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Entry
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- #145600 - MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
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- OMIM
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<p>
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<span class="h4">#145600</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/145600"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS145600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MALIGNANT HYPERTHERMIA" 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=649&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/NBK1146/" 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/4424" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=145600[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=423" 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/7e732a8c-16a4-40d8-b5d3-23bc3dd34793/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 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://omia.org/OMIA000621/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:145600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</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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</span>
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</span>
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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> 213026003, 405501007<br />
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<strong>ICD10CM:</strong> T88.3<br />
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<strong>ICD9CM:</strong> 995.86<br />
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<strong>ORPHA:</strong> 423<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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145600
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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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MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
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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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MHS<br />
|
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HYPERTHERMIA OF ANESTHESIA<br />
|
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HYPERPYREXIA, MALIGNANT; MH
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/649?start=-3&limit=10&highlight=649">
|
|
19q13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Malignant hyperthermia susceptibility 1}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145600"> 145600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
RYR1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180901"> 180901 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/145600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS145600" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/145600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/145600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> 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">
|
|
|
|
- Tachycardia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86651002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86651002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3424008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3424008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3827868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3827868</a>, <a href="https://bioportal.bioontology.org/search?q=C0039231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span><br /> -
|
|
Cardiac 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypotension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45007003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45007003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/458.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020649</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002615</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002615</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
|
|
Rhabdomyolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240131006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240131006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89010004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89010004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035410</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperthermia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386661006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386661006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50177009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50177009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1197782006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1197782006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015967</a>, <a href="https://bioportal.bioontology.org/search?q=C0203597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0203597</a>, <a href="https://bioportal.bioontology.org/search?q=C5232927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232927</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
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|
|
</div>
|
|
|
|
</div>
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Mixed respiratory and metabolic acidosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840372</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005967</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Coagulopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64779008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64779008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/362970003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">362970003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D68.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">286</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005779</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001928" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001928</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003256</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
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|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Elevated serum CPK <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br /> -
|
|
Hyperkalemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238142003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238142003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14140009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14140009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166689004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166689004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5700154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5700154</a>, <a href="https://bioportal.bioontology.org/search?q=C0020461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020461</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002153</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002153</a>]</span><br /> -
|
|
Hyperphosphatemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20165001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665437</a>, <a href="https://bioportal.bioontology.org/search?q=C0085681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002905</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002905</a>]</span><br /> -
|
|
Myoglobinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48165008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48165008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027080</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002913" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002913</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002913" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002913</a>]</span><br /> -
|
|
Diagnosis by exposing muscle biopsy to caffeine and/or halothane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840366</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Heterogeneous disorder<br /> -
|
|
Precipitated by general anesthesia<br /> -
|
|
Elevated body temperatures to 42 degrees celsius<br /> -
|
|
Incidence of MH in anesthetized children is 1 in 15,000<br /> -
|
|
Incidence of MH in anesthetized adults is 1 in 50,000-100,000<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutations in the ryanodine receptor gene (RYR1, <a href="/entry/180901#0001">180901.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Malignant hyperthermia
|
|
- <a href="/phenotypicSeries/PS145600">PS145600</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1558?start=-3&limit=10&highlight=1558"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601887"> {Malignant hyperthermia susceptibility 5} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601887"> 601887 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114208"> CACNA1S </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114208"> 114208 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/517?start=-3&limit=10&highlight=517"> 3q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600467"> {Malignant hyperthermia susceptibility 4} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600467"> 600467 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600467"> MHS4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600467"> 600467 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/5?start=-3&limit=10&highlight=5"> 5p </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601888"> {Malignant hyperthermia susceptibility 6} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601888"> 601888 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601888"> MHS6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601888"> 601888 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/369?start=-3&limit=10&highlight=369"> 7q21-q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154276"> {Malignant hyperthermia susceptibility 3} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154276"> 154276 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154276"> MHS3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154276"> 154276 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to malignant hyperthermia-1 (MHS1) is caused by heterozygous mutation in the ryanodine receptor gene (RYR1; <a href="/entry/180901">180901</a>) on chromosome 19q13.</p>
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<p>Susceptibility to malignant hyperthermia (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by <a href="#47" class="mim-tip-reference" title="Monnier, N., Procaccio, V., Stieglitz, P., Lunardi, J. <strong>Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.</strong> Am. J. Hum. Genet. 60: 1316-1325, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199552</a>] [<a href="https://doi.org/10.1086/515454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199552">Monnier et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9199552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Susceptibility to Malignant Hyperthermia</em></strong></p><p>
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Other MHS loci include MHS2 (<a href="/entry/154275">154275</a>) on chromosome 17q; MHS3 (<a href="/entry/154276">154276</a>) on chromosome 7q; MHS4 (<a href="/entry/600467">600467</a>) on chromosome 3q; MHS5 (<a href="/entry/601887">601887</a>), caused by mutation in the CACNA1S gene (<a href="/entry/114208">114208</a>) on chromosome 1q32; and MHS6 (<a href="/entry/601888">601888</a>) on chromosome 5p.</p>
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<p><a href="#8" class="mim-tip-reference" title="Denborough, M. A., Forster, J. F. A., Lovell, R. R. H., Maplestone, P. A., Villiers, J. D. <strong>Anaesthetic death in a family.</strong> Brit. J. Anaesth. 34: 395-396, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13885389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13885389</a>] [<a href="https://doi.org/10.1093/bja/34.6.395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13885389">Denborough et al. (1962)</a> observed a family in which 11 of 38 persons who had general anesthesia developed explosive hyperthermia and died. The 11 included father-daughter, mother-son, and mother-daughter combinations. Denborough et al. (<a href="#6" class="mim-tip-reference" title="Denborough, M. A., Ebeling, P., King, J. O., Zapf, P. W. <strong>Myopathy and malignant hyperpyrexia.</strong> Lancet 295: 1138-1140, 1970. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4192097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4192097</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)91215-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4192097">1970</a>, <a href="#7" class="mim-tip-reference" title="Denborough, M. A., Forster, J. F. A., Hudson, M. C., Carter, N. G., Zapf, P. W. <strong>Biochemical changes in malignant hyperpyrexia.</strong> Lancet 295: 1137-1138, 1970. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4192096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4192096</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)91214-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4192096">1970</a>) found that malignant hyperpyrexia was often associated with hypertonicity of the voluntary muscles and elevation of serum creatine phosphokinase (CPK), phosphate, and potassium, indicating severe muscle damage. Severe lactic acidosis also occurred. The authors suggested that 'leaky' cell membranes were involved. High levels of CPK were found in a patient who had survived malignant pyrexia and in his father, paternal aunt, and sister. Two of the relatives showed mild myopathy affecting mainly the legs. <a href="#67" class="mim-tip-reference" title="Wilson, R. D., Dent, T. E., Traber, D. L., McCoy, N. R., Allen, C. R. <strong>Malignant hyperpyrexia with anesthesia.</strong> JAMA 202: 183-186, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6072352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6072352</a>]" pmid="6072352">Wilson et al. (1967)</a> noted that this condition is a pharmacogenetic disorder, and suggested that 'uncoupling of oxidative phosphorylation' is the defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4192096+6072352+4192097+13885389" 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 patients with malignant hyperpyrexia, <a href="#35" class="mim-tip-reference" title="King, J. O., Denborough, M. A., Zapf, P. W. <strong>Inheritance of malignant hyperpyrexia.</strong> Lancet 299: 365-370, 1972. