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Entry
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- #300257 - DANON DISEASE
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- OMIM
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<p>
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<span class="h4">#300257</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/300257"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#nomenclature">Nomenclature</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DANON DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10348&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK554742/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2114" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/danon-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300257[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34587" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/304c2056-2b0c-4841-aabd-ffcdde7926bf/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050437" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/300257" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050437" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 419097006<br />
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<strong>ICD10CM:</strong> E74.05<br />
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<strong>ORPHA:</strong> 34587<br />
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<strong>DO:</strong> 0050437<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300257
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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DANON DISEASE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED<br />
|
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PSEUDOGLYCOGENOSIS II<br />
|
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ANTOPOL DISEASE<br />
|
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LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY<br />
|
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GLYCOGEN STORAGE DISEASE IIb; GSD2B, FORMERLY<br />
|
|
GSD IIb, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/X/627?start=-3&limit=10&highlight=627">
|
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Xq24
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Danon disease
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/300257"> 300257 </a>
|
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</span>
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|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
LAMP2
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309060"> 309060 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300257" 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>
|
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</div>
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<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/300257" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300257" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
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|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
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|
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|
|
|
|
|
|
|
|
|
|
|
|
<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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Loss of visual acuity, moderate central, in males (20/60) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232481</a>]</span><br /> -
|
|
Normal to near-normal visual acuity in carrier females (20/30-20/20) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970924</a>]</span><br /> -
|
|
Fine lamellar white opacities on slit lamp exam in carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970925</a>]</span><br /> -
|
|
Near complete loss of peripheral retinal pigment in males <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970926</a>]</span><br /> -
|
|
Peppered pigmentary mottling of peripheral retinal pigment in carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970927</a>]</span><br /> -
|
|
Nonspecific changes seen on electroretinogram in carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232482</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertrophic cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195020003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195020003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233873004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233873004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45227007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45227007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/425.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551472</a>, <a href="https://bioportal.bioontology.org/search?q=C0340425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340425</a>, <a href="https://bioportal.bioontology.org/search?q=C0007194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span><br /> -
|
|
Dilated cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
|
|
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 /> -
|
|
Arrhythmias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br /> -
|
|
Wolff-Parkinson-White syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74390002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74390002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001716</a>]</span><br /> -
|
|
Hypokinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43994002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43994002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255385008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255385008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002375</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002375</a>]</span><br /> -
|
|
Decreased contractility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846086</a>]</span><br /> -
|
|
Hypertrophic cardiomyocytes seen on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232483</a>]</span><br /> -
|
|
Irregular nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232484</a>]</span><br /> -
|
|
Glycogen accumulation in myofibrils and lysosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232480</a>]</span><br /> -
|
|
Vacuolated cytoplasm with degenerated mitochondria, glycogen, and granular debris <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232485</a>]</span><br /> -
|
|
Myocardial fibrosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001685</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001685</a>]</span><br /> -
|
|
Myocardial necrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22298006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22298006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251061000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251061000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I22</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1442837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1442837</a>, <a href="https://bioportal.bioontology.org/search?q=C0027051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001700</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001700</a>]</span><br /> -
|
|
Severely decreased or absent LAMP2 protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846083</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Feet </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Pes cavus (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Proximal muscle weakness (85% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221629</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
|
|
Diffuse muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003700</a>]</span><br /> -
|
|
Exercise intolerance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267044007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267044007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span><br /> -
|
|
Muscle cramps with exercise <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003710</a>]</span><br /> -
|
|
Myopathic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
|
|
Sarcoplasmic PAS-positive vacuoles seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232479</a>]</span><br /> -
|
|
Glycogen accumulation in myofibrils and lysosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232480</a>]</span><br /> -
|
|
Indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846080</a>]</span><br /> -
|
|
Vacuoles are autophagocytic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846081</a>]</span><br /> -
|
|
Vacuolar membranes immunostain with sarcolemmal proteins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846082</a>]</span><br /> -
|
|
Severely decreased or absent LAMP2 protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846083</a>]</span><br /> -
|
|
Positive staining for complement C5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846084</a>]</span><br /> -
|
|
Normal alpha-glucosidase or acid maltase activity (GAA, <a href="/entry/606800">606800</a>)<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation (70%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Cognitive impairment, mild <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386805003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386805003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G31.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G31.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1270972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1270972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
|
|
Delayed development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
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- Caused by mutation in the lysosome associated membrane protein-2 gene (LAMP2, <a href="/entry/309060#0001">309060.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Danon disease, also known as X-linked vacuolar cardiomyopathy and myopathy, is caused by mutation in the LAMP2 gene (<a href="/entry/309060">309060</a>), which encodes lysosome-associated membrane protein-2, on chromosome Xq24.</p>
