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<title>
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Entry
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- #608390 - MYOTONIA, POTASSIUM-AGGRAVATED
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- OMIM
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<span class="h4">#608390</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/608390"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MYOTONIA, POTASSIUM-AGGRAVATED) OR (SCN4A)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=610&Typ=Pat" title="Potassium-aggravated myotonia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Potassium-aggravated myoto… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14307&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Myotonia fluctuans </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14308&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Myotonia permanens </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14309&Typ=Pat" title="Acetazolamide-responsive myotonia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Acetazolamide-responsive m… </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5901" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608390[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=612" title="Potassium-aggravated myotonia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Potassium-aggravated myoto…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Myotonia fluctuans</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Myotonia permanens</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99736" title="Acetazolamide-responsive myotonia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Acetazolamide-responsive m…</a></div>
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<div><a href="https://omia.org/OMIA000785/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="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> 702355008, 715788001<br />
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<strong>ICD10CM:</strong> G71.12, G71.19<br />
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<strong>ORPHA:</strong> 612, 99734, 99735, 99736<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>
|
|
608390
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
MYOTONIA, POTASSIUM-AGGRAVATED
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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>
|
|
<span class="mim-font">
|
|
MYOTONIA FLUCTUANS<br />
|
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MYOTONIA PERMANENS<br />
|
|
SODIUM CHANNEL MUSCLE DISEASE<br />
|
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MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE<br />
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|
MYOTONIA CONGENITA, ATYPICAL
|
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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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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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|
<span class="mim-font">
|
|
Other entities represented in this entry:
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</span>
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</p>
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</div>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
LARYNGOSPASM, SEVERE NEONATAL EPISODIC, INCLUDED; SNEL, INCLUDED
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</span>
|
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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>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/852?start=-3&limit=10&highlight=852">
|
|
17q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Myotonia congenita, atypical, acetazolamide-responsive
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608390"> 608390 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SCN4A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603967"> 603967 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/608390" 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>
|
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|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608390" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608390" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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>
|
|
|
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Apnea, episodic, neonatal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552066</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248583008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248583008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1023001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1023001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.03</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002104</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Larynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Laryngospasm, neonatal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552067</a>]</span><br /> -
|
|
Stridor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70407001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70407001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038450&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038450</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010307</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Myotonia, potassium-sensitive (may be responsive to acetazolamide) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969487</a>]</span><br /> -
|
|
Muscle weakness usually does not occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842114</a>]</span><br /> -
|
|
Muscle pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
|
|
Muscle stiffness <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=C0221170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span><br /> -
|
|