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4109748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4109748</a>] [<a href="https://doi.org/10.1016/s0140-6736(72)92854-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4109748">King et al. (1972)</a> found elevated levels of serum CPK and clinical findings of a dominantly inherited myopathy. <a href="#35" class="mim-tip-reference" title="King, J. O., Denborough, M. A., Zapf, P. W. <strong>Inheritance of malignant hyperpyrexia.</strong> Lancet 299: 365-370, 1972. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4109748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4109748</a>] [<a href="https://doi.org/10.1016/s0140-6736(72)92854-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4109748">King et al. (1972)</a> referred to the condition as 'Evans myopathy,' which was the name of Denborough's original family which had at least 57 affected persons. <a href="#35" class="mim-tip-reference" title="King, J. O., Denborough, M. A., Zapf, P. W. <strong>Inheritance of malignant hyperpyrexia.</strong> Lancet 299: 365-370, 1972. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4109748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4109748</a>] [<a href="https://doi.org/10.1016/s0140-6736(72)92854-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4109748">King et al. (1972)</a> found hyperpyrexia in a case of the dominant form of myotonia congenita (<a href="/entry/160800">160800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4109748" 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="#30" class="mim-tip-reference" title="Isaacs, H., Barlow, M. B. <strong>Malignant hyperpyrexia occurring in a second Johannesburg family.</strong> Brit. J. Anaesth. 45: 901-904, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4753688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4753688</a>] [<a href="https://doi.org/10.1093/bja/45.8.901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4753688">Isaacs and Barlow (1973)</a> reported a 4-generation family with dominant inheritance of malignant hyperpyrexia. One of the affected members of the family had additional features, including scoliosis, ptosis, strabismus, dislocation of shoulders and patellas, pes cavus, pectus deformity, below average IQ, and elevated creatine kinase. <a href="#28" class="mim-tip-reference" title="Isaacs, H., Badenhorst, M. E. <strong>Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome.</strong> Muscle Nerve 15: 740-742, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1508238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1508238</a>] [<a href="https://doi.org/10.1002/mus.880150619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1508238">Isaacs and Badenhorst (1992)</a> noted that this patient lacked the typical facial features of King-Denborough syndrome (KDS; <a href="/entry/619542">619542</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1508238+4753688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review, <a href="#51" class="mim-tip-reference" title="Nelson, T. E., Flewellen, E. H. <strong>The malignant hyperthermia syndrome.</strong> New Eng. J. Med. 309: 416-418, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6348539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6348539</a>] [<a href="https://doi.org/10.1056/NEJM198308183090706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6348539">Nelson and Flewellen (1983)</a> stated that half the patients who develop malignant hyperthermia have had previous anesthesia without recognized malignant hyperthermia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6348539" 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="#26" class="mim-tip-reference" title="Hopkins, P. M., Ellis, F. R., Halsall, P. J. <strong>Evidence for related myopathies in exertional heat stroke and malignant hyperthermia.</strong> Lancet 338: 1491-1492, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683922</a>] [<a href="https://doi.org/10.1016/0140-6736(91)92304-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683922">Hopkins et al. (1991)</a> suggested that heat stroke is one manifestation of malignant hyperthermia. They tested 2 men in military service who had episodes of exertional heat stroke and their immediate family members for susceptibility to malignant hyperthermia by in vitro contracture tests (IVCT) on skeletal muscle samples. Muscle from both index subjects had a normal response to caffeine, but an abnormal response to halothane. Muscle from the father of 1 patient had an abnormal response to halothane, and that from the father of the second patient had an abnormal response to ryanodine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1683922" 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>Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia. Several nonanesthetic triggers of rhabdomyolysis have been described in susceptible persons: severe exercise in hot conditions, neuroleptic drugs, alcohol, and infections. <a href="#10" class="mim-tip-reference" title="Denborough, M. A., McLean, A., Morgan, G., Hopkinson, K. C. <strong>Fatal inherited rhabdomyolysis and malignant hyperthermia. (Letter)</strong> Lancet 343: 236-237, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7904690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7904690</a>] [<a href="https://doi.org/10.1016/s0140-6736(94)91022-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7904690">Denborough et al. (1994)</a> reported a patient who developed severe rhabdomyolysis after a viral infection, who was subsequently shown to be susceptible to malignant hyperthermia, and whose father and grandfather appeared to have died from rhabdomyolysis after viral infections. The father of the proband was a healthy 32-year-old man when he developed a flu-like illness in 1989. He developed evidence of rhabdomyolysis with acute renal failure requiring dialysis and severe swelling of both calves, which was intensely painful and associated with ischemic changes. Serum creatine was elevated. Despite fasciotomies of both the calves and thighs, he died 72 hours after admission to hospital. A 4-fold rise in the antibody titer to influenza B virus was demonstrated. The proband, then 13 years old, developed similar symptoms of viral illness associated with aching calves 2 days after his father's illness began. He showed markedly elevated creatine kinase but made a rapid recovery within 2 days. His creatine kinase remained persistently raised and his only sister also had a raised serum creatine kinase. The paternal grandfather of the proband, who had previously been healthy, died at the age of 33 years with renal failure after a similar flu-like illness. Although there was no family history of serious adverse response to anesthesia, in vitro muscle tests carried out on the proband at the age of 17 years showed that he was susceptible to MH. Muscle contracture occurred with both halothane and caffeine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7904690" 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="Denborough, M. A., Galloway, G. J., Hopkinson, K. C. <strong>Malignant hyperpyrexia and sudden infant death.</strong> Lancet 320: 1068-1069, 1982. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6127545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6127545</a>] [<a href="https://doi.org/10.1016/s0140-6736(82)90005-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6127545">Denborough et al. (1982)</a> found susceptibility to malignant hyperpyrexia and accompanying muscle abnormalities in 5 of 15 parents whose children had died of sudden infant death syndrome (SIDS). A 28-year-old man, whose son had died of SIDS at age 16 months, had had 3 cardiac arrests after appendectomy at age 19 and his mother had severe hyperpyrexia after hysterectomy. A 26-year-old man, whose daughter died of SIDS at age 4 months, had a sister, aged 12, with a severe myopathy affecting the legs since birth which was diagnosed as arthrogryposis multiplex. A woman, aged 27, whose son died of SIDS at age 10 weeks, had a grandfather who nearly died during anesthesia for arterial graft on his leg at age 55. <a href="#9" class="mim-tip-reference" title="Denborough, M. A., Galloway, G. J., Hopkinson, K. C. <strong>Malignant hyperpyrexia and sudden infant death.</strong> Lancet 320: 1068-1069, 1982. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6127545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6127545</a>] [<a href="https://doi.org/10.1016/s0140-6736(82)90005-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6127545">Denborough et al. (1982)</a> cited reports suggesting that many babies dying of SIDS have a high body temperature and show pathologic changes in the bowel resembling those of heat stroke. <a href="#22" class="mim-tip-reference" title="Gericke, G. S. <strong>Fragile collagen and the lethal multiple pterygium syndrome: does heat stress play a role? (Letter)</strong> Am. J. Med. Genet. 38: 630-631, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2063909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2063909</a>] [<a href="https://doi.org/10.1002/ajmg.1320380426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2063909">Gericke (1991)</a> suggested that hyperthermia and heat shock proteins may have teratogenic effects on collagen during fetal life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6127545+2063909" 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="#13" class="mim-tip-reference" title="Deufel, T., Muller-Felber, W., Pongratz, D. E., Hubner, G., Johnson, K. J., Iaizzo, P. A., Lehmann-Horn, F. <strong>Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations.</strong> Neuromusc. Disord. 2: 389-396, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1300187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1300187</a>] [<a href="https://doi.org/10.1016/s0960-8966(06)80010-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1300187">Deufel et al. (1992)</a> reported a patient with chronic myopathy beginning at age 2 years and characterized by marked muscle weakness, elevated serum creatine kinase, and a distinct enlargement and increase of muscle mitochondria on biopsy. The IVCT showed a particularly severe MHS condition. Both parents had MHS, suggesting that the child was homozygous for the disorder. The findings suggested a link between MHS and myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1300187" 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="#15" class="mim-tip-reference" title="Eng, G. D., Epstein, B. S., Engel, W. K., McKay, D. W., McKay, R. <strong>Malignant hyperthermia and central core disease in a child with congenital dislocating hips: case presentation and review.</strong> Arch. Neurol. 35: 189-197, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/637752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">637752</a>] [<a href="https://doi.org/10.1001/archneur.1978.00500280007002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="637752">Eng et al. (1978)</a> observed malignant hyperthermia in a child with autosomal dominant central core muscle disease (CCD; <a href="/entry/117000">117000</a>). <a href="#31" class="mim-tip-reference" title="Islander, G., Henriksson, K.-G., Ranklev-Twetman, E. <strong>Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed.</strong> Neuromusc. Disord. 5: 125-127, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7767091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7767091</a>] [<a href="https://doi.org/10.1016/0960-8966(94)00038-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7767091">Islander et al. (1995)</a> presented the results of IVCT on family members of a girl with CCD. Although none of the other family members had a myopathy either clinically or by biopsy, 6 relatives in antecedent generations had either positive or equivocal in vitro contracture tests in a pattern consistent with autosomal dominant transmission of MHS. <a href="#31" class="mim-tip-reference" title="Islander, G., Henriksson, K.-G., Ranklev-Twetman, E. <strong>Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed.</strong> Neuromusc. Disord. 5: 125-127, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7767091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7767091</a>] [<a href="https://doi.org/10.1016/0960-8966(94)00038-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7767091">Islander et al. (1995)</a> suggested that healthy members of families with a proband with CCD could be at risk for being susceptible to malignant hyperthermia even though they themselves do not have central core myopathy. They also suggested that CCD and susceptibility to malignant hyperthermia could be pleiotropic effects of the same gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7767091+637752" 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="Fagerlund, T. H., Islander, G., Ranklev-Twetman, E., Berg, K. <strong>Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.</strong> Clin. Genet. 50: 455-458, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9147872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9147872</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02711.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9147872">Fagerlund et al. (1996)</a> described a kindred in which a 2-year-old girl was found to have a severe form of central core disease. Although she was not studied with a diagnostic IVCT because of her young age, other members of her family were studied. MHS was diagnosed if both the test with halothane and the test with caffeine were pathologic, and malignant hyperthermia equivocal (MHE) if only one of the tests was pathologic. The proband's father and paternal grandmother were designated MHE, whereas a brother and a sister of the grandmother were labeled MHS. Surprisingly, DNA studies conducted on available family members uncovered recombination between the MHS locus and RYR1 markers, and none of 5 specific RYR1 gene mutations could be identified in the family. <a href="#17" class="mim-tip-reference" title="Fagerlund, T. H., Islander, G., Ranklev-Twetman, E., Berg, K. <strong>Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.</strong> Clin. Genet. 50: 455-458, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9147872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9147872</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02711.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9147872">Fagerlund et al. (1996)</a> concluded that because of the known heterogeneity of MHS and the possible heterogeneity of CCD, it is possible that 2 independent disorders were segregating in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9147872" 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="#64" class="mim-tip-reference" title="Tobin, J. R., Jason, D. R., Challa, V. R., Nelson, T. E., Sambuughin, N. <strong>Malignant hyperthermia and apparent heat stroke. (Letter)</strong> JAMA 286: 168-169, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11448278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11448278</a>] [<a href="https://doi.org/10.1001/jama.286.2.