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<p>Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; <a href="/entry/232300">232300</a>) with 'normal acid maltase' or alpha-glucosidase (GAA; <a href="/entry/606800">606800</a>) (<a href="#8" class="mim-tip-reference" title="Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H. <strong>Lysosomal glycogen storage disease with normal acid maltase.</strong> Neurology 31: 51-57, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6450334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6450334</a>] [<a href="https://doi.org/10.1212/wnl.31.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6450334">Danon et al., 1981</a>). However, <a href="#16" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> stated that Danon disease is not a glycogen storage disease because glycogen is not always increased. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10972294+6450334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Sugie, K., Noguchi, S., Kozuka, Y., Arikawa-Hirasawa, E., Tanaka, M., Yan, C., Saftig, P., von Figura, K., Hirano, M., Ueno, S., Nonaka, I., Nishino, I. <strong>Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.</strong> J. Neuropath. Exp. Neurol. 64: 513-522, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15977643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15977643</a>] [<a href="https://doi.org/10.1093/jnen/64.6.513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15977643">Sugie et al. (2005)</a> classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15977643" 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>X-linked myopathy with excessive autophagy (XMEA; <a href="/entry/310440">310440</a>) is a distinct disorder with similar pathologic features.</p>
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<p><a href="#1" class="mim-tip-reference" title="Antopol, W., Boas, E. P., Levison, W., Tuchman, L. R. <strong>Cardiac hypertrophy caused by glycogen storage disease in a 15-year-old boy.</strong> Am. Heart J. 20: 546-556, 1940."None>Antopol et al. (1940)</a> described 2 brothers who died in the second decade of life with heart failure. Autopsy of 1 patient showed glycogen storage disease limited to the myocardium. <a href="#13" class="mim-tip-reference" title="Mehrizi, A., Oppenheimer, E. H. <strong>Heart failure associated with unusual deposition of glycogen in the myocardium.</strong> Bull. Johns Hopkins Hosp. 107: 329-336, 1960."None>Mehrizi and Oppenheimer (1960)</a> reported 2 related patients with heart failure associated with unusual deposition of glycogen in the myocardium.</p><p><a href="#8" class="mim-tip-reference" title="Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H. <strong>Lysosomal glycogen storage disease with normal acid maltase.</strong> Neurology 31: 51-57, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6450334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6450334</a>] [<a href="https://doi.org/10.1212/wnl.31.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6450334">Danon et al. (1981)</a> reported 2 unrelated males with mental retardation, hypertrophic cardiomyopathy, and proximal muscle weakness. One patient had hepatomegaly. Examination of skeletal muscle biopsies showed features suggestive of a lysosomal glycogen storage disease. However, acid alpha-glucosidase activity was normal, excluding a diagnosis of Pompe disease, or glycogen storage disease type II (GSD II). Both patients died at the age of 17 years. <a href="#18" class="mim-tip-reference" title="Riggs, J. E., Schochet, S. S., Jr., Gutmann, L., Shanske, S., Neal, W. A., DiMauro, S. <strong>Lysosomal glycogen storage disease without acid maltase deficiency.</strong> Neurology 33: 873-877, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6408499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6408499</a>] [<a href="https://doi.org/10.1212/wnl.33.7.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6408499">Riggs et al. (1983)</a> described lysosomal storage disease with normal acid maltase activity in 2 brothers. One of the brothers showed muscle weakness at age 3 years. Both patients had Wolff-Parkinson-White electrocardiographic findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6408499+6450334" 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="Bergia, B., Sybers, H. D., Butler, I. J. <strong>Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.</strong> J. Neurol. Neurosurg. Psychiat. 49: 1423-1426, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3806120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3806120</a>] [<a href="https://doi.org/10.1136/jnnp.49.12.1423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3806120">Bergia et al. (1986)</a> reported a kindred in which 2 sisters gave birth to a total of 3 sons with mental retardation, scapuloperoneal muscular weakness, and hypertrophic cardiomyopathy. Intellectual deterioration began at about age 5 years. Hypertrophic cardiomyopathy manifesting itself in the teens led to death at ages 17 and 21 years in 2 of the patients. On evaluation in their teens, the affected males showed wasting of distal muscle groups, positive Gowers maneuver, and predominant humeroperoneal distribution of muscle weakness. Creatine kinase was elevated as was also lactate dehydrogenase, aspartate aminotransferase, and alanine aminotransferase. A marked myopia was also present. The mother of 2 of the patients, a presumed carrier of the mutant gene, had evidence of cardiomyopathy without elevated serum muscle enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3806120" 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="#25" class="mim-tip-reference" title="Tripathy, D., Coleman, R. A., Vidaillet, H. J., Jr., Steenbergen, C., Hirschhorn, K., Packer, D. L. <strong>Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity.</strong> Ann. Intern. Med. 109: 985-987, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3057987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3057987</a>] [<a href="https://doi.org/10.7326/0003-4819-109-12-985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3057987">Tripathy et al. (1988)</a> described an 18-year-old black male who developed manifestations of complete atrioventricular nodal block; endomyocardial biopsy showed membrane-bound glycogen resembling the findings of GSD II. The glycogenosis appeared to be limited to the myocardium because the rest of the physical examination, the histology, and enzyme studies of muscle and skin fibroblasts were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3057987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F. <strong>Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.</strong> Neuromusc. Disord. 4: 243-247, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919972</a>] [<a href="https://doi.org/10.1016/0960-8966(94)90025-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7919972">Dworzak et al. (1994)</a> described a Sicilian family in which 3 males and 2 females over 3 generations were affected with lysosomal glycogen storage myopathy with normal acid maltase. Cardiac disease had led to the death of a woman in the first generation and of one of her sons. The proband, his sister, and her son, were alive and had been studied in detail. The index case underwent heart transplant. His 32-year-old sister had atrial fibrillation and mild left ventricular enlargement with systolic dysfunction on echocardiogram. She also had mild intellectual impairment, limb weakness, and mild muscle involvement on muscle biopsy. <a href="#9" class="mim-tip-reference" title="Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F. <strong>Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.</strong> Neuromusc. Disord. 4: 243-247, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919972</a>] [<a href="https://doi.org/10.1016/0960-8966(94)90025-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7919972">Dworzak et al. (1994)</a> stated that this was the first case of a female with multisystem involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7919972" 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 skeletal muscle biopsies from 3 patients with Danon disease, <a href="#14" class="mim-tip-reference" title="Murakami, N., Goto, Y., Itoh, M., Katsumi, Y., Wada, T., Ozawa, E., Nonaka, I. <strong>Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy.</strong> Neuromusc. Disord. 5: 149-155, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539316</a>] [<a href="https://doi.org/10.1016/0960-8966(94)00046-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539316">Murakami et al. (1995)</a> found intracytoplasmic vacuoles with occasional folds or indentations in the sarcolemma that were connected to the membrane enclosing the vacuoles. Immunohistochemical studies showed that the vacuolar membranes contained acetylcholinesterase and proteins of the sarcolemma and basal lamina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539316" 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="#22" class="mim-tip-reference" title="Sugie, K., Yamamoto, A., Murayama, K., Oh, S. J., Takahashi, M., Mora, M., Riggs, J. E., Colomer, J., Iturriaga, C., Meloni, A., Lamperti, C., Saitoh, S., Byrne, E., DiMauro, S., Nonaka, I., Hirano, M., Nishino, I. <strong>Clinicopathological features of genetically confirmed Danon disease.</strong> Neurology 58: 1773-1778, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084876</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084876">Sugie et al. (2002)</a> described the clinicopathologic features of 20 affected men and 18 affected women from 13 families with Danon disease confirmed by genetic analysis. All patients had cardiomyopathy. Men were affected before the age of 20 years, whereas most affected women developed cardiomyopathy in adulthood. Eighteen of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy; 14 of 20 male patients (70%) and 1 of 18 female patients (6%) had mental retardation. Muscle histology revealed basophilic vacuoles that contained acid phosphatase-positive material within membranes that lacked LAMP2. Heart transplantation was the most effective treatment for the otherwise lethal cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12084876" 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="#10" class="mim-tip-reference" title="Laforet, P., Charron, P., Maisonobe, T., Romero, N. B., Villard, E., Sebillon, P., Drouin-Garraud, V., Dubourg, O., Fardeau, M., Komajda, M., Eymard, B. <strong>Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease.</strong> Neurology 63: 1535 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15505188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15505188</a>] [<a href="https://doi.org/10.1212/01.wnl.0000141858.80738.aa" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15505188">Laforet et al. (2004)</a> reported a patient with Danon disease who had features of axonal Charcot-Marie-Tooth disease (see, e.g., CMT2A1; <a href="/entry/118210">118210</a>), including pes cavus, distal muscular atrophy of the lower limb, and distal sensory loss. He also developed progressive visual loss due to retinopathy as a young adult. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15505188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Lobrinus, J. A., Schorderet, D. F., Payot, M., Jeanrenaud, X., Bottani, A., Superti-Furga, A., Schlaepfer, J., Fromer, M., Jeannet, P.-Y. <strong>Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).</strong> Neuromusc. Disord. 15: 293-298, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15792868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15792868</a>] [<a href="https://doi.org/10.1016/j.nmd.2004.12.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15792868">Lobrinus et al. (2005)</a> reported a Swiss family with Danon disease confirmed by genetic analysis. There were 4 affected males and 2 affected females. The proband developed severe left ventricular cardiomyopathy with ventricular arrhythmia in adolescence. He had diffuse muscular atrophy with mild proximal and axial weakness and markedly increased serum creatine kinase. IQ was 76. Two first cousins had mild muscle involvement, normal intelligence, and cardiac involvement with cardiac symptom onset in adolescence. The mother of the 2 cousins died suddenly at age 40 years from cardiomyopathy. Cardiac muscle biopsy from the proband and 1 cousin showed hypertrophic cardiomyocytes with enlarged and irregular nuclei and vacuolated cytoplasm, as well as absence of LAMP2 protein. Electron microscopy showed that the vacuoles contained degenerating mitochondria, glycogen, small vesicles, and granular debris. Although skeletal muscle biopsies from all 3 patients showed normal morphology and normal glycogen content, all had complete absence of the LAMP2 protein. Cytoplasmic vacuoles could be seen in about 10% of skeletal muscle fibers in the proband and in approximately 1% of fibers in 1 cousin. No vacuoles were observed in the skeletal muscle of the other cousin. There was immunoreactivity to complement components C5b-9 of the membrane attack complex in some of the vacuoles, but not on the fiber surface. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15792868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Balmer, C., Ballhausen, D., Bosshard, N. U., Steinmann, B., Boltshauser, E., Bauersfield, U., Superti-Furga, A. <strong>Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene.</strong> Europ. J. Pediat. 164: 509-514, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889279</a>] [<a href="https://doi.org/10.1007/s00431-005-1678-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889279">Balmer et al. (2005)</a> reported a mother and son with Danon disease confirmed by genetic analysis. The boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. His heart disease progressed, resulting in death at age 16 years shortly before planned heart transplantation. His affected mother developed severe dilated cardiomyopathy and died at age 46 years. Postmortem analysis showed fibrosis and necrosis of the myocardium. <a href="#3" class="mim-tip-reference" title="Balmer, C., Ballhausen, D., Bosshard, N. U., Steinmann, B., Boltshauser, E., Bauersfield, U., Superti-Furga, A. <strong>Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene.</strong> Europ. J. Pediat. 164: 509-514, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889279</a>] [<a href="https://doi.org/10.1007/s00431-005-1678-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889279">Balmer et al. (2005)</a> emphasized that cardiac transplantation is the only effective therapeutic option in Danon disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889279" 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="#17" class="mim-tip-reference" title="Prall, F. R., Drack, A., Taylor, M., Ku, L., Olson, J. L., Gregory, D., Mestroni, L., Mandava, N. <strong>Ophthalmic manifestations of Danon disease.</strong> Ophthalmology 113: 1010-1013, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16751040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16751040</a>] [<a href="https://doi.org/10.1016/j.ophtha.2006.02.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16751040">Prall et al. (2006)</a> reported the ophthalmic manifestations of genetically proven Danon disease in 4 females and 2 males. The females demonstrated a peripheral pigmentary retinopathy, lens changes, myopia, abnormal electroretinogram, and abnormal visual fields. The males demonstrated a nearly complete loss of pigment in the retinal pigment epithelium. <a href="#17" class="mim-tip-reference" title="Prall, F. R., Drack, A., Taylor, M., Ku, L., Olson, J. L., Gregory, D., Mestroni, L., Mandava, N. <strong>Ophthalmic manifestations of Danon disease.</strong> Ophthalmology 113: 1010-1013, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16751040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16751040</a>] [<a href="https://doi.org/10.1016/j.ophtha.2006.02.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16751040">Prall et al. (2006)</a> suggested that retinopathy could potentially be used to identify asymptomatic carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16751040" 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="#20" class="mim-tip-reference" title="Schorderet, D. F., Cottet, S., Lobrinus, J. A., Borruat, F.-X., Balmer, A., Munier, F. L. <strong>Retinopathy in Danon disease.</strong> Arch. Ophthal. 125: 231-236, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17296900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17296900</a>] [<a href="https://doi.org/10.1001/archopht.125.2.231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17296900">Schorderet et al. (2007)</a> identified diffuse retinal dysfunction, affecting the cones more than the rods, in 2 brothers and their maternal aunt with Danon disease caused by a mutation in LAMP2. Expression of the disease was milder in the aunt, who was an obligate carrier, than in the hemizygous boys, possibly due to lyonization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17296900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Taylor, M. R. G., Ku, L., Slavov, D., Cavanaugh, J., Boucek, M., Zhu, X., Graw, S., Carniel, E., Barnes, C., Quan, D., Prall, R., Lovell, M. A., Mierau, G., Ruegg, P., Mandava, N., Bristow, M. R., Towbin, J. A., Mestroni, L. <strong>Danon disease presenting with dilated cardiomyopathy and a complex phenotype.</strong> J. Hum. Genet. 52: 830-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17899313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17899313</a>] [<a href="https://doi.org/10.1007/s10038-007-0184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17899313">Taylor et al. (2007)</a> identified genetically confirmed Danon disease (<a href="/entry/309060#0012">309060.0012</a>) in and reported long-term follow-up on the family that presented with dilated cardiomyopathy and was linked to the DMD gene (<a href="/entry/300337">300337</a>) by <a href="#24" class="mim-tip-reference" title="Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R. B., Swift, M. <strong>X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.</strong> Circulation 87: 1854-1865, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8504498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8504498</a>] [<a href="https://doi.org/10.1161/01.cir.87.6.1854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8504498">Towbin et al. (1993)</a>. The original female proband and her 3 sons had dilated cardiomyopathy; subsequently, 3 other male relatives developed severe concentric cardiac hypertrophy associated with Wolff-Parkinson-White syndrome. Other features in this family included skeletal myopathy with high serum creatine kinase, mild cognitive impairment in males, and a pigmentary retinopathy in females. Cardiac biopsy specimens showed extensive vacuolar changes in an affected adult male, but the skeletal muscle biopsy in a 13-month-old mutation-carrying male showed no vacuolization by standard histology. <a href="#23" class="mim-tip-reference" title="Taylor, M. R. G., Ku, L., Slavov, D., Cavanaugh, J., Boucek, M., Zhu, X., Graw, S., Carniel, E., Barnes, C., Quan, D., Prall, R., Lovell, M. A., Mierau, G., Ruegg, P., Mandava, N., Bristow, M. R., Towbin, J. A., Mestroni, L. <strong>Danon disease presenting with dilated cardiomyopathy and a complex phenotype.</strong> J. Hum. Genet. 52: 830-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17899313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17899313</a>] [<a href="https://doi.org/10.1007/s10038-007-0184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17899313">Taylor et al. (2007)</a> concluded that X-linked dilated cardiomyopathy may be the presenting sign of Danon syndrome and that the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8504498+17899313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Maron, B. J., Roberts, W. C., Arad, M., Haas, T. S., Spirito, P., Wright, G. B., Almquist, A. K., Baffa, J. M., Saul, J. P., Ho, C. Y., Seidman, J., Seidman, C. E. <strong>Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.</strong> JAMA 301: 1253-1259, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318653</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19318653[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1001/jama.2009.371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19318653">Maron et al. (2009)</a> reported the clinical course and outcome of 7 young patients (6 boys and 1 girl) in whom LAMP2 mutations were previously identified by <a href="#2" class="mim-tip-reference" title="Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G. <strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 352: 362-372, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15673802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15673802</a>] [<a href="https://doi.org/10.1056/NEJMoa033349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15673802">Arad et al. (2005)</a>. Over a mean follow-up period of 8.6 years and by ages 14 to 24 years, the patients developed left ventricular systolic dysfunction and cavity enlargement, with adverse clinical consequences including death from progressive refractory heart failure in 4 patients, sudden death in 1, aborted cardiac arrest in 1, and cardiac transplantation in 1. Left ventricular hypertrophy was particularly marked, with massive ventricular septal thickness in 2 patients of 60 mm and 65 mm at age 23 and 14 years, respectively. In 6 patients, a ventricular preexcitation pattern at study entry was associated with markedly increased R-wave or S-wave voltages and deeply inverted T-waves. Autopsy findings included a combination of histopathologic features that were consistent with lysosomal storage disease, such as clusters of vacuolated myocytes, but also typical of CMH due to sarcomere protein mutations (see, e.g., <a href="/entry/192600">192600</a>), such as myocyte disarray, small vessel disease, and myocardial scarring. <a href="#12" class="mim-tip-reference" title="Maron, B. J., Roberts, W. C., Arad, M., Haas, T. S., Spirito, P., Wright, G. B., Almquist, A. K., Baffa, J. M., Saul, J. P., Ho, C. Y., Seidman, J., Seidman, C. E. <strong>Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.