.13497.2B" target="_blank">Full Text</a>]
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<a id="Bayrak2006" class="mim-anchor"></a>
<div class="">
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Bayrak, F., Komurcu-Bayrak, E., Mutlu, B., Kahveci, G., Basaran, Y., Erginel-Unaltuna, N.
<strong>Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.</strong>
Europ. J. Heart Fail. 8: 712-715, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16716659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16716659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16716659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejheart.2006.03.006" target="_blank">Full Text</a>]
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<a id="Blair2001" class="mim-anchor"></a>
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Blair, E., Redwood, C., Ashrafian, H., Oliveira, M., Broxholme, J., Kerr, B., Salmon, A., Ostman-Smith, I., Watkins, H.
<strong>Mutations in the gamma-2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.</strong>
Hum. Molec. Genet. 10: 1215-1220, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11371514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11371514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11371514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/10.11.1215" target="_blank">Full Text</a>]
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<a id="Braunwald1960" class="mim-anchor"></a>
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<p class="mim-text-font">
Braunwald, E., Morrow, A. G., Cornell, W. P., Aygen, M. M., Hilbish, T. F.
<strong>Idiopathic hypertrophic subaortic stenosis: clinical, hemodynamic and angiographic manifestations.</strong>
Am. J. Med. 29: 924-945, 1960.
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<a id="Burwinkel2005" class="mim-anchor"></a>
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Burwinkel, B., Scott, J. W., Buhrer, C., van Landeghem, F. K. H., Cox, G. F., Wilson, C. J., Hardie, D. G., Kilimann, M. W.
<strong>Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma-2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.</strong>
Am. J. Hum. Genet. 76: 1034-1049, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15877279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15877279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15877279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15877279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/430840" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Gollob2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gollob, M. H., Green, M. S., Roberts, R.
<strong>A gene responsible for familial Wolff-Parkinson-White syndrome. Author Response. (Letter)</strong>
New Eng. J. Med. 345: 1063-1064, 2001.
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Kelly2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kelly, B. P., Russell, M. W., Hennessy, J. R., Ensing, G. J.
<strong>Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.</strong>
Pediat. Cardiol. 30: 1176-1179, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19787389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19787389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19787389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00246-009-9521-3" target="_blank">Full Text</a>]
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<a id="Laforet2006" class="mim-anchor"></a>
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Laforet, P., Richard, P., Said, M. A., Romero, N. B., Lacene, E., Leroy, J.-P., Baussan, C., Hogrel, J.-Y., Lavergne, T., Wahbi, K., Hainque, B., Duboc, D.
<strong>A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.</strong>
Neuromusc. Disord. 16: 178-182, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16487706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16487706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16487706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2005.12.004" target="_blank">Full Text</a>]
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<a id="MacRae1995" class="mim-anchor"></a>
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MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L. H., McGarry, K., Rowland, E., McKenna, W. J., Seidman, J. G., Seidman, C. E.
<strong>Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.</strong>
J. Clin. Invest. 96: 1216-1220, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI118154" target="_blank">Full Text</a>]
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<a id="Morita2008" class="mim-anchor"></a>
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Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J. G., Seidman, C. E.
<strong>Shared genetic causes of cardiac hypertrophy in children and adults.</strong>
New Eng. J. Med. 358: 1899-1908, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18403758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18403758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18403758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa075463" target="_blank">Full Text</a>]
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<a id="Sinha2000" class="mim-anchor"></a>
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Sinha, S. C., Nair, M., Gambhir, D. S., Mohan, J. C., Kaul, U. A., Arora, R.