Muscle hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249829006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249829006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0236033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236033</a>, <a href="https://bioportal.bioontology.org/search?q=C2265792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2265792</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span><br /> -
|
|
Cold sensitivity has been reported <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842119</a>]</span><br /> -
|
|
EMG in myotonia permanens shows continuous myotonic activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969488</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
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- Serum creatine kinase may be increased <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969489</a>]</span><br />
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- Highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')<br /> -
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Allelic disorder to paramyotonia congenita (<a href="/entry/168300">168300</a>)<br /> -
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Allelic disorder to hyperkalemic periodic paralysis (HYPP, <a href="/entry/608390">608390</a>)<br /> -
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Allelic disorder to hypokalemic periodic paralysis (HOKPP, <a href="/entry/170400">170400</a>)<br />
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- Caused by mutation in the type IV, voltage-gated sodium channel, alpha-subunit gene (SCN4A, <a href="/entry/603967#0009">603967.0009</a>)<br />
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<div class="mim-changed mim-change"><p>A number sign (#) is used with this entry because all forms of potassium-aggravated myotonia are caused by heterozygous mutation in the SCN4A gene (<a href="/entry/603967">603967</a>) on chromosome 17q23. Allelic disorders with overlapping clinical phenotypes include hyperkalemic periodic paralysis (HYPP; <a href="/entry/170500">170500</a>) and paramyotonia congenita (PMC; <a href="/entry/168300">168300</a>).</p></div>
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<p>Myotonia congenita (<a href="/entry/160800">160800</a>) is a distinct disorder caused by mutation in a skeletal muscle chloride channel gene (CLCN1; <a href="/entry/118425">118425</a>).</p>
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<p>In a report on the 37th ENMC Workshop, <a href="#13" class="mim-tip-reference" title="Rudel, R., Lehmann-Horn, F. <strong>Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995.</strong> Neuromusc. Disord. 7: 127-132, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9131654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9131654</a>] [<a href="https://doi.org/10.1016/s0960-8966(96)00418-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9131654">Rudel and Lehmann-Horn (1997)</a> stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9131654" 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="#14" class="mim-tip-reference" title="Trudell, R. G., Kaiser, K. K., Griggs, R. C. <strong>Acetazolamide responsive myotonia congenita.</strong> Neurology 37: 488-491, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3822145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3822145</a>] [<a href="https://doi.org/10.1212/wnl.37.3.488" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3822145">Trudell et al. (1987)</a> reported 14 patients from a kindred with an autosomal dominant form of myotonia characterized by painful muscle stiffness that was provoked by fasting and oral potassium administration. Acetazolamide treatment was effective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3822145" 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>Studies by <a href="#5" class="mim-tip-reference" title="Iaizzo, P. A., Franke, C., Hatt, H., Spittelmeister, W., Ricker, K., Rudel, R., Lehmann-Horn, F. <strong>Altered sodium channel behaviour causes myotonia in autosomal dominantly inherited myotonia congenita.</strong> Neuromusc. Disord. 1: 47-53, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1668369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1668369</a>] [<a href="https://doi.org/10.1016/0960-8966(91)90042-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1668369">Iaizzo et al. (1991)</a> implicated sodium channel dysfunction as the primary defect in some forms of autosomal dominant myotonia congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1668369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lerche, H., Heine, R., Pika, U., George, A. L., Jr., Mitrovic, N., Browatzki, M., Weiss, T., Rivet-Bastide, M., Franke, C., Lomonaco, M., Ricker, K., Lehmann-Horn, F. <strong>Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.</strong> J. Physiol. 470: 13-22, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8308722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8308722</a>] [<a href="https://doi.org/10.1113/jphysiol.1993.sp019843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8308722">Lerche et al. (1993)</a> reported 4 patients from 3 families with a form of myotonia distinct from HYPP and PMC. The first patient had severe permanent myotonia with occasional stiffness of the respiratory muscles and resultant hypoxia. A mother and son of a second family had exercise-induced myotonia, and a third unrelated patient had fluctuant myotonia. All had a nondystrophic generalized myotonia that was not associated with muscle weakness or cold, but was aggravated by oral potassium intake. <a href="#7" class="mim-tip-reference" title="Lerche, H., Heine, R., Pika, U., George, A. L., Jr., Mitrovic, N., Browatzki, M., Weiss, T., Rivet-Bastide, M., Franke, C., Lomonaco, M., Ricker, K., Lehmann-Horn, F. <strong>Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.</strong> J. Physiol. 