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<title>
Entry
- #261740 - GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
- OMIM
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<span class="h4">#261740</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/261740"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL) 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23393&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/8486" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=261740[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=439854" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0090101" 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>
<div><a href="http://www.informatics.jax.org/disease/261740" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0090101" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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>
<div>
<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>SNOMEDCT:</strong> 1230303001<br />
<strong>ORPHA:</strong> 439854<br />
<strong>DO:</strong> 0090101<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
261740
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
PHOSPHORYLASE KINASE DEFICIENCY OF HEART<br />
GLYCOGEN STORAGE DISEASE OF HEART
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840">
7q36.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Glycogen storage disease of heart, lethal congenital
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261740"> 261740 </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>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/261740" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS232200" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/261740" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/261740" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dysmorphic facies, mild (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748734</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248200007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248200007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001999</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Macroglossia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25273001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/270516002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">270516002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K14.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024421</a>, <a href="https://bioportal.bioontology.org/search?q=C0009677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Tongue,Large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bradycardia, persistent, onset in utero <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012197&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012197</a>]</span><br /> -
Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
Biventricular hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0281788&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281788</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200128</a>]</span><br /> -
Short PR interval <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49578007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49578007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0520878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005165" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005165</a>]</span><br /> -
Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
Vacuolar cardiomyopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012198&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012198</a>]</span><br /> -
Markedly increased glycogen in myocardium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231044&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231044</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034532</a>]</span><br /> -
Absent phosphorylase kinase activity in myocardial tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231043&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231043</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypotension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45007003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45007003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/458.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020649</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002615</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002615</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Plural effusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60046008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60046008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/511.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">511.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032227</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002202</a>]</span><br /> -
Pulmonary edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19242006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19242006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J81.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J81.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034063</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100598</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100598</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ascites <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/389026000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">389026000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R18.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003962</a>, <a href="https://bioportal.bioontology.org/search?q=C5441966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441966</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030995</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Renomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</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">
- Vacuolar myopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/719815005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">719815005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2931230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931230</a>, <a href="https://bioportal.bioontology.org/search?q=C1839615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839615</a>]</span><br /> -
Atrophy, mild (in some cases) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012191&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012191</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13331008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13331008</a>]</span><br /> -
Increased glycogen in muscle (but to a lesser extent than in the heart) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231045&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231045</a>]</span><br /> -
Normal phosphorylase kinase activity in muscle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012193</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Seizures (in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Neonatal hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52767006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52767006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/775.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">775.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158986</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001998</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001998</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">
- Death in neonatal period<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#0007">602743.0007</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>
Glycogen storage disease
- <a href="/phenotypicSeries/PS232200">PS232200</a>