<strong>Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy.</strong>
Indian Heart J. 52: 76-78, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10820940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10820940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10820940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 5/11/2010
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Marla J. F. O'Neill - updated : 3/8/2010<br>Marla J. F. O'Neill - updated : 6/4/2008<br>Marla J. F. O'Neill - updated : 5/26/2005<br>Marla J. F. O'Neill - updated : 10/21/2004<br>George E. Tiller - updated : 5/1/2002<br>Victor A. McKusick - updated : 6/21/2001<br>Victor A. McKusick - updated : 8/1/1997
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Victor A. McKusick : 10/17/1995
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carol : 12/15/2022
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carol : 09/22/2020<br>carol : 10/20/2017<br>carol : 10/19/2017<br>carol : 09/14/2016<br>terry : 02/03/2012<br>wwang : 11/22/2010<br>wwang : 5/12/2010<br>terry : 5/11/2010<br>carol : 3/24/2010<br>carol : 3/24/2010<br>carol : 3/23/2010<br>carol : 3/8/2010<br>terry : 6/4/2008<br>carol : 6/2/2008<br>carol : 7/21/2006<br>carol : 7/21/2006<br>carol : 8/12/2005<br>carol : 8/1/2005<br>terry : 5/26/2005<br>alopez : 2/7/2005<br>carol : 10/21/2004<br>carol : 10/21/2004<br>carol : 12/4/2002<br>cwells : 5/1/2002<br>cwells : 5/1/2002<br>carol : 5/1/2002<br>mcapotos : 6/27/2001<br>terry : 6/21/2001<br>terry : 8/5/1997<br>terry : 8/1/1997<br>jamie : 12/18/1996<br>mimadm : 11/3/1995<br>mark : 10/17/1995
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<strong>#</strong> 600858
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
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<strong>DO:</strong> 0110312; &nbsp;
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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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7q36.1
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Cardiomyopathy, hypertrophic 6
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600858
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Autosomal dominant
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3
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PRKAG2
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602743
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that familial hypertrophic cardiomyopathy-6 (CMH6) is caused by heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2; 602743) on chromosome 7q36.</p><p>Mutation in the PRKAG2 gene also causes the Wolff-Parkinson-White preexcitation syndrome (194200) in isolation or in association with cardiac hypertrophy.</p><p>For a phenotypic general description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).</p>
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<strong>Description</strong>
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<p>Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005). </p>
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<strong>Clinical Features</strong>
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<p>Laforet et al. (2006) studied a 38-year-old man who presented after 4 episodes of 'faintness' after swimming and had a 15-year history of lasting muscle stiffness without weakness in the arms and legs after prolonged exercise. He had 2 sibs who were asymptomatic, but a paternal aunt died suddenly at 65 years of age. Electrocardiogram showed sinus bradycardia with high-degree atrioventricular block and left bundle branch block, and a pacemaker was implanted. Echocardiography revealed hypertrophic cardiomyopathy. Limb muscle bulk and strength were normal on clinical examination, but deltoid muscle biopsy revealed sarcolemmal vacuoles in 10% of muscle fibers with intense periodic acid-Schiff staining, and ultrastructural analysis confirmed the presence of nonlysosomal glycogen accumulation. </p>
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<strong>Mapping</strong>
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<p>In a large family with 25 surviving individuals affected by familial hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome (WPW; 194200), or both, MacRae et al. (1995) found close linkage to DNA markers on chromosome 7q3. Four other loci responsible for familial hypertrophic cardiomyopathy had previously been identified (on chromosomes 1, 11, 14, and 15), but no report of individuals with familial hypertrophic cardiomyopathy due to mutation at the previously mapped disease loci were reported to have WPW, although 5 to 10% of hypertrophic cardiomyopathy patients have ventricular preexcitation. An association between WPW and familial hypertrophic cardiomyopathy had been noted in earliest descriptions of the latter condition. Braunwald et al. (1960) proposed that abnormal ventricular activation might result in regional myocardial hypertrophy or that localized hypertrophy might disrupt normal cardiac electrical discontinuity at the atrial ventricular ring. MacRae et al. (1995) performed linkage studies in 2 additional families with typical CMH (without WPW) which did not map to any of the 4 known CMH loci and found that they also did not map to 7q3. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CMH6 in the family reported by Sinha et al. (2000) was consistent with autosomal dominant inheritance. </p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>Sinha et al. (2000) reported a family in which 12 persons had ventricular preexcitation, 6 of whom also had cardiac hypertrophy. Three patients underwent successful ablation of typical accessory atrioventricular bundles, with subsequent loss of preexcitation. Gollob et al. (2001) demonstrated the presence of an R302Q mutation in the PRKAG2 gene (602743.0001) in this kindred. </p><p>Blair et al. (2001) identified heterozygous mutations in the PRKAG2 gene in 2 families with severe hypertrophic cardiomyopathy associated with conduction and electrocardiographic abnormalities, including WPW ventricular preexcitation syndrome in 3 individuals. Both mutations, 1 missense (H142R; 602743.0002) and 1 in-frame single codon insertion (602743.0003), occur in highly conserved regions. Because AMPK provides a central sensing mechanism that protects cells from exhaustion of ATP supplies, Blair et al. (2001) proposed that energy compromise may provide a unifying pathogenic mechanism in all forms of CMH. </p><p>Reports that dominant mutations in PRKAG2, an enzyme that modulates glucose uptake and glycolysis, can cause hypertrophic cardiomyopathy challenged the hypothesis that hypertrophic cardiomyopathy is a disease of the sarcomere. In addition to cardiac hypertrophy, individuals with PRKAG2 mutations frequently manifest electrophysiologic abnormalities, particularly Wolff-Parkinson-White syndrome (Gollob et al., 2001), atrial fibrillation, and progressive development of atrioventricular conduction block. Although atrial fibrillation is common in CMH patients and becomes increasingly prevalent with disease duration, neither accessory pathway nor conduction system diseases are typical features of CMH. To understand the mechanisms by which PRKAG2 defects cause disease, Arad et al. (2002) defined additional, novel mutations, including T400N (602743.0004) in an isolated patient and N488I (602743.0005) in the large family with CMH mapping to 7q3 originally reported by MacRae et al. (1995). A previously unrecognized and unusual histopathology was identified in hearts with PRKAG2 defects, which prompted biochemical analyses of the functional consequences of human PRKAG2 mutations on Snf4, the yeast homolog of the gamma-2 protein kinase subunit. Arad et al. (2002) concluded their data indicated that PRKAG2 defects do not cause CMH, but rather a novel glycogen storage disease of the heart in which hypertrophy, ventricular preexcitation, and conduction system defects coexist. They found that although the cardiac pathology caused by the PRKAG2 mutations R302Q, T400N, and N488I included myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations. Instead, PRKAG2 mutations caused pronounced vacuole formation within myocytes. Several lines of evidence indicated that these vacuoles are filled with glycogen-associated granules. Analyses of the effects of human PRKAG2 mutations on Snf1/Snf4 kinase function demonstrated constitutive activity, which could foster glycogen accumulation. </p><p>In 3 sporadic, unrelated patients with lethal congenital glycogen storage disease of the heart (261740), who died of hemodynamic and respiratory failure secondary to hypertrophic nonobstructive cardiomyopathy but also had Wolff-Parkinson-White-like conduction anomalies, Burwinkel et al. (2005) identified heterozygosity for an R531Q mutation in the PRKAG2 gene (602743.0007). They noted that the molecular abnormalities of the R531Q mutant protein are more pronounced than those of other PRKAG2 mutants, which likely accounts for the more severe phenotype. </p><p>Arad et al. (2005) analyzed the PRKAG2 gene in 35 patients with hypertrophic cardiomyopathy who were negative for mutations in known sarcomere-protein genes, and identified a heterozygous missense mutation (Y487H; 602743.0008) in 1 proband with moderate hypertrophy and an extremely short PR interval. </p><p>In a child with idiopathic cardiac hypertrophy and presumed sporadic cardiomyopathy, who was negative for mutations in 9 of the known CMH genes, Morita et al. (2008) identified heterozygosity for a missense mutation in the PRKAG2 gene (H530R; 602743.0009). (The parents were not studied.) The mutation was not found in unrelated individuals matched by ancestral origin or in more than 1,000 control chromosomes. </p><p>In a father, son, and daughter with hypertrophic cardiomyopathy, Kelly et al. (2009) identified heterozygosity for a missense mutation in the PRKAG2 gene (E506Q; 602743.0010). Kelly et al. (2009) stated that 8 affected members of a family reported by Bayrak et al. (2006) with a PRKAG2 mutation at the same codon (E506K) had ventricular preexcitation and mild left ventricular hypertrophy; endomyocardial biopsy of the adult proband showed profound intracellular vacuolization and marked interstitial fibrosis. In the family studied by Kelly et al. (2009), the father had undergone cardiac transplantation for cardiomyopathy at age 29 years. In the 6-year-old daughter, 'prominent forces' were noted on electrocardiography and subsequent 2-D echocardiography revealed left ventricular mass at the 90th percentile for body surface area. The son presented at 6 months of age with a heart murmur and was found to have significant left ventricular hypertrophy on electrocardiogram; 2-D echocardiography showed markedly asymmetric septal hypertrophy and subaortic outflow tract obstruction. Repeat echocardiogram 5 months later showed severely obstructive CMH with hyperdynamic left ventricular systolic function and near-obliteration of the left ventricular cavity, and electrocardiography showed biventricular hypertrophy with a short PR interval (80 ms) and ventricular preexcitation. Examination of endocardial biopsy tissue from the boy showed a normal amount of glycogen present in the myocytes by staining and electron microscopy; a mild increase interstitial connective tissue was thought to represent nonspecific hypertrophic changes in the myocardium. Noting that in the patients reported by Burwinkel et al. (2005), the approximately 4- to 6-fold increase in cardiac mass was associated with only a 3-fold increase in glycogen content and an absence of more organized cellular aggregations of glycogen, Kelly et al. (2009) concluded that CMH due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition. </p><p>In a 38-year-old man with hypertrophic cardiomyopathy, severe conduction system abnormalities, and mild skeletal muscle glycogenosis, who was negative for mutation in the LMNA gene (150330), Laforet et al. (2006) identified heterozygosity for mutation in the PRKAG2 gene (602743.0011). </p>
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<h4>
<span class="mim-font">
<strong>Animal Model</strong>
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<p>Arad et al. (2003) constructed transgenic mice overexpressing the PRKAG2 cDNA with or without a missense N488I human mutation (602743.0005). The transgenic mice showed elevated AMP-activated protein kinase activity, accumulated large amounts of cardiac glycogen, developed dramatic left ventricular hypertrophy, and exhibited ventricular preexcitation and sinus node dysfunction. Electrophysiologic testing demonstrated alternative atrioventricular conduction pathways consistent with Wolff-Parkinson-White syndrome. Cardiac histopathology revealed that the annulus fibrosis, which normally insulates the ventricles from inappropriate excitation by the atria, was disrupted by glycogen-filled myocytes. Arad et al. (2003) concluded that these data establish that PRKAG2 mutations cause a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiologic findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe (232300), Danon (300257), and other glycogen storage diseases. </p>
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<strong>REFERENCES</strong>
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<li>
<p class="mim-text-font">
Arad, M., Benson, D. W., Perez-Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., McGarry, K., Seidman, J. G., Seidman, C. E.
<strong>Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.</strong>
J. Clin. Invest. 109: 357-362, 2002.
[PubMed: 11827995]
[Full Text: https://doi.org/10.1172/JCI14571]
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</li>
<li>
<p class="mim-text-font">
Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G.
<strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 352: 362-372, 2005.
[PubMed: 15673802]
[Full Text: https://doi.org/10.1056/NEJMoa033349]
</p>
</li>
<li>
<p class="mim-text-font">
Arad, M., Moskowitz, I. P., Patel, V. V., Ahmad, F., Perez-Atayde, A. R., Sawyer, D. B., Walter, M., Li, G. H., Burgon, P. G., Maguire, C. T., Stapleton, D., Schmitt, J. P., Guo, X. X., Pizard, A., Kupershmidt, S., Roden, D. M., Berul, C. I., Seidman, C. E., Seidman, J. G.
<strong>Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.</strong>
Circulation 107: 2850-2856, 2003.