470: 13-22, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8308722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8308722</a>] [<a href="https://doi.org/10.1113/jphysiol.1993.sp019843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8308722">Lerche et al. (1993)</a> postulated that the underlying phenotype was the same in these patients, despite some clinical variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8308722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Ricker, K., Moxley, R. T., III, Heine, R., Lehmann-Horn, F. <strong>Myotonia fluctuans: a third type of muscle sodium channel disease.</strong> Arch. Neurol. 51: 1095-1102, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980103</a>] [<a href="https://doi.org/10.1001/archneur.1994.00540230033009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7980103">Ricker et al. (1994)</a> defined 'myotonia fluctuans' as a disorder of the muscle sodium channel. Three families, with 17 affected members, showed myotonia caused by prolongation of relaxation times that developed 20 to 40 minutes after exercise. Potassium loading also caused myotonia, and cooling had no major effect on muscle function. <a href="#12" class="mim-tip-reference" title="Ricker, K., Moxley, R. T., III, Heine, R., Lehmann-Horn, F. <strong>Myotonia fluctuans: a third type of muscle sodium channel disease.</strong> Arch. Neurol. 51: 1095-1102, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980103</a>] [<a href="https://doi.org/10.1001/archneur.1994.00540230033009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7980103">Ricker et al. (1994)</a> stated that myotonia fluctuans belongs to a third type of sodium channel disorder distinct from HYPP and PMC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980103" 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="Orrell, R. W., Jurkat-Rott, K., Lehmann-Horn, F., Lane, R. J. M. <strong>Familial cramp due to potassium-aggravated myotonia.</strong> J. Neurol. Neurosurg. Psychiat. 65: 569-572, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771789</a>] [<a href="https://doi.org/10.1136/jnnp.65.4.569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771789">Orrell et al. (1998)</a> reported a family with autosomal dominant inheritance of potassium-aggravated myotonia. The proband had experienced cramps in the toes, fingers, and eyelids, especially when tired or cold, throughout her life, and physical examination showed mild myotonia. There was no muscle weakness. Her mother and several other family members had a similar phenotype. An unusual feature was the occurrence of painful cramps. <a href="#9" class="mim-tip-reference" title="Orrell, R. W., Jurkat-Rott, K., Lehmann-Horn, F., Lane, R. J. M. <strong>Familial cramp due to potassium-aggravated myotonia.</strong> J. Neurol. Neurosurg. Psychiat. 65: 569-572, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771789</a>] [<a href="https://doi.org/10.1136/jnnp.65.4.569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771789">Orrell et al. (1998)</a> noted that there was variability of symptoms from day to day, which is similar to myotonia fluctuans. A mild reduction in amplitude of compound muscle action potential on cooling and administration of potassium was demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Ptacek, L. J., Tawil, R., Griggs, R. C., Meola, G., McManis, P., Barohn, R. J., Mendell, J. R., Harris, C., Spitzer, R., Santiago, F., Leppert, M. F. <strong>Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.</strong> Neurology 44: 1500-1503, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058156</a>] [<a href="https://doi.org/10.1212/wnl.44.8.1500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8058156">Ptacek et al. (1994)</a> reported acetazolamide-responsive myotonia congenita in which myotonia was worsened by potassium, but episodic weakness did not occur. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8058156" 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="#1" class="mim-tip-reference" title="Colding-Jorgensen, E., Duno, M., Vissing, J. <strong>Autosomal dominant monosymptomatic myotonia permanens.</strong> Neurology 67: 153-155, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832098</a>] [<a href="https://doi.org/10.1212/01.wnl.0000223838.88872.da" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16832098">Colding-Jorgensen et al. (2006)</a> reported a family with autosomal dominant myotonia permanens spanning 5 generations. The proband and his affected son were examined in detail, but there were 10 additional family members who were reportedly affected. The proband was a 48-year-old man who had severe and painful myotonic stiffness since early childhood that was aggravated after physical exertion, cold weather, fever, or ingestion of potassium-rich foods. He has never experienced serious respiratory problems due to myotonia and had had employment requiring physical exertion. Examination showed pronounced myotonia in all muscles on exertion or percussion. Serum creatine kinase was increased, and electromyography (EMG) showed continuous myotonic activity. His 9-year-old son had similar symptoms since birth and participates in sports. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16832098" 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="Dupre, N., Chrestian, N., Bouchard, J.-P., Rossignol, E., Brunet, D., Sternberg, D., Brias, B., Mathieu, J., Puymirat, J. <strong>Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.</strong> Neuromusc. Disord. 19: 330-334, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18337100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18337100</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18337100">Dupre et al. (2009)</a> reported French Canadian patients with a severe painful generalized myotonia with muscle hypertrophy associated with a mutation in the SCN4A gene (V445M; <a href="/entry/603967#0014">603967.0014</a>). Myotonia was significantly alleviated by ethanol or mexiletine in 1 of these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18337100" 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>Severe Neonatal Episodic Laryngospasm</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Lion-Francois, L., Mignot, C., Vicart, S., Manel, V., Sternberg, D., Landrieu, P., Lesca, G., Broussolle, E., Billette de Villemeur, T., Napuri, S., des Portes, V., Fontaine, B. <strong>Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.