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11448278">Tobin et al. (2001)</a> reported the case of a 12-year-old boy who had an episode of malignant hyperthermia after general anesthesia for a fractured arm. Eight months later, the boy presented after playing in a football game with stress-induced hyperpyrexia, including diaphoresis, muscle weakness and stiffness, seizure activity, respiratory arrest, ventricular fibrillation, and acidosis. Postmortem examination was unremarkable, but a mutation in the RYR1 gene (<a href="/entry/180901#0004">180901.0004</a>) was identified. The patient's father also carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11448278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Manning, B. M., Quane, K. A., Ording, H., Urwyler, A., Tegazzin, V., Lehane, M., O'Halloran, J., Hartung, E., Giblin, L. M., Lynch, P. J., Vaughan, P., Censier, K., Bendixen, D., Comi, G., Heytens, L., Monsieurs, K., Fagerlund, T., Wolz, W., Heffron, J. J. A., Muller, C. R., McCarthy, T. V. <strong>Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 62: 599-609, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497245</a>] [<a href="https://doi.org/10.1086/301748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497245">Manning et al. (1998)</a> reported 2 families with MHS. The proband in the first family had onset of an MH crisis at the age of 12 years while undergoing ophthalmic surgery. Ten minutes after initiation of anesthesia with halothane and succinylcholine, body temperature rose to 37.4 degrees C, accompanied by myoglobinuria, masseter spasm, and ventricular arrhythmia. The maximum potassium level was 4.8 mEq/l, and his maximum creatine kinase level rose dramatically. The patient survived without sequelae, although dantrolene therapy was not given. The proband in the second family had an MH crisis with halothane and succinylcholine while undergoing orthopedic surgery for the first time at age 27 years. The maximum temperature recorded during the crisis was 39.2 degrees C. The duration of anesthesia before development of the MH crisis was 90 minutes. Other characteristics of the crisis included masseter spasm, inappropriate tachypnea, and sinus tachycardia. The maximum heart rate was measured at 150 bpm and the maximal CK level was more than 2,500 U/l. Both patients had a mutation in the RYR1 gene (<a href="/entry/180901#0010">180901.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497245" 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="#59" class="mim-tip-reference" title="Sambuughin, N., McWilliams, S., de Bantel, A., Sivakumar, K., Nelson, T. E. <strong>Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.</strong> Am. J. Hum. Genet. 69: 204-208, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11389482[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/10.1086/321270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389482">Sambuughin et al. (2001)</a> reported 2 unrelated families with MHS. The proband of 1 family developed life-threatening signs of MH when she was anesthetized for tonsillectomy at 9 years of age. Anesthesia was induced with thiopental sodium and maintained with halothane. On injection of succinylcholine to facilitate intubation of the trachea, the patient developed global skeletal muscle rigidity, and her mouth could not be opened. Two brothers had positive in vitro contracture tests, as did the patient. The proband in the second family developed signs of MH when she was anesthetized for maxillary-mandibular advancement-augmentation genioplasty at 15 years of age. Anesthesia was induced with propofol and fentanyl, and nasotracheal intubation was accomplished after topical application of lidocaine; anesthesia was maintained with isoflurane. Signs of MH developed between 1 and 2 hours after induction of anesthesia. Subsequently, the proband and her sister were found to have unequivocally MH-positive in vitro contracture responses to caffeine and to halothane. Affected members of both families had the same 3-bp deletion in the RYR1 gene (<a href="/entry/180901#0017">180901.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11389482" 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="#24" class="mim-tip-reference" title="Guis, S., Figarella-Branger, D., Monnier, N., Bendahan, D., Kozak-Ribbens, G., Mattei, J.-P., Lunardi, J., Cozzone, P. J., Pellissier, J.-F. <strong>Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.</strong> Arch. Neurol. 61: 106-113, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14732627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14732627</a>] [<a href="https://doi.org/10.1001/archneur.61.1.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14732627">Guis et al. (2004)</a> reported a large family in which 17 patients were diagnosed with MHS by IVCT. The disorder was inherited in an autosomal dominant pattern. Muscle biopsy showed an unexpected presence of multiminicores in 16 of the 17 patients (95%). Multiminicore lesions were observed in both type 1 and type 2 fiber types. No central cores were identified. Genetic analysis detected a heterozygous allele with 2 missense mutations in cis in the RYR1 gene (<a href="/entry/180901#0023">180901.0023</a>) which segregated with the disease phenotype. Only 2 of the 17 patients had clinical muscle involvement. <a href="#24" class="mim-tip-reference" title="Guis, S., Figarella-Branger, D., Monnier, N., Bendahan, D., Kozak-Ribbens, G., Mattei, J.-P., Lunardi, J., Cozzone, P. J., Pellissier, J.-F. <strong>Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.</strong> Arch. Neurol. 61: 106-113, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14732627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14732627</a>] [<a href="https://doi.org/10.1001/archneur.61.1.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14732627">Guis et al. (2004)</a> emphasized that the phenotype in this family was strikingly different from any reported phenotype, demonstrating a significant link between MHS and multiminicore myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14732627" 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="#58" class="mim-tip-reference" title="Sambuughin, N., Capacchione, J., Blokhin, A., Bayarsaikhan, M., Bina, S., Muldoon, S. <strong>The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.</strong> Clin. Genet. 76: 564-568, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19807743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19807743</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01251.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19807743">Sambuughin et al. (2009)</a> found that 3 of 6 African American men with exertional rhabdomyolysis had putative mutations in the RYR1 gene. Exertional rhabdomyolysis was defined as acute muscle necrosis with myalgias, swollen muscle, increased serum creatine kinase, and myoglobinuria after strenuous physical exercise. All 6 patients were diagnosed with MHS after the caffeine and halothane contracture test on skeletal muscle biopsy. Only 1 of the patients had a clinical episode of malignant hyperthermia during anesthesia, but he did not carry a pathogenic RYR1 mutation. The findings suggested that there may be a relationship between exertional rhabdomyolysis and MHS, and <a href="#58" class="mim-tip-reference" title="Sambuughin, N., Capacchione, J., Blokhin, A., Bayarsaikhan, M., Bina, S., Muldoon, S. <strong>The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.</strong> Clin. Genet. 76: 564-568, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19807743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19807743</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01251.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19807743">Sambuughin et al. (2009)</a> suggested that some patients with unexplained exertional rhabdomyolysis may have a mutation in the RYR1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19807743" 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="#34" class="mim-tip-reference" title="Kalow, W. <strong>Rigidity and malignant hyperthermia associated with anaesthesia.</strong> Humangenetik 9: 237-239, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4247993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4247993</a>] [<a href="https://doi.org/10.1007/BF00279231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4247993">Kalow (1970)</a> reported an extensively affected kindred exhibiting autosomal dominant inheritance of malignant hyperpyrexia and referred to 11 other instances of familial occurrence. He noted that muscular rigidity is a feature of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4247993" 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="#45" class="mim-tip-reference" title="McPherson, E. W., Taylor, C. A., Jr. <strong>The genetics of malignant hyperthermia: evidence for heterogeneity.</strong> Am. J. Med. Genet. 11: 273-285, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7081293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7081293</a>] [<a href="https://doi.org/10.1002/ajmg.1320110304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7081293">McPherson and Taylor (1982)</a> reported 12 Wisconsin families segregating MHS, some of which were extensively affected in a dominant pedigree pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7081293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Ellis, F. R., Cain, P. A., Harriman, D. G. F. <strong>Multifactorial inheritance of malignant hyperthermia susceptibility. In: Aldrete, J. A.; Britt, B. A. (eds.): Proceedings of the 2nd International Symposium on Malignant Hyperthermia, 1977.</strong> New York: Grune and Stratton (pub.) 1978. Pp. 329-338."None>Ellis et al. (1978)</a> and <a href="#51" class="mim-tip-reference" title="Nelson, T. E., Flewellen, E. H. <strong>The malignant hyperthermia syndrome.</strong> New Eng. J. Med. 309: 416-418, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6348539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6348539</a>] [<a href="https://doi.org/10.1056/NEJM198308183090706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6348539">Nelson and Flewellen (1983)</a> concluded that malignant hyperthermia exhibits multifactorial inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6348539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Denborough, M. A. <strong>Personal Communication.</strong> Canberra, Australia 3/28/1977."None>Denborough (1977)</a> developed an in vitro contracture test (IVCT) for malignant hyperpyrexia using a small segment of skeletal muscle from patients. Caffeine, halothane, succinylcholine, and increased potassium induced exaggerated contractions. A dilantin-like drug inhibited the halothane response and the basal twitch in vitro, and presumably could have prophylactic value in vivo. <a href="#11" class="mim-tip-reference" title="Denborough, M. A. <strong>Personal Communication.</strong> Canberra, Australia 3/28/1977."None>Denborough (1977)</a> noted that high CPK and muscle wasting were useful in identifying subclinical affected persons.</p><p><a href="#3" class="mim-tip-reference" title="Ball, S. P., Johnson, K. J. <strong>The genetics of malignant hyperthermia.</strong> J. Med. Genet. 30: 89-93, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8383206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8383206</a>] [<a href="https://doi.org/10.1136/jmg.30.2.89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8383206">Ball and Johnson (1993)</a> suggested that only about 50% of families with malignant hyperthermia have a mutation of the skeletal muscle RYR1 gene on 19q13.1-q13.2. Thus, presymptomatic testing based on DNA markers can be offered only to a limited number of families where linkage to markers from that region has clearly been shown. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8383206" 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="Hogan, K. <strong>To fire the train: a second malignant-hyperthermia gene. (Editorial)</strong> Am. J. Hum. Genet. 60: 1303-1308, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199549</a>] [<a href="https://doi.org/10.1086/515483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199549">Hogan (1997)</a> pointed out that normothermia does not rule out the diagnosis of malignant hyperthermia. Hyperthermia may be a late sign, as in the proband described by <a href="#47" class="mim-tip-reference" title="Monnier, N., Procaccio, V., Stieglitz, P., Lunardi, J. <strong>Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.</strong> Am. J. Hum. Genet. 60: 1316-1325, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199552</a>] [<a href="https://doi.org/10.1086/515454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199552">Monnier et al. (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9199549+9199552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Anetseder, M., Hager, M., Muller, C. R., Roewer, N. <strong>Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test.</strong> Lancet 359: 1579-1580, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12047971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12047971</a>] [<a href="https://doi.org/10.1016/S0140-6736(02)08506-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12047971">Anetseder et al. (2002)</a> proposed a minimally invasive test for susceptibility to malignant hyperthermia as a substitute for the contracture test, which requires an open muscle biopsy sample. They postulated that intramuscular injection of caffeine increases local carbon dioxide pressure in individuals susceptible to hyperthermia but not in those who are nonsusceptible or in healthy individuals. They measured carbon dioxide pressure in the rectus femoris muscle during local stimulation with caffeine injections in 12 patients susceptible to malignant hyperthermia, in 8 nonsusceptible individuals, and in 7 healthy controls. A clean separation was observed in carbon dioxide pressure values between susceptible and nonsusceptible individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12047971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Monnier, N., Kozak-Ribbens, G., Krivosic-Horber, R., Nivoche, Y., Qi, D., Kraev, N., Loke, J., Sharma, P., Tegazzin, V., Figarella-Branger, D., Romero, N., Mezin, P., Bendahan, D., Payen, J.-F., Depret, T., Maclennan, D. H., Lunardi, J. <strong>Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.</strong> Hum. Mutat. 