</strong> JAMA 301: 1253-1259, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318653</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19318653[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1001/jama.2009.371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19318653">Maron et al. (2009)</a> noted that 7 female LAMP2 obligate carriers in 2 of the families, aged 19 to 51 years, had remained asymptomatic, underscoring the striking differences in clinical phenotypes and outcomes between female carriers and affected male patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19318653+15673802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Boucek, D., Jirikowic, J., Taylor, M. <strong>Natural history of Danon disease.</strong> Genet. Med. 13: 563-568, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415759</a>] [<a href="https://doi.org/10.1097/GIM.0b013e31820ad795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415759">Boucek et al. (2011)</a> presented data on 82 patients with Danon disease from 36 families. Men were severely affected with cognitive disabilities (100%), hypertrophic cardiomyopathy (88%), and muscle weakness (80%). Men had a high morbidity and were unlikely to reach the age of 25 years without a cardiac transplantation. Women were less severely affected but reported higher than expected levels of cognitive (47%) and skeletal muscle complaints (50%) and manifesting an equal prevalence of dilated cardiomyopathy and hypertrophic cardiomyopathy. Combining their data with that of 63 other Danon disease case reports in the literature, <a href="#5" class="mim-tip-reference" title="Boucek, D., Jirikowic, J., Taylor, M. <strong>Natural history of Danon disease.</strong> Genet. Med. 13: 563-568, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415759</a>] [<a href="https://doi.org/10.1097/GIM.0b013e31820ad795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415759">Boucek et al. (2011)</a> determined that the average ages of first symptom, cardiac transplantation, and death were 12.1, 17.9, and 19.0 years in men and 27.9, 33.7, and 34.6 years in women, respectively. <a href="#5" class="mim-tip-reference" title="Boucek, D., Jirikowic, J., Taylor, M. <strong>Natural history of Danon disease.</strong> Genet. Med. 13: 563-568, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415759</a>] [<a href="https://doi.org/10.1097/GIM.0b013e31820ad795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415759">Boucek et al. (2011)</a> concluded that women with Danon disease present with clinical symptoms and events approximately 15 years after men and report a higher proportion of cognitive and skeletal muscle problems than had been recognized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21415759" 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="#19" class="mim-tip-reference" title="Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M. <strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong> Molec. Genet. Metab. 123: 177-183, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28822614">Roos et al. (2018)</a> reported 4 males and 3 females from a family with variable features of Danon disease. The proband (patient A) had exercise-induced myalgia, learning and behavioral difficulties, elevated ALT, and elevated creatine kinase since childhood. At 16 years of age he was diagnosed with left ventricular hypertrophy. He had a cardioverter-defibrillator (ICD) implanted, but at age 20 years he had recurrent ventricular arrhythmias and died at age 21. Patient B, a younger brother of patient A, had mild learning difficulties and was diagnosed with left ventricular hypertrophy at age 16 years. He had ventricular tachycardia and was treated with amiodarone, which resulted in thyrotoxicosis. An ICD was placed, but he died from cardiac arrest at age 23. Patient C, the youngest brother of patient A, had poor educational attainment and severe recurrent tachycardias. An ICD was placed and he was treated with amiodarone, which caused thyrotoxicosis. Their mother, maternal aunt, and grandmother developed mild ventricular impairment and atrial fibrillation in the fifth decade of life, and the grandmother died of cardiac failure at age 76. A male first cousin had mild myalgias with exercise and required cardioversion at age 36 years. <a href="#19" class="mim-tip-reference" title="Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M. <strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong> Molec. Genet. Metab. 123: 177-183, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28822614">Roos et al. (2018)</a> noted that in the 3 male sibs and their mother, steady-state troponin I (see <a href="/entry/191044">191044</a>) concentrations were strikingly elevated, whereas they were significantly lower in the aunt and mildly affected cousin. This observation led <a href="#19" class="mim-tip-reference" title="Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M. <strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong> Molec. Genet. Metab. 123: 177-183, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28822614">Roos et al. (2018)</a> to hypothesize that troponin I may serve as a biomarker for cardiomyopathy in Danon disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28822614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A. <strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong> Brain 109: 523-536, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087571</a>] [<a href="https://doi.org/10.1093/brain/109.3.523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3087571">Byrne et al. (1986)</a> described a family in which 7 members of 3 generations had cardioskeletal myopathy with accumulation of glycogen in lysosomes but normal acid maltase levels. Cardiomyopathy dominated the clinical picture with death between ages 18 and 40 years. There was no male-to-male transmission, but 3 affected females were as severely affected as the 4 males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3087571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F. <strong>Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.</strong> Neuromusc. Disord. 4: 243-247, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919972</a>] [<a href="https://doi.org/10.1016/0960-8966(94)90025-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7919972">Dworzak et al. (1994)</a> found reports of 12 young boys with mild myopathy, varying degrees of mental retardation, and severe cardiomyopathy, whose skeletal muscle examination showed lysosomal glycogen storage not due to acid maltase deficiency. Only 2 cases were sporadic. All of the 10 other cases had a brother or male relative in the maternal line who was either equally affected or had died from heart disease in the second decade. In most cases females were also affected, but cardiomyopathy was the only reported phenotypic expression. The females generally died in the fourth decade. The pattern suggested X-linked dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7919972" 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 10 unrelated patients with Danon disease, <a href="#16" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified 10 different mutations in the LAMP2 gene (see, e.g., <a href="/entry/309060#0001">309060.0001</a>-<a href="/entry/309060#0006">309060.0006</a>). All of the mutations resulted in premature termination of the LAMP2 protein. Several patients had previously been reported by <a href="#8" class="mim-tip-reference" title="Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H. <strong>Lysosomal glycogen storage disease with normal acid maltase.</strong> Neurology 31: 51-57, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6450334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6450334</a>] [<a href="https://doi.org/10.1212/wnl.31.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6450334">Danon et al. (1981)</a>, <a href="#9" class="mim-tip-reference" title="Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F. <strong>Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.</strong> Neuromusc. Disord. 4: 243-247, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919972</a>] [<a href="https://doi.org/10.1016/0960-8966(94)90025-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7919972">Dworzak et al. (1994)</a>, <a href="#18" class="mim-tip-reference" title="Riggs, J. E., Schochet, S. S., Jr., Gutmann, L., Shanske, S., Neal, W. A., DiMauro, S. <strong>Lysosomal glycogen storage disease without acid maltase deficiency.</strong> Neurology 33: 873-877, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6408499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6408499</a>] [<a href="https://doi.org/10.1212/wnl.33.7.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6408499">Riggs et al. (1983)</a>, and <a href="#6" class="mim-tip-reference" title="Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A. <strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong> Brain 109: 523-536, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087571</a>] [<a href="https://doi.org/10.1093/brain/109.3.523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3087571">Byrne et al. (1986)</a>. Western blot analysis of skeletal muscle biopsies from the patients showed marked deficiency or complete absence of the LAMP2 protein. From these results, and the finding that Lamp2-deficient mice manifest a singular vacuolar cardioskeletal myopathy, <a href="#16" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> concluded that primary LAMP2 deficiency is the cause of Danon disease. The authors stated that this was the first example of human cardiomyopathy caused by mutations in a lysosomal structural protein rather than an enzymatic protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6408499+6450334+7919972+10972294+3087571" 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="Charron, P., Villard, E., Sebillon, P., Laforet, P., Maisonobe, T., Duboscq-Bidot, L., Romero, N., Drouin-Garraud, V., Frebourg, T., Richard, P., Eymard, B., Komajda, M. <strong>Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.