- 24 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/1/682?start=-3&limit=10&highlight=682"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614921"> Congenital disorder of glycosylation, type It </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/614921"> 614921 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171900"> PGM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171900"> 171900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/833?start=-3&limit=10&highlight=833"> 1p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232400"> Glycogen storage disease IIIa </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/232400"> 232400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> AGL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> 610860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/833?start=-3&limit=10&highlight=833"> 1p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232400"> Glycogen storage disease IIIb </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/232400"> 232400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> AGL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> 610860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/472?start=-3&limit=10&highlight=472"> 3p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232500"> Glycogen storage disease IV </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/232500"> 232500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607839"> GBE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607839"> 607839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/764?start=-3&limit=10&highlight=764"> 3q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613507"> ?Glycogen storage disease XV </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/613507"> 613507 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603942"> GYG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603942"> 603942 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/225?start=-3&limit=10&highlight=225"> 7p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261670"> Glycogen storage disease X </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/261670"> 261670 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612931"> PGAM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612931"> 612931 </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/261740"> Glycogen storage disease of heart, lethal congenital </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/261740"> 261740 </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/11/223?start=-3&limit=10&highlight=223"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612933"> Glycogen storage disease XI </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/612933"> 612933 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150000"> LDHA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150000"> 150000 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/558?start=-3&limit=10&highlight=558"> 11q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232600"> McArdle disease </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/232600"> 232600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608455"> PYGM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608455"> 608455 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232220"> Glycogen storage disease Ib </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/232220"> 232220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> SLC37A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> 602671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232240"> Glycogen storage disease Ic </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/232240"> 232240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> SLC37A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> 602671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/227?start=-3&limit=10&highlight=227"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/240600"> Glycogen storage disease 0, liver </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/240600"> 240600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138571"> GYS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138571"> 138571 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/327?start=-3&limit=10&highlight=327"> 12q13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232800"> Glycogen storage disease VII </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/232800"> 232800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610681"> PFKM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610681"> 610681 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/229?start=-3&limit=10&highlight=229"> 14q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232700"> Glycogen storage disease VI </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/232700"> 232700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613741"> PYGL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613741"> 613741 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/342?start=-3&limit=10&highlight=342"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611881"> Glycogen storage disease XII </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/611881"> 611881 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103850"> ALDOA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103850"> 103850 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/364?start=-3&limit=10&highlight=364"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613027"> Glycogen storage disease IXc </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/613027"> 613027 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172471"> PHKG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172471"> 172471 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/414?start=-3&limit=10&highlight=414"> 16q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261750"> Phosphorylase kinase deficiency of liver and muscle, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261750"> 261750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172490"> PHKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172490"> 172490 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/96?start=-3&limit=10&highlight=96"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612932"> Glycogen storage disease XIII </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/612932"> 612932 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131370"> ENO3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131370"> 131370 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/603?start=-3&limit=10&highlight=603"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232200"> Glycogen storage disease Ia </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/232200"> 232200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613742"> G6PC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613742"> 613742 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232300"> Glycogen storage disease II </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/232300"> 232300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606800"> GAA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606800"> 606800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/921?start=-3&limit=10&highlight=921"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611556"> Glycogen storage disease 0, muscle </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/611556"> 611556 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138570"> GYS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138570"> 138570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/103?start=-3&limit=10&highlight=103"> Xp22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/306000"> Glycogen storage disease, type IXa2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/306000"> 306000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> PHKA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> 300798 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/103?start=-3&limit=10&highlight=103"> Xp22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/306000"> Glycogen storage disease, type IXa1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/306000"> 306000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> PHKA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> 300798 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/423?start=-3&limit=10&highlight=423"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300559"> Muscle glycogenosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/300559"> 300559 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311870"> PHKA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311870"> 311870 </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 lethal congenital glycogen storage disease of the heart is caused by heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2; <a href="/entry/602743">602743</a>) on chromosome 7q36.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#5" class="mim-tip-reference" title="Mizuta, K., Hashimoto, E., Tsutou, A., Eishi, Y., Takemura, T., Narisawa, K., Yamamura, H. &lt;strong&gt;A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 119: 582-587, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6424667/&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;6424667&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0006-291x(84)80288-0&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="6424667">Mizuta et al. (1984)</a> and <a href="#3" class="mim-tip-reference" title="Eishi, Y., Takemura, T., Sone, R., Yamamura, H., Narisawa, K., Ichinohasama, R., Tanaka, M., Hatakeyama, S. &lt;strong&gt;Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease.&lt;/strong&gt; Hum. Path. 16: 193-197, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3918928/&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;3918928&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0046-8177(85)80071-x&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="3918928">Eishi et al. (1985)</a> described a seemingly unique case of glycogenosis, apparently confined to the heart, with deficient activity of cardiac phosphorylase kinase. The patient, a Japanese male, was found in the neonatal period to have hypoglycemia and general cyanosis; he died of heart failure at the age of 5 months. An apparently identical case was described by <a href="#7" class="mim-tip-reference" title="Servidei, S., Metlay, L. A., Chodosh, J., DiMauro, S. &lt;strong&gt;Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.