26: 413-425, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16163667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16163667</a>] [<a href="https://doi.org/10.1002/humu.20231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16163667">Monnier et al. (2005)</a> reported the results of correlation studies performed with molecular, pharmacologic, histologic, and functional data obtained from 129 IVCT-confirmed MHS families and 46 potential MHS families. Extensive molecular analysis identified a variant in 60% of the MHS families with positive IVCT tests. Using functional analysis, <a href="#46" class="mim-tip-reference" title="Monnier, N., Kozak-Ribbens, G., Krivosic-Horber, R., Nivoche, Y., Qi, D., Kraev, N., Loke, J., Sharma, P., Tegazzin, V., Figarella-Branger, D., Romero, N., Mezin, P., Bendahan, D., Payen, J.-F., Depret, T., Maclennan, D. H., Lunardi, J. <strong>Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.</strong> Hum. Mutat. 26: 413-425, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16163667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16163667</a>] [<a href="https://doi.org/10.1002/humu.20231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16163667">Monnier et al. (2005)</a> assigned a causative role for 7 RYR1 mutations that they proposed to add to the panel of MHS mutations used for genetic testing. IVCT testing in 196 genetically-confirmed MHS patients resulted in 99.5% sensitivity. IVCT-positive/mutation-negative diagnoses were established in 3.1% of 160 tested patients who did not carry the family mutation, although the authors suggested the possibility of a second MHS trait in such families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16163667" 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="#51" class="mim-tip-reference" title="Nelson, T. E., Flewellen, E. H. <strong>The malignant hyperthermia syndrome.</strong> New Eng. J. Med. 309: 416-418, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6348539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6348539</a>] [<a href="https://doi.org/10.1056/NEJM198308183090706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6348539">Nelson and Flewellen (1983)</a> noted that dantrolene sodium is the primary specific therapeutic agent for malignant hyperthermia. 'Dantrium' can be given intravenously. Oral administration of dantrolene has been approved by the FDA for prophylactic oral administration before surgery. Dantrolene is used for chronic spasticity and its effectiveness in malignant hyperthermia appears to be related to its action on skeletal muscle where it associates the excitation-contraction coupling, probably by interfering with the release of Ca(2+) from the sarcoplasmic reticulum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6348539" 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="#60" class="mim-tip-reference" title="Schmitt, J., Schmidt, K., Ritter, H. <strong>Hereditary malignant hyperpyrexia associated with muscle adenylate kinase deficiency.</strong> Humangenetik 24: 253-357, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4374418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4374418</a>] [<a href="https://doi.org/10.1007/BF00283595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4374418">Schmitt et al. (1974)</a> reported a family in which 2 children had died from malignant hyperpyrexia. Skeletal muscle biopsy from the father and brother of the propositi showed a decrease of muscle adenylate kinase (AK2; <a href="/entry/103020">103020</a>). <a href="#60" class="mim-tip-reference" title="Schmitt, J., Schmidt, K., Ritter, H. <strong>Hereditary malignant hyperpyrexia associated with muscle adenylate kinase deficiency.</strong> Humangenetik 24: 253-357, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4374418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4374418</a>] [<a href="https://doi.org/10.1007/BF00283595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4374418">Schmitt et al. (1974)</a> suggested that malignant hyperpyrexia may develop in patients with decreased AK2 due to an inability to regenerate ATP. In 3 survivors of malignant hyperthermia and in 5 relatives of survivors who showed a positive caffeine contracture test, <a href="#5" class="mim-tip-reference" title="Cerri, C. G., Willner, J. H., Britt, B. A., Wood, D. S. <strong>Adenylate kinase deficiency and malignant hyperthermia.</strong> Hum. Genet. 57: 325-326, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6265342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6265342</a>] [<a href="https://doi.org/10.1007/BF00278955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6265342">Cerri et al. (1981)</a> found no deficiency of muscle adenylate cyclase. In contrast, <a href="#65" class="mim-tip-reference" title="Willner, J. H., Cerri, C. G., Wood, D. S. <strong>High skeletal muscle adenylate cyclase in malignant hyperthermia.</strong> J. Clin. Invest. 68: 1119-1124, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6271806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6271806</a>] [<a href="https://doi.org/10.1172/jci110355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6271806">Willner et al. (1981)</a> found that the activity of adenylate cyclase and the content of cyclic AMP was abnormally high in skeletal muscle of patients with malignant hyperthermia. They suggested that secondary modification of protein phosphorylation could explain observed abnormalities of phosphorylase activation and sarcoplasmic reticulum function in the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6271806+4374418+6265342" 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>Noting that MHS in the pig (see ANIMAL MODEL) is linked to glucose phosphate isomerase (GPI; <a href="/entry/172400">172400</a>) which belongs to a linkage group conserved in vertebrates, McCarthy et al. (<a href="#43" class="mim-tip-reference" title="McCarthy, T., Healy, S., Lehane, M., Heffron, J., Farrall, M., Johnson, K. <strong>Localisation of the malignant hyperthermia susceptibility locus to 19q12-13.2. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A150 only, 1989."None>1989</a>, <a href="#44" class="mim-tip-reference" title="McCarthy, T. V., Healy, J. M. S., Heffron, J. J. A., Lehane, M., Deufel, T., Lehmann-Horn, F., Farrall, M., Johnson, K. <strong>Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.</strong> Nature 343: 562-564, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300206</a>] [<a href="https://doi.org/10.1038/343562a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300206">1990</a>) investigated human chromosome 19, which carries the GPI gene, in several families with MHS. They found that MHS is tightly linked to CYP2A (<a href="/entry/122720">122720</a>) (maximum lod of 5.65 at theta = 0) and is flanked by APOC2 (<a href="/entry/608083">608083</a>) and DNA marker S9. The authors concluded that both human and porcine MHS are due to mutations in homologous genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="MacLennan, D. H., Duff, C., Zorzato, F., Fujii, J., Phillips, M., Korneluk, R. G., Frodis, W., Britt, A., Worton, R. G. <strong>Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.</strong> Nature 343: 559-561, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1967823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1967823</a>] [<a href="https://doi.org/10.1038/343559a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1967823">MacLennan et al. (1990)</a> reported linkage of several MHS families to chromosome 19 markers, including markers within the RYR1 gene (lod score of 4.20) at a linkage distance of 0.0 cM. The authors concluded that the basic defect in MHS resides in the RYR1 gene. Noting that the RYR1 gene maps to chromosome 19q, which is syntenic to the candidate gene for malignant hyperthermia on porcine chromosome 6, <a href="#39" class="mim-tip-reference" title="MacKenzie, A. E., Korneluk, R. G., Zorzato, F., Fujii, J., Phillips, M., Iles, D., Wieringa, B., Leblond, S., Bailly, J., Willard, H. F., Duff, C., Worton, R. G., MacLennan, D. H. <strong>The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.</strong> Am. J. Hum. Genet. 46: 1082-1089, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971150</a>]" pmid="1971150">MacKenzie et al. (1990)</a> also suggested that the RYR1 gene may be the cause of human MHS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1971150+1967823" 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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In 3 unrelated families with MHS, <a href="#37" class="mim-tip-reference" title="Levitt, R. C., Nouri, N., Jedlicka, A. E., McKusick, V. A., Marks, A. R., Shutack, J. G., Fletcher, J. E., Rosenberg, H., Meyers, D. A. <strong>Evidence for genetic heterogeneity in malignant hyperthermia susceptibility.</strong> Genomics 11: 543-547, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1774061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1774061</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90061-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1774061">Levitt et al. (1991)</a> excluded linkage of the MHS phenotype to loci on 19q13.1, indicating genetic heterogeneity. <a href="#18" class="mim-tip-reference" title="Fagerlund, T., Islander, G., Ranklev, E., Harbitz, I., Hauge, J. G., Mokleby, E., Berg, K. <strong>Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle.</strong> Clin. Genet. 41: 270-272, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1318804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1318804</a>]" pmid="1318804">Fagerlund et al. (1992)</a> studied 8 Swedish MH families with respect to a BanI RFLP of the RYR1 gene (called by them CRC for calcium release channel of the sarcoplasmic reticulum). Three of the families were informative for genetic linkage and 2 of them showed recombinants, indicating that the mutation in those families was not in the RYR1 gene. <a href="#12" class="mim-tip-reference" title="Deufel, T., Golla, A., Iles, D., Meindl, A., Meitinger, T., Schindelhauer, D., DeVries, A., Pongratz, D., MacLennan, D. H., Johnson, K. J., Lehmann-Horn, F. <strong>Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.</strong> Am. J. Hum. Genet. 50: 1151-1161, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598899</a>]" pmid="1598899">Deufel et al. (1992)</a> and <a href="#27" class="mim-tip-reference" title="Iles, D. E., Segers, B., Heytens, L., Sengers, R. C. A., Wieringa, B. <strong>High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families.</strong> Genomics 14: 749-754, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1427902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1427902</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80179-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1427902">Iles et al. (1992)</a> excluded close linkage to RYR1 in 2 Bavarian MHS families with MHS and in 2 additional MHS families, respectively. The work of <a href="#38" class="mim-tip-reference" title="Levitt, R. C., Olckers, A., Meyers, S., Levitt, M. K., Rosenberg, H., Fletcher, J. E., Isaacs, H., Meyers, D. A. <strong>Evidence for the localization of a malignant hyperthermia susceptibility locus to human chromosome 17q. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A46 only, 1992."None>Levitt et al. (1992)</a> suggested that at least 3 separate loci are responsible for susceptibility to malignant hyperthermia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1774061+1598899+1318804+1427902" 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>Because in some pedigrees phenotypic and genotypic data are discordant, <a href="#57" class="mim-tip-reference" title="Robinson, R. L., Curran, J. L., Ellis, F. R., Halsall, P. J., Hall, W. J., Hopkins, P. M., Iles, D. E., West, S. P., Shaw, M.-A. <strong>Multiple interacting gene products may influence susceptibility to malignant hyperthermia.</strong> Ann. Hum. Genet. 64: 307-320, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11415515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11415515</a>] [<a href="https://doi.org/10.1017/S0003480000008186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11415515">Robinson et al. (2000)</a> suggested that susceptibility to malignant hyperthermia is dependent upon the effects of more than one gene. Using the transmission disequilibrium test in a study of 130 MH nuclear families, they assessed the involvement of 8 malignant hyperthermia candidate loci: RYR1, CACNA1S (<a href="/entry/114208">114208</a>), CACNA2D1 (<a href="/entry/114204">114204</a>), MHS4 (<a href="/entry/600467">600467</a>), MHS6 (<a href="/entry/601888">601888</a>), LIPE (<a href="/entry/151750">151750</a>), DM1 (<a href="/entry/160900">160900</a>), and dystrophin (<a href="/entry/300377">300377</a>). The authors concluded that the results pointed to variation in more than one gene as influencing MH susceptibility in individual families. Using family stratification data, <a href="#56" class="mim-tip-reference" title="Robinson, R., Hopkins, P., Carsana, A., Gilly, H., Halsall, J., Heytens, L., Islander, G., Jurkat-Rott, K., Muller, C., Shaw, M.-A. <strong>Several interacting genes influence the malignant hyperthermia phenotype.</strong> Hum. Genet. 112: 217-218, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522565</a>] [<a href="https://doi.org/10.1007/s00439-002-0864-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522565">Robinson et al. (2003)</a> confirmed a role in MH susceptibility for loci on chromosomes 5 and 7 in RYR1-linked families, with the influence of chromosomes 1 and 3 being less clear. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11415515+12522565" 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 several porcine breeds that exhibited inheritance of malignant hyperthermia, <a href="#55" class="mim-tip-reference" title="Otsu, K., Khanna, V. K., Archibald, A. L., MacLennan, D. H. <strong>Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families.</strong> Genomics 11: 744-750, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1774073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1774073</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90083-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1774073">Otsu et al. (1991)</a> and <a href="#20" class="mim-tip-reference" title="Fujii, J., Otsu, K., Zorzato, F., de Leon, S., Khanna, V. K., Weiler, J. E., O'Brien, P. J., MacLennan, D. H. <strong>Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.