</strong> Heart 90: 842-846, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15253947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15253947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15253947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/hrt.2003.029504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15253947">Charron et al. (2004)</a> analyzed the LAMP2 gene in 50 patients with hypertrophic cardiomyopathy (CMH; see <a href="/entry/192600">192600</a>) who were negative for mutations in 9 sarcomeric genes and did not have autosomal dominant inheritance. The authors identified 2 different mutations in the LAMP2 gene (<a href="/entry/309060#0008">309060.0008</a> and <a href="/entry/309060#0009">309060.0009</a>) in 2 patients, both with skeletal muscle weakness on examination and PAS-positive sarcoplasmic vacuoles on skeletal muscle biopsy by light microscopy, who died at ages 22 and 25 years, respectively. The prevalence of Danon disease was therefore 1% of patients with CMH (2 of 197 patients initially screened with CMH in this study) or 4% of enrolled index cases (2 of 50 index patients who were screened for LAMP2 mutations). Danon disease was responsible for 50% of the cases of CMH with clinical skeletal myopathy (2 of 4 patients); none of the 41 patients with isolated CMH had Danon disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15253947" 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 genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiogram suggesting ventricular preexcitation, <a href="#2" class="mim-tip-reference" title="Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G. <strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 352: 362-372, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15673802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15673802</a>] [<a href="https://doi.org/10.1056/NEJMoa033349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15673802">Arad et al. (2005)</a> found 4 LAMP2 mutations (see, e.g., <a href="/entry/309060#0010">309060.0010</a>). Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of 2 serum proteins. Mutations in heterozygous state appeared to be responsible for unusual heart disease in some females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15673802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the family (XLCM-2) that presented with dilated cardiomyopathy and was linked to the DMD gene by <a href="#24" class="mim-tip-reference" title="Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R. B., Swift, M. <strong>X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.</strong> Circulation 87: 1854-1865, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8504498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8504498</a>] [<a href="https://doi.org/10.1161/01.cir.87.6.1854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8504498">Towbin et al. (1993)</a>, <a href="#23" class="mim-tip-reference" title="Taylor, M. R. G., Ku, L., Slavov, D., Cavanaugh, J., Boucek, M., Zhu, X., Graw, S., Carniel, E., Barnes, C., Quan, D., Prall, R., Lovell, M. A., Mierau, G., Ruegg, P., Mandava, N., Bristow, M. R., Towbin, J. A., Mestroni, L. <strong>Danon disease presenting with dilated cardiomyopathy and a complex phenotype.</strong> J. Hum. Genet. 52: 830-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17899313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17899313</a>] [<a href="https://doi.org/10.1007/s10038-007-0184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17899313">Taylor et al. (2007)</a> identified a 1-bp deletion in the LAMP2 gene (<a href="/entry/309060#0012">309060.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8504498+17899313" 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="#19" class="mim-tip-reference" title="Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M. <strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong> Molec. Genet. Metab. 123: 177-183, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28822614">Roos et al. (2018)</a> identified hemizygosity or heterozygosity for a splicing mutation in the LAMP2 gene (<a href="/entry/309060#0013">309060.0013</a>) in 4 males and 3 females from a family with variable features of Danon disease. LAMP2 expression was decreased in fibroblasts from the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28822614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a male patient with hypertrophic cardiomyopathy, exercise intolerance, and hyperCKemia consistent with a mild form of Danon disease, <a href="#15" class="mim-tip-reference" title="Musumeci, O., Rodolico, C., Nishino, I., Di Guardo, G., Migliorato, A., Aguennouz, M., Mazzeo, A., Messina, C., Vita, G., Toscano, A. <strong>Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in the Lamp-2 gene.</strong> Neuromusc. Disord. 15: 409-411, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15907287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15907287</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.02.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15907287">Musumeci et al. (2005)</a> identified a missense mutation in the LAMP2 gene (<a href="/entry/309060#0011">309060.0011</a>). The patient did not have muscle weakness or mental retardation. <a href="#15" class="mim-tip-reference" title="Musumeci, O., Rodolico, C., Nishino, I., Di Guardo, G., Migliorato, A., Aguennouz, M., Mazzeo, A., Messina, C., Vita, G., Toscano, A. <strong>Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in the Lamp-2 gene.</strong> Neuromusc. Disord. 15: 409-411, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15907287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15907287</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.02.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15907287">Musumeci et al. (2005)</a> noted that all previous mutations in the LAMP2 gene causing Danon disease resulted in premature termination of the protein, and stated that this was the first missense mutation reported in the LAMP2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15907287" 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>Although this disorder was originally described as a type of glycogen storage disease, <a href="#8" class="mim-tip-reference" title="Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H. <strong>Lysosomal glycogen storage disease with normal acid maltase.</strong> Neurology 31: 51-57, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6450334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6450334</a>] [<a href="https://doi.org/10.1212/wnl.31.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6450334">Danon et al. (1981)</a> recognized that acid alpha-glucosidase and other enzymes of glycogen metabolism were normal in affected patients. The subsequent identification of the structural lysosome-associated membrane protein-2 gene as responsible for the disorder enabled the proper identification of Danon disease as resulting from a defect of the lysosomal membrane (<a href="#16" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al., 2000</a>). Former designations for this disorder are retained here for historical purposes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10972294+6450334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1212/wnl.31.1.51" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16751040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16751040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16751040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ophtha.2006.02.030" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Riggs1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Riggs, J. E., Schochet, S. S., Jr., Gutmann, L., Shanske, S., Neal, W. A., DiMauro, S.
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|
<strong>Lysosomal glycogen storage disease without acid maltase deficiency.</strong>
|
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Neurology 33: 873-877, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6408499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6408499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6408499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.33.7.873" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Roos2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M.
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<strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong>
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Molec. Genet. Metab. 123: 177-183, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[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=28822614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2017.06.008" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Schorderet2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schorderet, D. F., Cottet, S., Lobrinus, J. A., Borruat, F.-X., Balmer, A., Munier, F. L.
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<strong>Retinopathy in Danon disease.</strong>
|
|
Arch. Ophthal. 125: 231-236, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17296900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17296900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17296900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.125.2.231" target="_blank">Full Text</a>]
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Sugie2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sugie, K., Noguchi, S., Kozuka, Y., Arikawa-Hirasawa, E., Tanaka, M., Yan, C., Saftig, P., von Figura, K., Hirano, M., Ueno, S., Nonaka, I., Nishino, I.
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<strong>Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.</strong>
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J. Neuropath. Exp. Neurol. 64: 513-522, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15977643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15977643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15977643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/jnen/64.6.513" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Sugie2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sugie, K., Yamamoto, A., Murayama, K., Oh, S. J., Takahashi, M., Mora, M., Riggs, J. E., Colomer, J., Iturriaga, C., Meloni, A., Lamperti, C., Saitoh, S., Byrne, E., DiMauro, S., Nonaka, I., Hirano, M., Nishino, I.
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<strong>Clinicopathological features of genetically confirmed Danon disease.</strong>
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Neurology 58: 1773-1778, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12084876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.58.12.1773" target="_blank">Full Text</a>]
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Taylor2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taylor, M. R. G., Ku, L., Slavov, D., Cavanaugh, J., Boucek, M., Zhu, X., Graw, S., Carniel, E., Barnes, C., Quan, D., Prall, R., Lovell, M. A., Mierau, G., Ruegg, P., Mandava, N., Bristow, M. R., Towbin, J. A., Mestroni, L.