[PubMed: 12782567]
[Full Text: https://doi.org/10.1161/01.CIR.0000075270.13497.2B]
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</li>
<li>
<p class="mim-text-font">
Bayrak, F., Komurcu-Bayrak, E., Mutlu, B., Kahveci, G., Basaran, Y., Erginel-Unaltuna, N.
<strong>Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.</strong>
Europ. J. Heart Fail. 8: 712-715, 2006.
[PubMed: 16716659]
[Full Text: https://doi.org/10.1016/j.ejheart.2006.03.006]
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</li>
<li>
<p class="mim-text-font">
Blair, E., Redwood, C., Ashrafian, H., Oliveira, M., Broxholme, J., Kerr, B., Salmon, A., Ostman-Smith, I., Watkins, H.
<strong>Mutations in the gamma-2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.</strong>
Hum. Molec. Genet. 10: 1215-1220, 2001.
[PubMed: 11371514]
[Full Text: https://doi.org/10.1093/hmg/10.11.1215]
</p>
</li>
<li>
<p class="mim-text-font">
Braunwald, E., Morrow, A. G., Cornell, W. P., Aygen, M. M., Hilbish, T. F.
<strong>Idiopathic hypertrophic subaortic stenosis: clinical, hemodynamic and angiographic manifestations.</strong>
Am. J. Med. 29: 924-945, 1960.
</p>
</li>
<li>
<p class="mim-text-font">
Burwinkel, B., Scott, J. W., Buhrer, C., van Landeghem, F. K. H., Cox, G. F., Wilson, C. J., Hardie, D. G., Kilimann, M. W.
<strong>Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma-2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.</strong>
Am. J. Hum. Genet. 76: 1034-1049, 2005.
[PubMed: 15877279]
[Full Text: https://doi.org/10.1086/430840]
</p>
</li>
<li>
<p class="mim-text-font">
Gollob, M. H., Green, M. S., Roberts, R.
<strong>A gene responsible for familial Wolff-Parkinson-White syndrome. Author Response. (Letter)</strong>
New Eng. J. Med. 345: 1063-1064, 2001.
</p>
</li>
<li>
<p class="mim-text-font">
Kelly, B. P., Russell, M. W., Hennessy, J. R., Ensing, G. J.
<strong>Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.</strong>
Pediat. Cardiol. 30: 1176-1179, 2009.
[PubMed: 19787389]
[Full Text: https://doi.org/10.1007/s00246-009-9521-3]
</p>
</li>
<li>
<p class="mim-text-font">
Laforet, P., Richard, P., Said, M. A., Romero, N. B., Lacene, E., Leroy, J.-P., Baussan, C., Hogrel, J.-Y., Lavergne, T., Wahbi, K., Hainque, B., Duboc, D.
<strong>A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.</strong>
Neuromusc. Disord. 16: 178-182, 2006.
[PubMed: 16487706]
[Full Text: https://doi.org/10.1016/j.nmd.2005.12.004]
</p>
</li>
<li>
<p class="mim-text-font">
MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L. H., McGarry, K., Rowland, E., McKenna, W. J., Seidman, J. G., Seidman, C. E.
<strong>Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.</strong>
J. Clin. Invest. 96: 1216-1220, 1995.
[PubMed: 7657794]
[Full Text: https://doi.org/10.1172/JCI118154]
</p>
</li>
<li>
<p class="mim-text-font">
Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J. G., Seidman, C. E.
<strong>Shared genetic causes of cardiac hypertrophy in children and adults.</strong>
New Eng. J. Med. 358: 1899-1908, 2008.
[PubMed: 18403758]
[Full Text: https://doi.org/10.1056/NEJMoa075463]
</p>
</li>
<li>
<p class="mim-text-font">
Sinha, S. C., Nair, M., Gambhir, D. S., Mohan, J. C., Kaul, U. A., Arora, R.
<strong>Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy.</strong>
Indian Heart J. 52: 76-78, 2000.
[PubMed: 10820940]
</p>
</li>
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