</strong> Science 253: 448-451, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1862346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1862346</a>] [<a href="https://doi.org/10.1126/science.1862346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1862346">Fujii et al. (1991)</a> identified an A615R mutation in the Ryr1 gene. In 1 of 35 Canadian families with malignant hyperthermia, <a href="#23" class="mim-tip-reference" title="Gillard, E. F., Otsu, K., Fujii, J., Khanna, V. K., de Leon, S., Derdemezi, J., Britt, B. A., Duff, C. L., Worton, R. G., MacLennan, D. H. <strong>A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.</strong> Genomics 11: 751-755, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1774074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1774074</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90084-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1774074">Gillard et al. (1991)</a> identified heterozygosity for the same mutation, which is A614R (<a href="/entry/180901#0001">180901.0001</a>) in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1774073+1774074+1862346" 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 patients with malignant hyperthermia, <a href="#42" class="mim-tip-reference" title="Manning, B. M., Quane, K. A., Ording, H., Urwyler, A., Tegazzin, V., Lehane, M., O'Halloran, J., Hartung, E., Giblin, L. M., Lynch, P. J., Vaughan, P., Censier, K., Bendixen, D., Comi, G., Heytens, L., Monsieurs, K., Fagerlund, T., Wolz, W., Heffron, J. J. A., Muller, C. R., McCarthy, T. V. <strong>Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 62: 599-609, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497245</a>] [<a href="https://doi.org/10.1086/301748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497245">Manning et al. (1998)</a> identified 4 adjacent mutations in the RYR1 gene: R2163C (<a href="/entry/180901#0010">180901.0010</a>), R2163H (<a href="/entry/180901#0011">180901.0011</a>), V2168M (<a href="/entry/180901#0013">180901.0013</a>), and T2206M (<a href="/entry/180901#0014">180901.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Monnier, N., Kozak-Ribbens, G., Krivosic-Horber, R., Nivoche, Y., Qi, D., Kraev, N., Loke, J., Sharma, P., Tegazzin, V., Figarella-Branger, D., Romero, N., Mezin, P., Bendahan, D., Payen, J.-F., Depret, T., Maclennan, D. H., Lunardi, J. <strong>Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.</strong> Hum. Mutat. 26: 413-425, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16163667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16163667</a>] [<a href="https://doi.org/10.1002/humu.20231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16163667">Monnier et al. (2005)</a> identified 11 new variants in the RYR1 gene in affected members of families with MHS1. Most mutations clustered in the MH1 and MH2 domains of the RYR1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16163667" 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="#32" class="mim-tip-reference" title="Johnston, J. J., Dirksen, R. T., Girard, T., Gonsalves, S. G., Hopkins, P. M., Riazi, S., Saddic, L. A., Sambuughin, N., Saxena, R., Stowell, K., Weber, J., Rosenberg, H., Biesecker, L. G. <strong>Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.</strong> Genet. Med. 23: 1288-1295, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33767344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33767344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33767344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01125-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33767344">Johnston et al. (2021)</a> reported an adaptation of the American College of Medical Genetics/Association for Molecular Pathology (ACMG/AMP) pathogenicity criteria by a variant curation expert panel for the classification of RYR1 variants in malignant hyperthermia susceptibility. Using the new criteria, 44 RYR1 gene mutations previously determined to be diagnostic by the European Malignant Hyperthermia Group (EMHG) were categorized: 29 were classified as pathogenic, 13 as likely pathogenic, and 2 as variants of unknown significance. <a href="#32" class="mim-tip-reference" title="Johnston, J. J., Dirksen, R. T., Girard, T., Gonsalves, S. G., Hopkins, P. M., Riazi, S., Saddic, L. A., Sambuughin, N., Saxena, R., Stowell, K., Weber, J., Rosenberg, H., Biesecker, L. G. <strong>Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.</strong> Genet. Med. 23: 1288-1295, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33767344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33767344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33767344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01125-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33767344">Johnston et al. (2021)</a> concluded that use of the new criteria should allow for more consistent classification of RYR1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33767344" 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="#51" class="mim-tip-reference" title="Nelson, T. E., Flewellen, E. H. <strong>The malignant hyperthermia syndrome.</strong> New Eng. J. Med. 309: 416-418, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6348539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6348539</a>] [<a href="https://doi.org/10.1056/NEJM198308183090706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6348539">Nelson and Flewellen (1983)</a> cited a frequency of malignant hyperthermia of 1 in 15,000 anesthetic administrations to children and 1 in 50,000 to 100,000 in adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6348539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The international incidence of malignant hyperthermia was stated by <a href="#25" class="mim-tip-reference" title="Hogan, K. <strong>To fire the train: a second malignant-hyperthermia gene. (Editorial)</strong> Am. J. Hum. Genet. 60: 1303-1308, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199549</a>] [<a href="https://doi.org/10.1086/515483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199549">Hogan (1997)</a> to be 1 in 50,000 anesthetics. Children are at special risk, with approximately 1 in 5,000 to 10,000 pediatric anesthetics using trigger drugs complicated by malignant hyperthermia. A higher incidence is encountered in geographically defined populations, such as residents of north-central Wisconsin, aboriginal inhabitants of North Carolina, valley dwellers in parts of Austria, and descendants of settlers in Quebec. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9199549" 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="#53" class="mim-tip-reference" title="Ohnishi, S. T., Ohnishi, T. <strong>Malignant Hyperthermia: A Genetic Membrane Disease.</strong> London: CRC Press (pub.) 1994."None>Ohnishi and Ohnishi (1994)</a> edited a comprehensive multiauthored treatise on malignant hyperthermia. The history of the Malignant Hyperthermia Association of the United States and the British Malignant Hyperthermia Association was recounted in separate chapters.</p>
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<p>The malignant hyperthermia that occurs on the basis of a genetic defect in Landrace pigs is not only clinically identical with the human syndrome, but also identical in many of the biochemical features (<a href="#4" class="mim-tip-reference" title="Britt, B. A., Kalow, W. <strong>Malignant hyperthermia: aetiology unknown.</strong> Canad. Anaesth. Soc. J. 17: 316-330, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4317096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4317096</a>] [<a href="https://doi.org/10.1007/BF03004695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4317096">Britt and Kalow, 1970</a>). <a href="#61" class="mim-tip-reference" title="Smith, C., Bampton, P. R. <strong>Inheritance of reaction to halothane anaesthesia in pigs.</strong> Genet. Res. 29: 287-292, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/892446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">892446</a>] [<a href="https://doi.org/10.1017/s0016672300017365" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="892446">Smith and Bampton (1977)</a> concluded that the malignant hyperthermia syndrome is autosomal recessive in pigs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4317096+892446" 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="Foster, P. S., Gesini, E., Claudianos, C., Hopkinson, K. C., Denborough, M. A. <strong>Inositol 1,4,5-trisphosphate phosphatase deficiency and malignant hyperpyrexia in swine.</strong> Lancet 334: 124-127, 1989. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567894</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)90182-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2567894">Foster et al. (1989)</a> showed that the sarcoplasmic reticulum from muscle of swine with susceptibility to malignant hyperpyrexia was deficient in inositol 1,4,5-trisphosphate phosphatase, which leads to high intracellular concentrations of inositol 1,4,5-trisphosphate phosphatase and calcium ions. Halothane inhibited the enzyme and further increased myoplasmic inositol 1,4,5-trisphosphate and calcium ion concentrations, which produced the clinical features of malignant hyperpyrexia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567894" 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="#Aldrete1971" class="mim-tip-reference" title="Aldrete, J. A., Padfield, A., Solomon, C. C., Rubright, M. W. <strong>Possible predictive tests for malignant hyperthermia during anesthesia.</strong> JAMA 215: 1465-1469, 1971.">Aldrete et al. (1971)</a>; <a href="#European1984">European Malignant Hyperpyrexia Group (1984)</a>; <a href="#Gallant1983" class="mim-tip-reference" title="Gallant, E. M., Ahern, C. P. <strong>Malignant hyperthermia: response of skeletal muscles to general anesthetics.</strong> Mayo Clin. Proc. 58: 758-763, 1983.">Gallant and Ahern (1983)</a>; <a href="#Isaacs1970" class="mim-tip-reference" title="Isaacs, H., Barlow, M. B. <strong>The genetic background to malignant hyperpyrexia revealed by serum creatine phosphokinase estimations in asymptomatic relatives.</strong> Brit. J. Anaesth. 42: 1077-1084, 1970.">Isaacs and Barlow (1970)</a>; <a href="#Kalow1970" class="mim-tip-reference" title="Kalow, W. <strong>Rigidity and malignant hyperthermia associated with anaesthesia.</strong> Humangenetik 9: 237-239, 1970.">Kalow et al.
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(1970)</a>; <a href="#King1973" class="mim-tip-reference" title="King, J. O., Denborough, M. A. <strong>Anesthetic-induced malignant hyperthermia in children.</strong> J. Pediat. 83: 37-40, 1973.">King and Denborough (1973)</a>; <a href="#MacLennan1992" class="mim-tip-reference" title="MacLennan, D. H., Phillips, M. S. <strong>Malignant hyperthermia.</strong> Science 256: 789-794, 1992.">MacLennan and Phillips (1992)</a>; <a href="#Moulds1974" class="mim-tip-reference" title="Moulds, R. F. W., Denborough, M. A. <strong>Biochemical basis of malignant hyperpyrexia.</strong> Brit. Med. J. 2: 241-244, 1974.">Moulds et al. (1974)</a>; <a href="#Moulds1974" class="mim-tip-reference" title="Moulds, R. F. W., Denborough, M. A. <strong>Biochemical basis of malignant hyperpyrexia.</strong> Brit. Med. J. 2: 241-244, 1974.">Moulds and Denborough (1974)</a>; <a href="#Nelson1977" class="mim-tip-reference" title="Nelson, T. E., Austin, K. L., Denborough, M. A. <strong>Screening for malignant hyperpyrexia.</strong> Brit. J. Anaesth. 49: 169-172, 1977.">Nelson et al.
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(1977)</a>; <a href="#Nelson1974" class="mim-tip-reference" title="Nelson, T. E., Jones, E. W., Henrickson, R. L., Falk, S. M., Kerr, D. D. <strong>Porcine malignant hyperthermia: observations on the occurrence of pale, soft, exudative musculature among susceptible pigs.</strong> Am. J. Vet. Res. 35: 347-350, 1974.">Nelson et al. (1974)</a>; <a href="#Ording1984" class="mim-tip-reference" title="Ording, H., Ranklev, E., Fletcher, R. <strong>Investigation of malignant hyperthermia in Denmark and Sweden.</strong> Brit. J. Anaesth. 56: 1183-1190, 1984.">Ording et al. (1984)</a>; <a href="#Stephen1967" class="mim-tip-reference" title="Stephen, C. R. <strong>Fulminant hyperthermia during anesthesia and surgery.</strong> JAMA 202: 178-182, 1967.">Stephen (1967)</a>; <a href="#Stephen1977" class="mim-tip-reference" title="Stephen, C. R. <strong>Malignant hyperpyrexia.</strong> Annu. Rev. Med. 28: 153-157, 1977.">Stephen (1977)</a>; <a href="#Willner1980" class="mim-tip-reference" title="Willner, J. H., Wood, D. S., Cerri, C., Britt, B. <strong>Increased myophosphorylase A in malignant hyperthermia.</strong> New Eng. J. Med. 303: 138-140, 1980.">Willner et al. (1980)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1007/BF03004695" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00278955" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(70)91215-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/bja/34.6.395" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(82)90005-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1978.00500280007002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/bja/56.11.1267" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02711.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(89)90182-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.1862346" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320380426" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90084-r" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.61.1.106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/515483" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0140-6736(91)92304-k" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0888-7543(05)80179-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880150619" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/bja/42.12.1077" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/bja/45.8.901" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0960-8966(94)00038-b" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(70)92069-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00279231" target="_blank">Full Text</a>]
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<strong>Porcine malignant hyperthermia: observations on the occurrence of pale, soft, exudative musculature among susceptible pigs.</strong>
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[<a href="https://doi.org/10.1093/bja/56.11.1183" target="_blank">Full Text</a>]
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<strong>Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families.</strong>
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[<a href="https://doi.org/10.1016/0888-7543(91)90083-q" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-002-0864-6" target="_blank">Full Text</a>]
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Robinson, R. L., Curran, J. L., Ellis, F. R., Halsall, P. J., Hall, W. J., Hopkins, P. M., Iles, D. E., West, S. P., Shaw, M.-A.