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<strong>Danon disease presenting with dilated cardiomyopathy and a complex phenotype.</strong>
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J. Hum. Genet. 52: 830-835, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17899313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17899313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17899313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-007-0184-8" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Towbin1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R. B., Swift, M.
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<strong>X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.</strong>
|
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Circulation 87: 1854-1865, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8504498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8504498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8504498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.cir.87.6.1854" target="_blank">Full Text</a>]
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Tripathy1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tripathy, D., Coleman, R. A., Vidaillet, H. J., Jr., Steenbergen, C., Hirschhorn, K., Packer, D. L.
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<strong>Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity.</strong>
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Ann. Intern. Med. 109: 985-987, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3057987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3057987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3057987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.7326/0003-4819-109-12-985" target="_blank">Full Text</a>]
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</ol>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 10/15/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 10/1/2012<br>Marla J. F. O'Neill - updated : 5/10/2010<br>Marla J. F. O'Neill - updated : 3/20/2008<br>Jane Kelly - updated : 12/5/2007<br>Marla J. F. O'Neill - updated : 9/6/2007<br>Jane Kelly - updated : 3/23/2007<br>Cassandra L. Kniffin - reorganized : 8/8/2005<br>Cassandra L. Kniffin - updated : 7/27/2005<br>Victor A. McKusick - updated : 2/17/2005<br>Victor A. McKusick - updated : 9/18/2002<br>Victor A. McKusick - updated : 11/2/2001<br>Ada Hamosh - updated : 8/31/2000<br>Victor A. McKusick - updated : 7/19/1999<br>Victor A. McKusick - updated : 10/20/1997
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/15/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/22/2020<br>alopez : 09/19/2016<br>carol : 09/11/2013<br>tpirozzi : 6/28/2013<br>alopez : 6/27/2013<br>alopez : 10/3/2012<br>terry : 10/1/2012<br>wwang : 5/12/2010<br>terry : 5/10/2010<br>wwang : 3/27/2008<br>terry : 3/20/2008<br>carol : 12/5/2007<br>carol : 11/13/2007<br>ckniffin : 11/13/2007<br>carol : 9/6/2007<br>carol : 5/30/2007<br>carol : 3/23/2007<br>carol : 12/8/2005<br>ckniffin : 8/8/2005<br>carol : 8/8/2005<br>ckniffin : 7/27/2005<br>tkritzer : 5/12/2005<br>tkritzer : 2/23/2005<br>terry : 2/17/2005<br>carol : 10/21/2004<br>carol : 10/21/2004<br>ckniffin : 7/29/2004<br>carol : 9/23/2002<br>tkritzer : 9/23/2002<br>tkritzer : 9/18/2002<br>tkritzer : 9/18/2002<br>carol : 11/8/2001<br>mcapotos : 11/2/2001<br>mgross : 9/1/2000<br>mgross : 8/31/2000
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>#</strong> 300257
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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DANON DISEASE
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED<br />
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PSEUDOGLYCOGENOSIS II<br />
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ANTOPOL DISEASE<br />
|
|
LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY<br />
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|
GLYCOGEN STORAGE DISEASE IIb; GSD2B, FORMERLY<br />
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|
GSD IIb, FORMERLY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 419097006;
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<strong>ICD10CM:</strong> E74.05;
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<strong>ORPHA:</strong> 34587;
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<strong>DO:</strong> 0050437;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Xq24
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Danon disease
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
300257
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
X-linked dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
3
|
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</span>
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</td>
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LAMP2
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309060
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Danon disease, also known as X-linked vacuolar cardiomyopathy and myopathy, is caused by mutation in the LAMP2 gene (309060), which encodes lysosome-associated membrane protein-2, on chromosome Xq24.</p>
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<strong>Description</strong>
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<p>Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; 232300) with 'normal acid maltase' or alpha-glucosidase (GAA; 606800) (Danon et al., 1981). However, Nishino et al. (2000) stated that Danon disease is not a glycogen storage disease because glycogen is not always increased. </p><p>Sugie et al. (2005) classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity. </p><p>X-linked myopathy with excessive autophagy (XMEA; 310440) is a distinct disorder with similar pathologic features.</p>
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<strong>Clinical Features</strong>
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<p>Antopol et al. (1940) described 2 brothers who died in the second decade of life with heart failure. Autopsy of 1 patient showed glycogen storage disease limited to the myocardium. Mehrizi and Oppenheimer (1960) reported 2 related patients with heart failure associated with unusual deposition of glycogen in the myocardium.</p><p>Danon et al. (1981) reported 2 unrelated males with mental retardation, hypertrophic cardiomyopathy, and proximal muscle weakness. One patient had hepatomegaly. Examination of skeletal muscle biopsies showed features suggestive of a lysosomal glycogen storage disease. However, acid alpha-glucosidase activity was normal, excluding a diagnosis of Pompe disease, or glycogen storage disease type II (GSD II). Both patients died at the age of 17 years. Riggs et al. (1983) described lysosomal storage disease with normal acid maltase activity in 2 brothers. One of the brothers showed muscle weakness at age 3 years. Both patients had Wolff-Parkinson-White electrocardiographic findings. </p><p>Bergia et al. (1986) reported a kindred in which 2 sisters gave birth to a total of 3 sons with mental retardation, scapuloperoneal muscular weakness, and hypertrophic cardiomyopathy. Intellectual deterioration began at about age 5 years. Hypertrophic cardiomyopathy manifesting itself in the teens led to death at ages 17 and 21 years in 2 of the patients. On evaluation in their teens, the affected males showed wasting of distal muscle groups, positive Gowers maneuver, and predominant humeroperoneal distribution of muscle weakness. Creatine kinase was elevated as was also lactate dehydrogenase, aspartate aminotransferase, and alanine aminotransferase. A marked myopia was also present. The mother of 2 of the patients, a presumed carrier of the mutant gene, had evidence of cardiomyopathy without elevated serum muscle enzymes. </p><p>Tripathy et al. (1988) described an 18-year-old black male who developed manifestations of complete atrioventricular nodal block; endomyocardial biopsy showed membrane-bound glycogen resembling the findings of GSD II. The glycogenosis appeared to be limited to the myocardium because the rest of the physical examination, the histology, and enzyme studies of muscle and skin fibroblasts were normal. </p><p>Dworzak et al. (1994) described a Sicilian family in which 3 males and 2 females over 3 generations were affected with lysosomal glycogen storage myopathy with normal acid maltase. Cardiac disease had led to the death of a woman in the first generation and of one of her sons. The proband, his sister, and her son, were alive and had been studied in detail. The index case underwent heart transplant. His 32-year-old sister had atrial fibrillation and mild left ventricular enlargement with systolic dysfunction on echocardiogram. She also had mild intellectual impairment, limb weakness, and mild muscle involvement on muscle biopsy. Dworzak et al. (1994) stated that this was the first case of a female with multisystem involvement. </p><p>In skeletal muscle biopsies from 3 patients with Danon disease, Murakami et al. (1995) found intracytoplasmic vacuoles with occasional folds or indentations in the sarcolemma that were connected to the membrane enclosing the vacuoles. Immunohistochemical studies showed that the vacuolar membranes contained acetylcholinesterase and proteins of the sarcolemma and basal lamina. </p><p>Sugie et al. (2002) described the clinicopathologic features of 20 affected men and 18 affected women from 13 families with Danon disease confirmed by genetic