&lt;/strong&gt; J. Pediat. 113: 82-85, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3385534/&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;3385534&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(88)80535-3&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="3385534">Servidei et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3385534+6424667+3918928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Servidei, S., Metlay, L. A., Chodosh, J., DiMauro, S. &lt;strong&gt;Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.&lt;/strong&gt; J. Pediat. 113: 82-85, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3385534/&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;3385534&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(88)80535-3&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="3385534">Servidei et al. (1988)</a> suggested that this disorder is a third variety of phosphorylase kinase deficiency, inherited as an autosomal recessive, that affects muscle alone; symptoms consist of exercise intolerance with myalgia and cramps, and probably with myoglobinuria in some. An X-linked form of phosphorylase kinase deficiency (<a href="/entry/306000">306000</a>) is characterized by hepatomegaly and a tendency to develop hypoglycemia with fasting; muscle is not affected, but the enzyme defect is expressed in erythrocytes. In an autosomal recessive form of the disorder (<a href="/entry/261750">261750</a>), both liver and muscle are affected; there is hepatomegaly, stunted growth, and, in some patients, hypotonia and mild weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3385534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Elleder, M., Shin, Y. S., Zuntova, A., Vojtovic, P., Chalupecky, V. &lt;strong&gt;Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.&lt;/strong&gt; Virchows Arch. A Path. Anat. Histopath. 423: 303-307, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8236826/&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;8236826&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01606895&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="8236826">Elleder et al. (1993)</a> reported the case of a male infant who was noted to have heart murmur, mild cardiomegaly, and failure to thrive at the age of 3 weeks and was found to have severe glycogenosis restricted to heart muscle. Rapidly progressive hypertrophic cardiomyopathy caused death at the age of 47 days. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8236826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Regalado, J. J., Rodriguez, M. M., Ferrer, P. L. &lt;strong&gt;Infantile hypertrophic cardiomyopathy of glycogenosis type IV: isolated cardiac phosphorylase kinase deficiency.&lt;/strong&gt; Pediat. Cardiol. 20: 304-307, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10368461/&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;10368461&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s002469900471&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="10368461">Regalado et al. (1999)</a> described 2 patients with fatal infantile cardiomyopathy. The first patient was a female born to a Latino mother with dermatomyositis who had been treated with cortisone during pregnancy. A sonogram at 17.5 weeks was unremarkable, but one done 2 days before delivery revealed thickened cardiac walls and large kidneys. Fetal echocardiogram showed severe 4-chamber hypertrophic nonobstructive cardiomyopathy with sinus bradycardia, prompting a cesarean section delivery. The baby was noted at birth to have hepatomegaly, bilateral renomegaly, macroglossia, and some facial dysmorphism. Electrocardiogram showed wide QRS, short PR interval, inverted T waves, and ST elevation. Electromyogram showed a diffuse myogenic degenerative process. Echocardiogram showed severe biventricular hypertrophy, obstruction of the right ventricular outflow tract, and decreased systolic flow. The infant died at 2.75 months of age. On postmortem examination, the myocardium had a mesh-like appearance and showed increased glycogen and reduced phosphorylase kinase. The kidneys were enlarged, but there was no hepatomegaly. Histologic and histochemical analysis showed no abnormal glycogen deposition in skeletal muscle, tongue, kidneys, or liver. The second patient was a Caucasian male who presented at birth with a regular sinus rhythm without murmur, micrognathia, and macroglossia. At 10 days, an echocardiogram showed septal hypertrophy without outflow tract obstruction. At 5 weeks, an echocardiogram showed increased biventricular hypertrophy, and a skeletal biopsy showed nonspecific atrophy. The patient died at 2 months of age. Postmortem examination revealed severe cardiac hypertrophy and renomegaly, but no hepatomegaly. Histologic and histochemical findings were the same as those in the female patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10368461" 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="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> described 5 sporadic, unrelated patients with fatal congenital nonlysosomal cardiac glycogenosis and noted the similarities between these patients and those previously described with so-called phosphorylase kinase deficiency of the heart. All but 1 had extreme cardiomegaly, onset of cardiac or respiratory distress in the neonatal period, and death at 3 weeks to 5 months of age. <a href="#2" 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> also observed low to absent phosphorylase kinase enzyme activity in their patients' heart autopsy specimens, but sequence analysis in 4 of their patients revealed no mutations in the 8 genes encoding phosphorylase kinase subunits or in the 2 genes encoding the muscle and brain forms of glycogen phosphorylase. <a href="#2" 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> suggested that the low phosphorylase kinase activity in autopsy specimens from their patients and perhaps in the previously reported cases is likely to be secondary or artifactual in nature. <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>In 3 patients with lethal congenital glycogen storage disease of the heart, <a href="#2" 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> confirmed autosomal dominant inheritance. <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>In 3 of 5 patients with fatal congenital nonlysosomal cardiac glycogenosis, <a href="#2" 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>). <a href="#2" 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> noted that this severe phenotype characterized by fetal onset, extreme cardiomegaly, and death in infancy extended the clinical spectrum of PRKAG2 mutations, which had previously been shown to cause familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome (<a href="/entry/600858">600858</a>). Patients with the R531Q mutation died of hemodynamic and respiratory failure secondary to hypertrophic nonobstructive cardiomyopathy, but also had Wolff-Parkinson-White-like conduction anomalies. <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>In a female infant with severe cardiac hypertrophy due to glycogen accumulation, in whom Pompe disease (<a href="/entry/232300">232300</a>) had been excluded and who died at 5 months of age while awaiting heart transplantation, <a href="#1" class="mim-tip-reference" title="Akman, H. O., Sampayo, J. N., Ross, F. A., Scott, J. W., Wilson, G., Benson, L., Bruno, C., Shanske, S., Hardie, D. G., DiMauro, S. &lt;strong&gt;Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma-2-subunit of AMP-activated protein kinase.&lt;/strong&gt; Pediat. Res. 62: 499-504, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17667862/&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;17667862&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/PDR.0b013e3181462b86&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="17667862">Akman et al. (2007)</a> identified heterozygosity for a missense mutation in the PRKAG2 gene (R384T; <a href="/entry/602743#0012">602743.0012</a>). Postmortem examination showed marked ventricular hypertrophy; there was greatly increased glycogen content in the myocardium and, to a lesser extent, in skeletal muscle. Biochemical assays in postmortem myocardium showed an 8-fold increase in glycogen concentration and undetectable phosphorylase kinase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17667862" 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="1" class="mim-anchor"></a>
<a id="Akman2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Akman, H. O., Sampayo, J. N., Ross, F. A., Scott, J. W., Wilson, G., Benson, L., Bruno, C., Shanske, S., Hardie, D. G., DiMauro, S.