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[<a href="https://doi.org/10.1017/S0003480000008186" target="_blank">Full Text</a>]
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<strong>The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19807743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19807743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19807743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01251.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11389482[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=11389482" 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/10.1086/321270" target="_blank">Full Text</a>]
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<a id="Schmitt1974" class="mim-anchor"></a>
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<strong>Hereditary malignant hyperpyrexia associated with muscle adenylate kinase deficiency.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4374418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4374418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4374418" 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/BF00283595" target="_blank">Full Text</a>]
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<strong>Inheritance of reaction to halothane anaesthesia in pigs.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/892446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">892446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=892446" 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/10.1017/s0016672300017365" target="_blank">Full Text</a>]
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<a id="Stephen1967" class="mim-anchor"></a>
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Stephen, C. R.
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<strong>Fulminant hyperthermia during anesthesia and surgery.</strong>
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JAMA 202: 178-182, 1967.
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<a id="Stephen1977" class="mim-anchor"></a>
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Stephen, C. R.
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<strong>Malignant hyperpyrexia.</strong>
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[<a href="https://doi.org/10.1146/annurev.me.28.020177.001101" target="_blank">Full Text</a>]
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Tobin, J. R., Jason, D. R., Challa, V. R., Nelson, T. E., Sambuughin, N.
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<strong>Malignant hyperthermia and apparent heat stroke. (Letter)</strong>
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[<a href="https://doi.org/10.1001/jama.286.2.168" target="_blank">Full Text</a>]
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<strong>High skeletal muscle adenylate cyclase in malignant hyperthermia.</strong>
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[<a href="https://doi.org/10.1172/jci110355" target="_blank">Full Text</a>]
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Willner, J. H., Wood, D. S., Cerri, C., Britt, B.
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<strong>Increased myophosphorylase A in malignant hyperthermia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7383071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7383071</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7383071" 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/10.1056/NEJM198007173030306" target="_blank">Full Text</a>]
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Wilson, R. D., Dent, T. E., Traber, D. L., McCoy, N. R., Allen, C. R.
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<strong>Malignant hyperpyrexia with anesthesia.</strong>
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JAMA 202: 183-186, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6072352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6072352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6072352" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 08/27/2021
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<div class="row collapse" id="mimCollapseContributors">
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Cassandra L. Kniffin - updated : 6/5/2013<br>Cassandra L. Kniffin - updated : 12/23/2010<br>Victor A. McKusick - updated : 11/22/2005<br>Cassandra L. Kniffin - reorganized : 6/3/2004<br>Cassandra L. Kniffin - updated : 6/1/2004<br>Victor A. McKusick - updated : 1/23/2003<br>Victor A. McKusick - updated : 6/26/2002<br>Victor A. McKusick - updated : 1/5/2001<br>Victor A. McKusick - updated : 7/28/1998<br>Victor A. McKusick - updated : 6/17/1997<br>Orest Hurko - updated : 9/27/1995
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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ckniffin : 03/05/2023
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alopez : 02/23/2022<br>carol : 09/27/2021<br>carol : 08/30/2021<br>carol : 08/27/2021<br>carol : 04/19/2021<br>carol : 03/02/2017<br>carol : 02/28/2017<br>carol : 10/17/2016<br>carol : 07/03/2013<br>tpirozzi : 7/3/2013<br>ckniffin : 6/5/2013<br>carol : 6/20/2012<br>ckniffin : 6/20/2012<br>carol : 4/24/2012<br>terry : 4/24/2012<br>carol : 4/24/2012<br>wwang : 1/10/2011<br>ckniffin : 12/23/2010<br>terry : 6/3/2009<br>terry : 1/27/2009<br>terry : 1/27/2009<br>terry : 1/27/2009<br>terry : 1/27/2009<br>carol : 1/4/2006<br>ckniffin : 1/3/2006<br>carol : 1/3/2006<br>wwang : 12/8/2005<br>wwang : 12/1/2005<br>terry : 11/22/2005<br>carol : 6/3/2004<br>ckniffin : 6/1/2004<br>ckniffin : 9/24/2003<br>mgross : 8/20/2003<br>tkritzer : 1/28/2003<br>terry : 1/23/2003<br>cwells : 7/9/2002<br>terry : 6/26/2002<br>alopez : 3/13/2002<br>mcapotos : 1/17/2001<br>mcapotos : 1/11/2001<br>terry : 1/5/2001<br>carol : 7/29/1998<br>terry : 7/28/1998<br>mark : 10/27/1997<br>terry : 6/23/1997<br>terry : 6/17/1997<br>terry : 6/3/1995<br>mark : 5/18/1995<br>mimadm : 9/24/1994<br>carol : 5/31/1994<br>warfield : 4/12/1994
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<span class="mim-font">
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<strong>#</strong> 145600
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MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
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<em>Alternative titles; symbols</em>
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MHS<br />
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HYPERTHERMIA OF ANESTHESIA<br />
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HYPERPYREXIA, MALIGNANT; MH
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<strong>SNOMEDCT:</strong> 213026003, 405501007;
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<strong>ICD10CM:</strong> T88.3;
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<strong>ICD9CM:</strong> 995.86;
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<strong>ORPHA:</strong> 423;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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19q13.2
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<span class="mim-font">
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{Malignant hyperthermia susceptibility 1}
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145600
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Autosomal dominant
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3
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RYR1
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180901
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to malignant hyperthermia-1 (MHS1) is caused by heterozygous mutation in the ryanodine receptor gene (RYR1; 180901) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>Susceptibility to malignant hyperthermia (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). </p><p><strong><em>Genetic Heterogeneity of Susceptibility to Malignant Hyperthermia</em></strong></p><p>
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Other MHS loci include MHS2 (154275) on chromosome 17q; MHS3 (154276) on chromosome 7q; MHS4 (600467) on chromosome 3q; MHS5 (601887), caused by mutation in the CACNA1S gene (114208) on chromosome 1q32; and MHS6 (601888) on chromosome 5p.</p>
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<strong>Clinical Features</strong>
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<p>Denborough et al. (1962) observed a family in which 11 of 38 persons who had general anesthesia developed explosive hyperthermia and died. The 11 included father-daughter, mother-son, and mother-daughter combinations. Denborough et al. (1970, 1970) found that malignant hyperpyrexia was often associated with hypertonicity of the voluntary muscles and elevation of serum creatine phosphokinase (CPK), phosphate, and potassium, indicating severe muscle damage. Severe lactic acidosis also occurred. The authors suggested that 'leaky' cell membranes were involved. High levels of CPK were found in a patient who had survived malignant pyrexia and in his father, paternal aunt, and sister. Two of the relatives showed mild myopathy affecting mainly the legs. Wilson et al. (1967) noted that this condition is a pharmacogenetic disorder, and suggested that 'uncoupling of oxidative phosphorylation' is the defect. </p><p>In patients with malignant hyperpyrexia, King et al. (1972) found elevated levels of serum CPK and clinical findings of a dominantly inherited myopathy. King et al. (1972) referred to the condition as 'Evans myopathy,' which was the name of Denborough's original family which had at least 57 affected persons. King et al. (1972) found hyperpyrexia in a case of the dominant form of myotonia congenita (160800). </p><p>Isaacs and Barlow (1973) reported a 4-generation family with dominant inheritance of malignant hyperpyrexia. One of the affected members of the family had additional features, including scoliosis, ptosis, strabismus, dislocation of shoulders and patellas, pes cavus, pectus deformity, below average IQ, and elevated creatine kinase. Isaacs and Badenhorst (1992) noted that this patient lacked the typical facial features of King-Denborough syndrome (KDS; 619542). </p><p>In a review, Nelson and Flewellen (1983) stated that half the patients who develop malignant hyperthermia have had previous anesthesia without recognized malignant hyperthermia. </p><p>Hopkins et al. (1991) suggested that heat stroke is one manifestation of malignant hyperthermia. They tested 2 men in military service who had episodes of exertional heat stroke and their immediate family members for susceptibility to malignant hyperthermia by in vitro contracture tests (IVCT) on skeletal muscle samples. Muscle from both index subjects had a normal response to caffeine, but an abnormal response to halothane. Muscle from the father of 1 patient had an abnormal response to halothane, and that from the father of the second patient had an abnormal response to ryanodine. </p><p>Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia. Several nonanesthetic triggers of rhabdomyolysis have been described in susceptible persons: severe exercise in hot conditions, neuroleptic drugs, alcohol, and infections. Denborough et al. (1994) reported a patient who developed severe rhabdomyolysis after a viral infection, who was subsequently shown to be susceptible to malignant hyperthermia, and whose father and grandfather appeared to have died from rhabdomyolysis after viral infections. The father of the proband was a healthy 32-year-old man when he developed a flu-like illness in 1989. He developed evidence of rhabdomyolysis with acute renal failure requiring dialysis and severe swelling of both calves, which was intensely painful and associated with ischemic changes. Serum creatine was elevated. Despite fasciotomies of both the calves and thighs, he died 72 hours after admission to hospital. A 4-fold rise in the antibody titer to influenza B virus was demonstrated. The proband, then 13 years old, developed similar symptoms of viral illness associated with aching calves 2 days after his father's illness began. He showed markedly elevated creatine kinase but made a rapid recovery within 2 days. His creatine kinase remained persistently raised and his only sister also had a raised serum creatine kinase. The paternal grandfather of the proband, who had previously been healthy, died at the age of 33 years with renal failure after a similar flu-like illness. Although there was no family history of serious adverse response to anesthesia, in vitro muscle tests carried out on the proband at the age of 17 years showed that he was susceptible to MH. Muscle contracture occurred with both halothane and caffeine. </p><p>Denborough et al. (1982) found susceptibility to malignant hyperpyrexia and accompanying muscle abnormalities in 5 of 15 parents whose children had died of sudden infant death syndrome (SIDS). A 28-year-old man, whose son had died of SIDS at age 16 months, had had 3 cardiac arrests after appendectomy at age 19 and his mother had severe hyperpyrexia after hysterectomy. A 26-year-old man, whose daughter died of SIDS at age 4 months, had a sister, aged 12, with a severe myopathy affecting the legs since birth which was diagnosed as arthrogryposis multiplex. A woman, aged 27, whose son died of SIDS at age 10 weeks, had a grandfather who nearly died during anesthesia for arterial graft on his leg at age 55. Denborough