analysis. All patients had cardiomyopathy. Men were affected before the age of 20 years, whereas most affected women developed cardiomyopathy in adulthood. Eighteen of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy; 14 of 20 male patients (70%) and 1 of 18 female patients (6%) had mental retardation. Muscle histology revealed basophilic vacuoles that contained acid phosphatase-positive material within membranes that lacked LAMP2. Heart transplantation was the most effective treatment for the otherwise lethal cardiomyopathy. </p><p>Laforet et al. (2004) reported a patient with Danon disease who had features of axonal Charcot-Marie-Tooth disease (see, e.g., CMT2A1; 118210), including pes cavus, distal muscular atrophy of the lower limb, and distal sensory loss. He also developed progressive visual loss due to retinopathy as a young adult. </p><p>Lobrinus et al. (2005) reported a Swiss family with Danon disease confirmed by genetic analysis. There were 4 affected males and 2 affected females. The proband developed severe left ventricular cardiomyopathy with ventricular arrhythmia in adolescence. He had diffuse muscular atrophy with mild proximal and axial weakness and markedly increased serum creatine kinase. IQ was 76. Two first cousins had mild muscle involvement, normal intelligence, and cardiac involvement with cardiac symptom onset in adolescence. The mother of the 2 cousins died suddenly at age 40 years from cardiomyopathy. Cardiac muscle biopsy from the proband and 1 cousin showed hypertrophic cardiomyocytes with enlarged and irregular nuclei and vacuolated cytoplasm, as well as absence of LAMP2 protein. Electron microscopy showed that the vacuoles contained degenerating mitochondria, glycogen, small vesicles, and granular debris. Although skeletal muscle biopsies from all 3 patients showed normal morphology and normal glycogen content, all had complete absence of the LAMP2 protein. Cytoplasmic vacuoles could be seen in about 10% of skeletal muscle fibers in the proband and in approximately 1% of fibers in 1 cousin. No vacuoles were observed in the skeletal muscle of the other cousin. There was immunoreactivity to complement components C5b-9 of the membrane attack complex in some of the vacuoles, but not on the fiber surface. </p><p>Balmer et al. (2005) reported a mother and son with Danon disease confirmed by genetic analysis. The boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. His heart disease progressed, resulting in death at age 16 years shortly before planned heart transplantation. His affected mother developed severe dilated cardiomyopathy and died at age 46 years. Postmortem analysis showed fibrosis and necrosis of the myocardium. Balmer et al. (2005) emphasized that cardiac transplantation is the only effective therapeutic option in Danon disease. </p><p>Prall et al. (2006) reported the ophthalmic manifestations of genetically proven Danon disease in 4 females and 2 males. The females demonstrated a peripheral pigmentary retinopathy, lens changes, myopia, abnormal electroretinogram, and abnormal visual fields. The males demonstrated a nearly complete loss of pigment in the retinal pigment epithelium. Prall et al. (2006) suggested that retinopathy could potentially be used to identify asymptomatic carriers. </p><p>Schorderet et al. (2007) identified diffuse retinal dysfunction, affecting the cones more than the rods, in 2 brothers and their maternal aunt with Danon disease caused by a mutation in LAMP2. Expression of the disease was milder in the aunt, who was an obligate carrier, than in the hemizygous boys, possibly due to lyonization. </p><p>Taylor et al. (2007) identified genetically confirmed Danon disease (309060.0012) in and reported long-term follow-up on the family that presented with dilated cardiomyopathy and was linked to the DMD gene (300337) by Towbin et al. (1993). The original female proband and her 3 sons had dilated cardiomyopathy; subsequently, 3 other male relatives developed severe concentric cardiac hypertrophy associated with Wolff-Parkinson-White syndrome. Other features in this family included skeletal myopathy with high serum creatine kinase, mild cognitive impairment in males, and a pigmentary retinopathy in females. Cardiac biopsy specimens showed extensive vacuolar changes in an affected adult male, but the skeletal muscle biopsy in a 13-month-old mutation-carrying male showed no vacuolization by standard histology. Taylor et al. (2007) concluded that X-linked dilated cardiomyopathy may be the presenting sign of Danon syndrome and that the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease. </p><p>Maron et al. (2009) reported the clinical course and outcome of 7 young patients (6 boys and 1 girl) in whom LAMP2 mutations were previously identified by Arad et al. (2005). Over a mean follow-up period of 8.6 years and by ages 14 to 24 years, the patients developed left ventricular systolic dysfunction and cavity enlargement, with adverse clinical consequences including death from progressive refractory heart failure in 4 patients, sudden death in 1, aborted cardiac arrest in 1, and cardiac transplantation in 1. Left ventricular hypertrophy was particularly marked, with massive ventricular septal thickness in 2 patients of 60 mm and 65 mm at age 23 and 14 years, respectively. In 6 patients, a ventricular preexcitation pattern at study entry was associated with markedly increased R-wave or S-wave voltages and deeply inverted T-waves. Autopsy findings included a combination of histopathologic features that were consistent with lysosomal storage disease, such as clusters of vacuolated myocytes, but also typical of CMH due to sarcomere protein mutations (see, e.g., 192600), such as myocyte disarray, small vessel disease, and myocardial scarring. Maron et al. (2009) noted that 7 female LAMP2 obligate carriers in 2 of the families, aged 19 to 51 years, had remained asymptomatic, underscoring the striking differences in clinical phenotypes and outcomes between female carriers and affected male patients. </p><p>Boucek et al. (2011) presented data on 82 patients with Danon disease from 36 families. Men were severely affected with cognitive disabilities (100%), hypertrophic cardiomyopathy (88%), and muscle weakness (80%). Men had a high morbidity and were unlikely to reach the age of 25 years without a cardiac transplantation. Women were less severely affected but reported higher than expected levels of cognitive (47%) and skeletal muscle complaints (50%) and manifesting an equal prevalence of dilated cardiomyopathy and hypertrophic cardiomyopathy. Combining their data with that of 63 other Danon disease case reports in the literature, Boucek et al. (2011) determined that the average ages of first symptom, cardiac transplantation, and death were 12.1, 17.9, and 19.0 years in men and 27.9, 33.7, and 34.6 years in women, respectively. Boucek et al. (2011) concluded that women with Danon disease present with clinical symptoms and events approximately 15 years after men and report a higher proportion of cognitive and skeletal muscle problems than had been recognized. </p><p>Roos et al. (2018) reported 4 males and 3 females from a family with variable features of Danon disease. The proband (patient A) had exercise-induced myalgia, learning and behavioral difficulties, elevated ALT, and elevated creatine kinase since childhood. At 16 years of age he was diagnosed with left ventricular hypertrophy. He had a cardioverter-defibrillator (ICD) implanted, but at age 20 years he had recurrent ventricular arrhythmias and died at age 21. Patient B, a younger brother of patient A, had mild learning difficulties and was diagnosed with left ventricular hypertrophy at age 16 years. He had ventricular tachycardia and was treated with amiodarone, which resulted in thyrotoxicosis. An ICD was placed, but he died from cardiac arrest at age 23. Patient C, the youngest brother of patient A, had poor educational attainment and severe recurrent tachycardias. An ICD was placed and he was treated with amiodarone, which caused thyrotoxicosis. Their mother, maternal aunt, and grandmother developed mild ventricular impairment and atrial fibrillation in the fifth decade of life, and the grandmother died of cardiac failure at age 76. A male first cousin had mild myalgias with exercise and required cardioversion at age 36 years. Roos et al. (2018) noted that in the 3 male sibs and their mother, steady-state troponin I (see 191044) concentrations were strikingly elevated, whereas they were significantly lower in the aunt and mildly affected cousin. This observation led Roos et al. (2018) to hypothesize that troponin I may serve as a biomarker for cardiomyopathy in Danon disease. </p>
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<strong>Inheritance</strong>