<strong>Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma-2-subunit of AMP-activated protein kinase.</strong>
Pediat. Res. 62: 499-504, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17667862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17667862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17667862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1203/PDR.0b013e3181462b86" target="_blank">Full Text</a>]
</p>
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Burwinkel2005" class="mim-anchor"></a>
<div class="">
<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: <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>]
</p>
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<li>
<a id="3" class="mim-anchor"></a>
<a id="Eishi1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Eishi, Y., Takemura, T., Sone, R., Yamamura, H., Narisawa, K., Ichinohasama, R., Tanaka, M., Hatakeyama, S.
<strong>Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease.</strong>
Hum. Path. 16: 193-197, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3918928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3918928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3918928" 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/s0046-8177(85)80071-x" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Elleder1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Elleder, M., Shin, Y. S., Zuntova, A., Vojtovic, P., Chalupecky, V.
<strong>Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.</strong>
Virchows Arch. A Path. Anat. Histopath. 423: 303-307, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8236826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8236826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8236826" 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/BF01606895" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Mizuta1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mizuta, K., Hashimoto, E., Tsutou, A., Eishi, Y., Takemura, T., Narisawa, K., Yamamura, H.
<strong>A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.</strong>
Biochem. Biophys. Res. Commun. 119: 582-587, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6424667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6424667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6424667" 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/s0006-291x(84)80288-0" target="_blank">Full Text</a>]
</p>
</div>
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<a id="6" class="mim-anchor"></a>
<a id="Regalado1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Regalado, J. J., Rodriguez, M. M., Ferrer, P. L.
<strong>Infantile hypertrophic cardiomyopathy of glycogenosis type IV: isolated cardiac phosphorylase kinase deficiency.</strong>
Pediat. Cardiol. 20: 304-307, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10368461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10368461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10368461" 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/s002469900471" target="_blank">Full Text</a>]
</p>
</div>
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<a id="7" class="mim-anchor"></a>
<a id="Servidei1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Servidei, S., Metlay, L. A., Chodosh, J., DiMauro, S.
<strong>Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.</strong>
J. Pediat. 113: 82-85, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3385534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3385534</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3385534" 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/s0022-3476(88)80535-3" target="_blank">Full Text</a>]
</p>
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Marla J. F. O'Neill - updated : 2/25/2015
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Joanna S. Amberger - updated : 2/24/2015<br>Marla J. F. O'Neill - updated : 5/26/2005
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Creation Date:
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Victor A. McKusick : 1/12/1988
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carol : 06/20/2024
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carol : 02/25/2015<br>mcolton : 2/25/2015<br>carol : 2/24/2015<br>carol : 11/12/2013<br>terry : 10/14/2010<br>carol : 8/1/2005<br>terry : 5/26/2005<br>mimadm : 3/11/1994<br>carol : 12/13/1993<br>carol : 11/10/1993<br>supermim : 3/17/1992<br>carol : 6/25/1990<br>supermim : 3/20/1990
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<h3>
<span class="mim-font">
<strong>#</strong> 261740
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<h3>
<span class="mim-font">
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
PHOSPHORYLASE KINASE DEFICIENCY OF HEART<br />
GLYCOGEN STORAGE DISEASE OF HEART
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<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 1230303001; &nbsp;
<strong>ORPHA:</strong> 439854; &nbsp;