et al. (1982) cited reports suggesting that many babies dying of SIDS have a high body temperature and show pathologic changes in the bowel resembling those of heat stroke. Gericke (1991) suggested that hyperthermia and heat shock proteins may have teratogenic effects on collagen during fetal life. </p><p>Deufel et al. (1992) reported a patient with chronic myopathy beginning at age 2 years and characterized by marked muscle weakness, elevated serum creatine kinase, and a distinct enlargement and increase of muscle mitochondria on biopsy. The IVCT showed a particularly severe MHS condition. Both parents had MHS, suggesting that the child was homozygous for the disorder. The findings suggested a link between MHS and myopathy. </p><p>Eng et al. (1978) observed malignant hyperthermia in a child with autosomal dominant central core muscle disease (CCD; 117000). Islander et al. (1995) presented the results of IVCT on family members of a girl with CCD. Although none of the other family members had a myopathy either clinically or by biopsy, 6 relatives in antecedent generations had either positive or equivocal in vitro contracture tests in a pattern consistent with autosomal dominant transmission of MHS. Islander et al. (1995) suggested that healthy members of families with a proband with CCD could be at risk for being susceptible to malignant hyperthermia even though they themselves do not have central core myopathy. They also suggested that CCD and susceptibility to malignant hyperthermia could be pleiotropic effects of the same gene. </p><p>Fagerlund et al. (1996) described a kindred in which a 2-year-old girl was found to have a severe form of central core disease. Although she was not studied with a diagnostic IVCT because of her young age, other members of her family were studied. MHS was diagnosed if both the test with halothane and the test with caffeine were pathologic, and malignant hyperthermia equivocal (MHE) if only one of the tests was pathologic. The proband's father and paternal grandmother were designated MHE, whereas a brother and a sister of the grandmother were labeled MHS. Surprisingly, DNA studies conducted on available family members uncovered recombination between the MHS locus and RYR1 markers, and none of 5 specific RYR1 gene mutations could be identified in the family. Fagerlund et al. (1996) concluded that because of the known heterogeneity of MHS and the possible heterogeneity of CCD, it is possible that 2 independent disorders were segregating in the family. </p><p>Tobin et al. (2001) reported the case of a 12-year-old boy who had an episode of malignant hyperthermia after general anesthesia for a fractured arm. Eight months later, the boy presented after playing in a football game with stress-induced hyperpyrexia, including diaphoresis, muscle weakness and stiffness, seizure activity, respiratory arrest, ventricular fibrillation, and acidosis. Postmortem examination was unremarkable, but a mutation in the RYR1 gene (180901.0004) was identified. The patient's father also carried the mutation. </p><p>Manning et al. (1998) reported 2 families with MHS. The proband in the first family had onset of an MH crisis at the age of 12 years while undergoing ophthalmic surgery. Ten minutes after initiation of anesthesia with halothane and succinylcholine, body temperature rose to 37.4 degrees C, accompanied by myoglobinuria, masseter spasm, and ventricular arrhythmia. The maximum potassium level was 4.8 mEq/l, and his maximum creatine kinase level rose dramatically. The patient survived without sequelae, although dantrolene therapy was not given. The proband in the second family had an MH crisis with halothane and succinylcholine while undergoing orthopedic surgery for the first time at age 27 years. The maximum temperature recorded during the crisis was 39.2 degrees C. The duration of anesthesia before development of the MH crisis was 90 minutes. Other characteristics of the crisis included masseter spasm, inappropriate tachypnea, and sinus tachycardia. The maximum heart rate was measured at 150 bpm and the maximal CK level was more than 2,500 U/l. Both patients had a mutation in the RYR1 gene (180901.0010). </p><p>Sambuughin et al. (2001) reported 2 unrelated families with MHS. The proband of 1 family developed life-threatening signs of MH when she was anesthetized for tonsillectomy at 9 years of age. Anesthesia was induced with thiopental sodium and maintained with halothane. On injection of succinylcholine to facilitate intubation of the trachea, the patient developed global skeletal muscle rigidity, and her mouth could not be opened. Two brothers had positive in vitro contracture tests, as did the patient. The proband in the second family developed signs of MH when she was anesthetized for maxillary-mandibular advancement-augmentation genioplasty at 15 years of age. Anesthesia was induced with propofol and fentanyl, and nasotracheal intubation was accomplished after topical application of lidocaine; anesthesia was maintained with isoflurane. Signs of MH developed between 1 and 2 hours after induction of anesthesia. Subsequently, the proband and her sister were found to have unequivocally MH-positive in vitro contracture responses to caffeine and to halothane. Affected members of both families had the same 3-bp deletion in the RYR1 gene (180901.0017). </p><p>Guis et al. (2004) reported a large family in which 17 patients were diagnosed with MHS by IVCT. The disorder was inherited in an autosomal dominant pattern. Muscle biopsy showed an unexpected presence of multiminicores in 16 of the 17 patients (95%). Multiminicore lesions were observed in both type 1 and type 2 fiber types. No central cores were identified. Genetic analysis detected a heterozygous allele with 2 missense mutations in cis in the RYR1 gene (180901.0023) which segregated with the disease phenotype. Only 2 of the 17 patients had clinical muscle involvement. Guis et al. (2004) emphasized that the phenotype in this family was strikingly different from any reported phenotype, demonstrating a significant link between MHS and multiminicore myopathy. </p><p>Sambuughin et al. (2009) found that 3 of 6 African American men with exertional rhabdomyolysis had putative mutations in the RYR1 gene. Exertional rhabdomyolysis was defined as acute muscle necrosis with myalgias, swollen muscle, increased serum creatine kinase, and myoglobinuria after strenuous physical exercise. All 6 patients were diagnosed with MHS after the caffeine and halothane contracture test on skeletal muscle biopsy. Only 1 of the patients had a clinical episode of malignant hyperthermia during anesthesia, but he did not carry a pathogenic RYR1 mutation. The findings suggested that there may be a relationship between exertional rhabdomyolysis and MHS, and Sambuughin et al. (2009) suggested that some patients with unexplained exertional rhabdomyolysis may have a mutation in the RYR1 gene. </p>
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<strong>Inheritance</strong>
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<p>Kalow (1970) reported an extensively affected kindred exhibiting autosomal dominant inheritance of malignant hyperpyrexia and referred to 11 other instances of familial occurrence. He noted that muscular rigidity is a feature of the syndrome. </p><p>McPherson and Taylor (1982) reported 12 Wisconsin families segregating MHS, some of which were extensively affected in a dominant pedigree pattern. </p><p>Ellis et al. (1978) and Nelson and Flewellen (1983) concluded that malignant hyperthermia exhibits multifactorial inheritance. </p>
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<strong>Diagnosis</strong>
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<p>Denborough (1977) developed an in vitro contracture test (IVCT) for malignant hyperpyrexia using a small segment of skeletal muscle from patients. Caffeine, halothane, succinylcholine, and increased potassium induced exaggerated contractions. A dilantin-like drug inhibited the halothane response and the basal twitch in vitro, and presumably could have prophylactic value in vivo. Denborough (1977) noted that high CPK and muscle wasting were useful in identifying subclinical affected persons.</p><p>Ball and Johnson (1993) suggested that only about 50% of families with malignant hyperthermia have a mutation of the skeletal muscle RYR1 gene on 19q13.1-q13.2. Thus, presymptomatic testing based on DNA markers can be offered only to a limited number of families where linkage to markers from that region has clearly been shown. </p><p>Hogan (1997) pointed out that normothermia does not rule out the diagnosis of malignant hyperthermia. Hyperthermia may be a late sign, as in the proband described by Monnier et al. (1997). </p><p>Anetseder et al. (2002) proposed a minimally invasive test for susceptibility to malignant hyperthermia as a substitute for the contracture test, which requires an open muscle biopsy sample. They postulated that intramuscular injection of caffeine increases local carbon dioxide pressure in individuals susceptible to hyperthermia but not in those who are nonsusceptible or in healthy individuals. They measured carbon dioxide pressure in the rectus femoris muscle during local stimulation with caffeine injections in 12 patients susceptible to malignant hyperthermia, in 8 nonsusceptible individuals, and in 7 healthy controls. A clean separation was observed in carbon dioxide pressure values between susceptible and nonsusceptible individuals. </p><p>Monnier et al. (2005) reported the results of correlation studies performed with molecular, pharmacologic, histologic, and functional data obtained from 129 IVCT-confirmed MHS families and 46 potential MHS families. Extensive molecular analysis identified a variant in 60% of the MHS families with positive IVCT tests. Using functional analysis, Monnier et al. (2005) assigned a causative role for 7 RYR1 mutations that they proposed to add to the panel of MHS mutations used for genetic testing. IVCT testing in 196 genetically-confirmed MHS patients resulted in 99.5% sensitivity. IVCT-positive/mutation-negative diagnoses were established in 3.1% of 160 tested patients who did not carry the family mutation, although the authors suggested the possibility of a second MHS trait in such families. </p>
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<strong>Clinical Management</strong>
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<p>Nelson and Flewellen (1983) noted that dantrolene sodium is the primary specific therapeutic agent for malignant hyperthermia. 'Dantrium' can be given intravenously. Oral administration of dantrolene has been approved by the FDA for prophylactic oral administration before surgery. Dantrolene is used for chronic spasticity and its effectiveness in malignant hyperthermia appears to be related to its action on skeletal muscle where it associates the excitation-contraction coupling, probably by interfering with the release of Ca(2+) from the sarcoplasmic reticulum. </p>
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<strong>Biochemical Features</strong>
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<p>Schmitt et al. (1974) reported a family in which 2 children had died from malignant hyperpyrexia. Skeletal muscle biopsy from the father and brother of the propositi showed a decrease of muscle adenylate kinase (AK2; 103020). Schmitt et al. (1974) suggested that malignant hyperpyrexia may develop in patients with decreased AK2 due to an inability to regenerate ATP. In 3 survivors of malignant hyperthermia and in 5 relatives of survivors who showed a positive caffeine contracture test, Cerri et al. (1981) found no deficiency of muscle adenylate cyclase. In contrast, Willner et al. (1981) found that the activity of adenylate cyclase and the content of cyclic AMP was abnormally high in skeletal muscle of patients with malignant hyperthermia. They suggested that secondary modification of protein phosphorylation could explain observed abnormalities of phosphorylase activation and sarcoplasmic reticulum function in the disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Noting that MHS in the pig (see ANIMAL MODEL) is linked to glucose phosphate isomerase (GPI; 172400) which belongs to a linkage group conserved in vertebrates, McCarthy et al. (1989, 1990) investigated human chromosome 19, which carries the GPI gene, in several families with MHS. They found that MHS is tightly linked to CYP2A (122720) (maximum lod of 5.65 at theta = 0) and is flanked by APOC2 (608083) and DNA marker S9. The authors concluded that both human and porcine MHS are due to mutations in homologous genes. </p><p>MacLennan et al. (1990) reported linkage of several MHS families to chromosome 19 markers, including markers within the RYR1 gene (lod score of 4.20) at a linkage distance of 0.0 cM. The authors concluded that the basic defect in MHS resides in the RYR1 gene. Noting that the RYR1 gene maps to chromosome 19q, which is syntenic to the candidate gene for malignant hyperthermia on porcine chromosome 6, MacKenzie et al. (1990) also suggested that the RYR1 gene may be the cause of human MHS. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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In 3 unrelated families with MHS, Levitt et al. (1991) excluded linkage of the MHS phenotype to loci on 19q13.1, indicating genetic heterogeneity. Fagerlund et al. (1992) studied 8 Swedish MH families with respect to a BanI RFLP of the RYR1 gene (called by them CRC for calcium release channel of the sarcoplasmic reticulum). Three of the families were informative for genetic linkage and 2 of them showed recombinants, indicating that the mutation in those families was not in the RYR1 gene. Deufel et al. (1992) and Iles et al. (1992) excluded close linkage to RYR1 in 2 Bavarian MHS families with MHS and in 2 additional MHS families, respectively. The work of Levitt et al. (1992) suggested that at least 3 separate loci are responsible for susceptibility to malignant hyperthermia. </p><p>Because in some pedigrees phenotypic and genotypic data are discordant, Robinson et al. (2000) suggested that susceptibility to malignant hyperthermia is dependent upon the effects of more than one gene. Using the transmission disequilibrium test in a study of 130 MH nuclear families, they assessed the involvement of 8 malignant hyperthermia candidate loci: RYR1, CACNA1S (114208), CACNA2D1 (114204), MHS4 (600467), MHS6 (601888), LIPE (151750), DM1 (160900), and dystrophin (300377). The authors concluded that the results pointed to variation in more than one gene as influencing MH susceptibility in individual families. Using family stratification data, Robinson et al. (2003) confirmed a role in MH susceptibility for loci on chromosomes 5 and 7 in RYR1-linked families, with the influence of chromosomes 1 and 3 being less clear. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In several porcine breeds that exhibited inheritance of malignant hyperthermia, Otsu et al. (1991) and Fujii et al. (1991) identified an A615R mutation in the Ryr1 gene. In 1 of 35 Canadian families with malignant hyperthermia, Gillard et al. (1991) identified heterozygosity for the same mutation, which is A614R (180901.0001) in humans. </p><p>In patients with malignant hyperthermia, Manning et al. (1998) identified 4 adjacent mutations in the RYR1 gene: R2163C (180901.0010), R2163H (180901.0011), V2168M (180901.0013), and T2206M (180901.0014). </p><p>Monnier et al. (2005) identified 11 new variants in the RYR1 gene in affected members of families with MHS1. Most mutations clustered in the MH1 and MH2 domains of the RYR1 gene. </p><p>Johnston et al. (2021) reported an adaptation of the American College of Medical Genetics/Association for Molecular Pathology (ACMG/AMP) pathogenicity criteria by a variant curation expert panel for the classification of RYR1 variants in malignant hyperthermia susceptibility. Using the new criteria, 44 RYR1 gene mutations previously determined to be diagnostic by the European Malignant Hyperthermia Group (EMHG) were categorized: 29 were classified as pathogenic, 13 as likely pathogenic, and 2 as variants of unknown significance. Johnston et al. (2021) concluded that use of the new criteria should allow for more consistent classification of RYR1 mutations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nelson and Flewellen (1983) cited a frequency of malignant hyperthermia of 1 in 15,000 anesthetic administrations to children and 1 in 50,000 to 100,000 in adults. </p><p>The international incidence of malignant hyperthermia was stated by Hogan (1997) to be 1 in 50,000 anesthetics. Children are at special risk, with approximately 1 in 5,000 to 10,000 pediatric anesthetics using trigger drugs complicated by malignant hyperthermia. A higher incidence is encountered in geographically defined populations, such as residents of north-central Wisconsin, aboriginal inhabitants of North Carolina, valley dwellers in parts of Austria, and descendants of settlers in Quebec. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ohnishi and Ohnishi (1994) edited a comprehensive multiauthored treatise on malignant hyperthermia. The history of the Malignant Hyperthermia Association of the United States and the British Malignant Hyperthermia Association was recounted in separate chapters.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The malignant hyperthermia that occurs on the basis of a genetic defect in Landrace pigs is not only clinically identical with the human syndrome, but also identical in many of the biochemical features (Britt and Kalow, 1970). Smith and Bampton (1977) concluded that the malignant hyperthermia syndrome is autosomal recessive in pigs. </p><p>Foster et al. (1989) showed that the sarcoplasmic reticulum from muscle of swine with susceptibility to malignant hyperpyrexia was deficient in inositol 1,4,5-trisphosphate phosphatase, which leads to high intracellular concentrations of inositol 1,4,5-trisphosphate phosphatase and calcium ions. Halothane inhibited the enzyme and further increased myoplasmic inositol 1,4,5-trisphosphate and calcium ion concentrations, which produced the clinical features of malignant hyperpyrexia. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Aldrete et al. (1971); European Malignant Hyperpyrexia Group (1984);
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Gallant and Ahern (1983); Isaacs and Barlow (1970); Kalow et al.
|
|
(1970); King and Denborough (1973); MacLennan and Phillips (1992);
|
|
Moulds et al. (1974); Moulds and Denborough (1974); Nelson et al.
|
|
(1977); Nelson et al. (1974); Ording et al. (1984); Stephen (1967);
|
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Stephen (1977); Willner et al. (1980)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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Aldrete, J. A., Padfield, A., Solomon, C. C., Rubright, M. W.
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<strong>Possible predictive tests for malignant hyperthermia during anesthesia.</strong>
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JAMA 215: 1465-1469, 1971.
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Anetseder, M., Hager, M., Muller, C. R., Roewer, N.
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Denborough, M. A., Ebeling, P., King, J. O., Zapf, P. W.
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<strong>Myopathy and malignant hyperpyrexia.</strong>
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Lancet 295: 1138-1140, 1970. Note: Originally Volume I.
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Denborough, M. A., Forster, J. F. A., Hudson, M. C., Carter, N. G., Zapf, P. W.
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Lancet 295: 1137-1138, 1970. Note: Originally Volume I.
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Denborough, M. A., Forster, J. F. A., Lovell, R. R. H., Maplestone, P. A., Villiers, J. D.
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<strong>Anaesthetic death in a family.</strong>
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Brit. J. Anaesth. 34: 395-396, 1962.
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Denborough, M. A., Galloway, G. J., Hopkinson, K. C.
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<strong>Malignant hyperpyrexia and sudden infant death.</strong>
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Lancet 320: 1068-1069, 1982. Note: Originally Volume II.
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[PubMed: 6127545]
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[Full Text: https://doi.org/10.1016/s0140-6736(82)90005-8]
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Denborough, M. A., McLean, A., Morgan, G., Hopkinson, K. C.
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<strong>Fatal inherited rhabdomyolysis and malignant hyperthermia. (Letter)</strong>
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Denborough, M. A.
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<strong>Personal Communication.</strong>
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Canberra, Australia 3/28/1977.
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<strong>Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.</strong>
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<strong>Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations.</strong>
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Eng, G. D., Epstein, B. S., Engel, W. K., McKay, D. W., McKay, R.
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Arch. Neurol. 35: 189-197, 1978.
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European Malignant Hyperpyrexia Group.
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Brit. J. Anaesth. 56: 1267-1269, 1984.
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Fagerlund, T. H., Islander, G., Ranklev-Twetman, E., Berg, K.
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<strong>Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.</strong>
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Clin. Genet. 50: 455-458, 1996.
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Fagerlund, T., Islander, G., Ranklev, E., Harbitz, I., Hauge, J. G., Mokleby, E., Berg, K.
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[PubMed: 1318804]
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<p class="mim-text-font">
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Foster, P. S., Gesini, E., Claudianos, C., Hopkinson, K. C., Denborough, M. A.
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<strong>Inositol 1,4,5-trisphosphate phosphatase deficiency and malignant hyperpyrexia in swine.</strong>
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[PubMed: 2567894]
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</p>
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<li>
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<p class="mim-text-font">
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Fujii, J., Otsu, K., Zorzato, F., de Leon, S., Khanna, V. K., Weiler, J. E., O'Brien, P. J., MacLennan, D. H.
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<strong>Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.</strong>
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Science 253: 448-451, 1991.
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[PubMed: 1862346]
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</p>
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<li>
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<p class="mim-text-font">
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Gallant, E. M., Ahern, C. P.
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<strong>Malignant hyperthermia: response of skeletal muscles to general anesthetics.</strong>
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Mayo Clin. Proc. 58: 758-763, 1983.
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[PubMed: 6355673]
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</p>
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<li>
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<p class="mim-text-font">
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Gericke, G. S.
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<strong>Fragile collagen and the lethal multiple pterygium syndrome: does heat stress play a role? (Letter)</strong>
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Am. J. Med. Genet. 38: 630-631, 1991.
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[PubMed: 2063909]
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Sambuughin, N., McWilliams, S., de Bantel, A., Sivakumar, K., Nelson, T. E.
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<strong>Hereditary malignant hyperpyrexia associated with muscle adenylate kinase deficiency.</strong>
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Humangenetik 24: 253-357, 1974.
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Smith, C., Bampton, P. R.
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<strong>Inheritance of reaction to halothane anaesthesia in pigs.</strong>
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Genet. Res. 29: 287-292, 1977.
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Stephen, C. R.
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<strong>Fulminant hyperthermia during anesthesia and surgery.</strong>
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JAMA 202: 178-182, 1967.
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Annu. Rev. Med. 28: 153-157, 1977.
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Willner, J. H., Cerri, C. G., Wood, D. S.
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Willner, J. H., Wood, D. S., Cerri, C., Britt, B.
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<strong>Increased myophosphorylase A in malignant hyperthermia.</strong>
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Wilson, R. D., Dent, T. E., Traber, D. L., McCoy, N. R., Allen, C. R.
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<strong>Malignant hyperpyrexia with anesthesia.</strong>
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Hilary J. Vernon - updated : 08/27/2021<br>Cassandra L. Kniffin - updated : 6/5/2013<br>Cassandra L. Kniffin - updated : 12/23/2010<br>Victor A. McKusick - updated : 11/22/2005<br>Cassandra L. Kniffin - reorganized : 6/3/2004<br>Cassandra L. Kniffin - updated : 6/1/2004<br>Victor A. McKusick - updated : 1/23/2003<br>Victor A. McKusick - updated : 6/26/2002<br>Victor A. McKusick - updated : 1/5/2001<br>Victor A. McKusick - updated : 7/28/1998<br>Victor A. McKusick - updated : 6/17/1997<br>Orest Hurko - updated : 9/27/1995
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