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<p>Byrne et al. (1986) described a family in which 7 members of 3 generations had cardioskeletal myopathy with accumulation of glycogen in lysosomes but normal acid maltase levels. Cardiomyopathy dominated the clinical picture with death between ages 18 and 40 years. There was no male-to-male transmission, but 3 affected females were as severely affected as the 4 males. </p><p>Dworzak et al. (1994) found reports of 12 young boys with mild myopathy, varying degrees of mental retardation, and severe cardiomyopathy, whose skeletal muscle examination showed lysosomal glycogen storage not due to acid maltase deficiency. Only 2 cases were sporadic. All of the 10 other cases had a brother or male relative in the maternal line who was either equally affected or had died from heart disease in the second decade. In most cases females were also affected, but cardiomyopathy was the only reported phenotypic expression. The females generally died in the fourth decade. The pattern suggested X-linked dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 10 unrelated patients with Danon disease, Nishino et al. (2000) identified 10 different mutations in the LAMP2 gene (see, e.g., 309060.0001-309060.0006). All of the mutations resulted in premature termination of the LAMP2 protein. Several patients had previously been reported by Danon et al. (1981), Dworzak et al. (1994), Riggs et al. (1983), and Byrne et al. (1986). Western blot analysis of skeletal muscle biopsies from the patients showed marked deficiency or complete absence of the LAMP2 protein. From these results, and the finding that Lamp2-deficient mice manifest a singular vacuolar cardioskeletal myopathy, Nishino et al. (2000) concluded that primary LAMP2 deficiency is the cause of Danon disease. The authors stated that this was the first example of human cardiomyopathy caused by mutations in a lysosomal structural protein rather than an enzymatic protein. </p><p>Charron et al. (2004) analyzed the LAMP2 gene in 50 patients with hypertrophic cardiomyopathy (CMH; see 192600) who were negative for mutations in 9 sarcomeric genes and did not have autosomal dominant inheritance. The authors identified 2 different mutations in the LAMP2 gene (309060.0008 and 309060.0009) in 2 patients, both with skeletal muscle weakness on examination and PAS-positive sarcoplasmic vacuoles on skeletal muscle biopsy by light microscopy, who died at ages 22 and 25 years, respectively. The prevalence of Danon disease was therefore 1% of patients with CMH (2 of 197 patients initially screened with CMH in this study) or 4% of enrolled index cases (2 of 50 index patients who were screened for LAMP2 mutations). Danon disease was responsible for 50% of the cases of CMH with clinical skeletal myopathy (2 of 4 patients); none of the 41 patients with isolated CMH had Danon disease. </p><p>In genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiogram suggesting ventricular preexcitation, Arad et al. (2005) found 4 LAMP2 mutations (see, e.g., 309060.0010). Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of 2 serum proteins. Mutations in heterozygous state appeared to be responsible for unusual heart disease in some females. </p><p>In the family (XLCM-2) that presented with dilated cardiomyopathy and was linked to the DMD gene by Towbin et al. (1993), Taylor et al. (2007) identified a 1-bp deletion in the LAMP2 gene (309060.0012). </p><p>Roos et al. (2018) identified hemizygosity or heterozygosity for a splicing mutation in the LAMP2 gene (309060.0013) in 4 males and 3 females from a family with variable features of Danon disease. LAMP2 expression was decreased in fibroblasts from the proband. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>In a male patient with hypertrophic cardiomyopathy, exercise intolerance, and hyperCKemia consistent with a mild form of Danon disease, Musumeci et al. (2005) identified a missense mutation in the LAMP2 gene (309060.0011). The patient did not have muscle weakness or mental retardation. Musumeci et al. (2005) noted that all previous mutations in the LAMP2 gene causing Danon disease resulted in premature termination of the protein, and stated that this was the first missense mutation reported in the LAMP2 gene. </p>
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<strong>Nomenclature</strong>
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<p>Although this disorder was originally described as a type of glycogen storage disease, Danon et al. (1981) recognized that acid alpha-glucosidase and other enzymes of glycogen metabolism were normal in affected patients. The subsequent identification of the structural lysosome-associated membrane protein-2 gene as responsible for the disorder enabled the proper identification of Danon disease as resulting from a defect of the lysosomal membrane (Nishino et al., 2000). Former designations for this disorder are retained here for historical purposes. </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Antopol, W., Boas, E. P., Levison, W., Tuchman, L. R.
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<strong>Cardiac hypertrophy caused by glycogen storage disease in a 15-year-old boy.</strong>
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Am. Heart J. 20: 546-556, 1940.
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Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G.
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<strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong>
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New Eng. J. Med. 352: 362-372, 2005.
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[PubMed: 15673802]
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[Full Text: https://doi.org/10.1056/NEJMoa033349]
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Balmer, C., Ballhausen, D., Bosshard, N. U., Steinmann, B., Boltshauser, E., Bauersfield, U., Superti-Furga, A.
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<strong>Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene.</strong>
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Europ. J. Pediat. 164: 509-514, 2005.
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[PubMed: 15889279]
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[Full Text: https://doi.org/10.1007/s00431-005-1678-z]
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<p class="mim-text-font">
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Bergia, B., Sybers, H. D., Butler, I. J.
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<strong>Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.</strong>
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J. Neurol. Neurosurg. Psychiat. 49: 1423-1426, 1986.
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[PubMed: 3806120]
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[Full Text: https://doi.org/10.1136/jnnp.49.12.1423]
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<p class="mim-text-font">
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Boucek, D., Jirikowic, J., Taylor, M.
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<strong>Natural history of Danon disease.</strong>
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Genet. Med. 13: 563-568, 2011.
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[PubMed: 21415759]
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[Full Text: https://doi.org/10.1097/GIM.0b013e31820ad795]
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<p class="mim-text-font">
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Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A.
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<strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong>
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Brain 109: 523-536, 1986.
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[PubMed: 3087571]
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[Full Text: https://doi.org/10.1093/brain/109.3.523]
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Charron, P., Villard, E., Sebillon, P., Laforet, P., Maisonobe, T., Duboscq-Bidot, L., Romero, N., Drouin-Garraud, V., Frebourg, T., Richard, P., Eymard, B., Komajda, M.
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<strong>Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.</strong>
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Heart 90: 842-846, 2004.
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[PubMed: 15253947]
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[Full Text: https://doi.org/10.1136/hrt.2003.029504]
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<p class="mim-text-font">
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Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H.
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<strong>Lysosomal glycogen storage disease with normal acid maltase.</strong>
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Neurology 31: 51-57, 1981.
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[PubMed: 6450334]
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[Full Text: https://doi.org/10.1212/wnl.31.1.51]
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Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F.
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<strong>Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.</strong>
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Neuromusc. Disord. 4: 243-247, 1994.
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[PubMed: 7919972]
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[Full Text: https://doi.org/10.1016/0960-8966(94)90025-6]
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Laforet, P., Charron, P., Maisonobe, T., Romero, N. B., Villard, E., Sebillon, P., Drouin-Garraud, V., Dubourg, O., Fardeau, M., Komajda, M., Eymard, B.
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<strong>Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease.</strong>
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Neurology 63: 1535 only, 2004.
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