<strong>DO:</strong> 0090101; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
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<th>
Location
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<th>
Phenotype
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<th>
Phenotype <br /> MIM number
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<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
<span class="mim-font">
7q36.1
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<td>
<span class="mim-font">
Glycogen storage disease of heart, lethal congenital
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<td>
<span class="mim-font">
261740
</span>
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<td>
<span class="mim-font">
Autosomal dominant
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<span class="mim-font">
3
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<span class="mim-font">
PRKAG2
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<td>
<span class="mim-font">
602743
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that lethal congenital glycogen storage disease of the heart is caused by heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2; 602743) on chromosome 7q36.</p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
<p>Mizuta et al. (1984) and Eishi et al. (1985) described a seemingly unique case of glycogenosis, apparently confined to the heart, with deficient activity of cardiac phosphorylase kinase. The patient, a Japanese male, was found in the neonatal period to have hypoglycemia and general cyanosis; he died of heart failure at the age of 5 months. An apparently identical case was described by Servidei et al. (1988). </p><p>Servidei et al. (1988) suggested that this disorder is a third variety of phosphorylase kinase deficiency, inherited as an autosomal recessive, that affects muscle alone; symptoms consist of exercise intolerance with myalgia and cramps, and probably with myoglobinuria in some. An X-linked form of phosphorylase kinase deficiency (306000) is characterized by hepatomegaly and a tendency to develop hypoglycemia with fasting; muscle is not affected, but the enzyme defect is expressed in erythrocytes. In an autosomal recessive form of the disorder (261750), both liver and muscle are affected; there is hepatomegaly, stunted growth, and, in some patients, hypotonia and mild weakness. </p><p>Elleder et al. (1993) reported the case of a male infant who was noted to have heart murmur, mild cardiomegaly, and failure to thrive at the age of 3 weeks and was found to have severe glycogenosis restricted to heart muscle. Rapidly progressive hypertrophic cardiomyopathy caused death at the age of 47 days. </p><p>Regalado et al. (1999) described 2 patients with fatal infantile cardiomyopathy. The first patient was a female born to a Latino mother with dermatomyositis who had been treated with cortisone during pregnancy. A sonogram at 17.5 weeks was unremarkable, but one done 2 days before delivery revealed thickened cardiac walls and large kidneys. Fetal echocardiogram showed severe 4-chamber hypertrophic nonobstructive cardiomyopathy with sinus bradycardia, prompting a cesarean section delivery. The baby was noted at birth to have hepatomegaly, bilateral renomegaly, macroglossia, and some facial dysmorphism. Electrocardiogram showed wide QRS, short PR interval, inverted T waves, and ST elevation. Electromyogram showed a diffuse myogenic degenerative process. Echocardiogram showed severe biventricular hypertrophy, obstruction of the right ventricular outflow tract, and decreased systolic flow. The infant died at 2.75 months of age. On postmortem examination, the myocardium had a mesh-like appearance and showed increased glycogen and reduced phosphorylase kinase. The kidneys were enlarged, but there was no hepatomegaly. Histologic and histochemical analysis showed no abnormal glycogen deposition in skeletal muscle, tongue, kidneys, or liver. The second patient was a Caucasian male who presented at birth with a regular sinus rhythm without murmur, micrognathia, and macroglossia. At 10 days, an echocardiogram showed septal hypertrophy without outflow tract obstruction. At 5 weeks, an echocardiogram showed increased biventricular hypertrophy, and a skeletal biopsy showed nonspecific atrophy. The patient died at 2 months of age. Postmortem examination revealed severe cardiac hypertrophy and renomegaly, but no hepatomegaly. Histologic and histochemical findings were the same as those in the female patient. </p><p>Burwinkel et al. (2005) described 5 sporadic, unrelated patients with fatal congenital nonlysosomal cardiac glycogenosis and noted the similarities between these patients and those previously described with so-called phosphorylase kinase deficiency of the heart. All but 1 had extreme cardiomegaly, onset of cardiac or respiratory distress in the neonatal period, and death at 3 weeks to 5 months of age. Burwinkel et al. (2005) also observed low to absent phosphorylase kinase enzyme activity in their patients' heart autopsy specimens, but sequence analysis in 4 of their patients revealed no mutations in the 8 genes encoding phosphorylase kinase subunits or in the 2 genes encoding the muscle and brain forms of glycogen phosphorylase. Burwinkel et al. (2005) suggested that the low phosphorylase kinase activity in autopsy specimens from their patients and perhaps in the previously reported cases is likely to be secondary or artifactual in nature. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 3 patients with lethal congenital glycogen storage disease of the heart, Burwinkel et al. (2005) confirmed autosomal dominant inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 3 of 5 patients with fatal congenital nonlysosomal cardiac glycogenosis, Burwinkel et al. (2005) identified heterozygosity for an R531Q mutation in the PRKAG2 gene (602743.0007). Burwinkel et al. (2005) noted that this severe phenotype characterized by fetal onset, extreme cardiomegaly, and death in infancy extended the clinical spectrum of PRKAG2 mutations, which had previously been shown to cause familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome (600858). Patients with the R531Q mutation died of hemodynamic and respiratory failure secondary to hypertrophic nonobstructive cardiomyopathy, but also had Wolff-Parkinson-White-like conduction anomalies. </p><p>In a female infant with severe cardiac hypertrophy due to glycogen accumulation, in whom Pompe disease (232300) had been excluded and who died at 5 months of age while awaiting heart transplantation, Akman et al. (2007) identified heterozygosity for a missense mutation in the PRKAG2 gene (R384T; 602743.0012). Postmortem examination showed marked ventricular hypertrophy; there was greatly increased glycogen content in the myocardium and, to a lesser extent, in skeletal muscle. Biochemical assays in postmortem myocardium showed an 8-fold increase in glycogen concentration and undetectable phosphorylase kinase activity. </p>
</span>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Akman, H. O., Sampayo, J. N., Ross, F. A., Scott, J. W., Wilson, G., Benson, L., Bruno, C., Shanske, S., Hardie, D. G., DiMauro, S.
<strong>Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma-2-subunit of AMP-activated protein kinase.</strong>
Pediat. Res. 62: 499-504, 2007.
[PubMed: 17667862]
[Full Text: https://doi.org/10.1203/PDR.0b013e3181462b86]
</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">
Eishi, Y., Takemura, T., Sone, R., Yamamura, H., Narisawa, K., Ichinohasama, R., Tanaka, M., Hatakeyama, S.
<strong>Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease.</strong>
Hum. Path. 16: 193-197, 1985.
[PubMed: 3918928]
[Full Text: https://doi.org/10.1016/s0046-8177(85)80071-x]
</p>
</li>
<li>
<p class="mim-text-font">
Elleder, M., Shin, Y. S., Zuntova, A., Vojtovic, P., Chalupecky, V.
<strong>Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.</strong>
Virchows Arch. A Path. Anat. Histopath. 423: 303-307, 1993.
[PubMed: 8236826]
[Full Text: https://doi.org/10.1007/BF01606895]
</p>
</li>
<li>
<p class="mim-text-font">
Mizuta, K., Hashimoto, E., Tsutou, A., Eishi, Y., Takemura, T., Narisawa, K., Yamamura, H.
<strong>A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.</strong>
Biochem. Biophys. Res. Commun. 119: 582-587, 1984.
[PubMed: 6424667]
[Full Text: https://doi.org/10.1016/s0006-291x(84)80288-0]
</p>
</li>
<li>
<p class="mim-text-font">
Regalado, J. J., Rodriguez, M. M., Ferrer, P. L.
<strong>Infantile hypertrophic cardiomyopathy of glycogenosis type IV: isolated cardiac phosphorylase kinase deficiency.</strong>
Pediat. Cardiol. 20: 304-307, 1999.
[PubMed: 10368461]
[Full Text: https://doi.org/10.1007/s002469900471]
</p>
</li>
<li>
<p class="mim-text-font">
Servidei, S., Metlay, L. A., Chodosh, J., DiMauro, S.
<strong>Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.</strong>
J. Pediat. 113: 82-85, 1988.
[PubMed: 3385534]
[Full Text: https://doi.org/10.1016/s0022-3476(88)80535-3]
</p>
</li>
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Contributors:
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<span class="mim-text-font">
Marla J. F. O&#x27;Neill - updated : 2/25/2015<br>Joanna S. Amberger - updated : 2/24/2015<br>Marla J. F. O&#x27;Neill - updated : 5/26/2005
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Victor A. McKusick : 1/12/1988
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carol : 06/20/2024<br>carol : 02/25/2015<br>mcolton : 2/25/2015<br>carol : 2/24/2015<br>carol : 11/12/2013<br>terry : 10/14/2010<br>carol : 8/1/2005<br>terry : 5/26/2005<br>mimadm : 3/11/1994<br>carol : 12/13/1993<br>carol : 11/10/1993<br>supermim : 3/17/1992<br>carol : 6/25/1990<br>supermim : 3/20/1990
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
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Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
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