</strong> Neurology 75: 641-645, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20713951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20713951</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181ed9e96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20713951">Lion-Francois et al. (2010)</a> reported 3 unrelated neonates with sodium channel myotonias who each experienced recurrent life-threatening episodic apnea due to laryngospasm. The attacks were associated with stridor and generalized stiffness, followed by hypotonia, cyanosis, and bradycardia. There were no apparent triggering factors, and examinations between episodes were normal in 2, although all showed feeding difficulties. EMG in all 3 children showed continuous myotonic discharges. One child died of respiratory arrest at age 2.5 months. Both surviving children showed marked muscle hypertrophy at age 6 months, with handgrip, palpebral, and tongue myotonia in one and exacerbation of myotonia with cold in the other. Carbamazapine or mexiletine were effective treatments. <a href="#8" class="mim-tip-reference" title="Lion-Francois, L., Mignot, C., Vicart, S., Manel, V., Sternberg, D., Landrieu, P., Lesca, G., Broussolle, E., Billette de Villemeur, T., Napuri, S., des Portes, V., Fontaine, B. <strong>Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.</strong> Neurology 75: 641-645, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20713951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20713951</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181ed9e96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20713951">Lion-Francois et al. (2010)</a> noted the severe neonatal phenotype observed in these patients, and emphasized that early recognition is imperative for proper treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20713951" 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>Among 22 patients with PMC, 14 with sodium channel myotonia, and 18 myotonia patients with mutations in the CLCN1 gene (<a href="/entry/118425">118425</a>), <a href="#3" class="mim-tip-reference" title="Fournier, E., Viala, K., Gervais, H., Sternberg, D., Arzel-Hezode, M., Laforet, P., Eymard, B., Tabti, N., Willer, J.-C., Vial, C., Fontaine, B. <strong>Cold extends electromyography distinction between ion channel mutations causing myotonia.</strong> Ann. Neurol. 60: 356-365, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16786525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16786525</a>] [<a href="https://doi.org/10.1002/ana.20905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16786525">Fournier et al. (2006)</a> found that cold temperature was able to exaggerate electromyographic findings in a way that enabled a clear correlation between EMG findings and genetic defects. Those with PMC showed a clear worsening of compound muscle action potential with cold temperature. Those with sodium channel myotonia tended not to show a decline in compound action muscle potentials, whereas those with myotonia due to CLCN1 mutations tended to show improvement of the muscle potential with exercise, concomitant with the clinical warm-up phenomenon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16786525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family with acetazolamide-responsive atypical myotonia congenita, <a href="#11" class="mim-tip-reference" title="Ptacek, L. J., Tawil, R., Griggs, R. C., Storvick, D., Leppert, M. <strong>Linkage of atypical myotonia congenita to a sodium channel locus.</strong> Neurology 42: 431-433, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1310531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1310531</a>] [<a href="https://doi.org/10.1212/wnl.42.2.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1310531">Ptacek et al. (1992)</a> found linkage to SCN4A; maximum lod score = 3.56 to 4.19 at theta = 0.0, depending on assumed penetrance varying from 0.7 to 1.0. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1310531" 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="#7" class="mim-tip-reference" title="Lerche, H., Heine, R., Pika, U., George, A. L., Jr., Mitrovic, N., Browatzki, M., Weiss, T., Rivet-Bastide, M., Franke, C., Lomonaco, M., Ricker, K., Lehmann-Horn, F. <strong>Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.</strong> J. Physiol. 470: 13-22, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8308722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8308722</a>] [<a href="https://doi.org/10.1113/jphysiol.1993.sp019843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8308722">Lerche et al. (1993)</a> identified heterozygous missense mutations in the same codon of the SCN4A gene (G1306V; <a href="/entry/603967#0007">603967.0007</a>, G1306A; <a href="/entry/603967#0012">603967.0012</a>, and G1306E; <a href="/entry/603967#0025">603967.0025</a>) in patients with exercise and potassium-aggravated myotonia, myotonia fluctuans, and myotonia permanens, respectively. Patch-clamp recordings on patient muscle samples showed slower sodium fast channel inactivation and an increase in late channel opening, resulting in a steady-state inward current, sustained muscle depolarization, and muscle fiber hyperexcitability. The findings indicated that SCN4A residue 1306 is important for sodium channel inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8308722" 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 patient with acetazolamide-responsive myotonia congenita that was worsened by potassium, <a href="#10" class="mim-tip-reference" title="Ptacek, L. J., Tawil, R., Griggs, R. C., Meola, G., McManis, P., Barohn, R. J., Mendell, J. R., Harris, C., Spitzer, R., Santiago, F., Leppert, M. F. <strong>Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.</strong> Neurology 44: 1500-1503, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058156</a>] [<a href="https://doi.org/10.1212/wnl.44.8.1500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8058156">Ptacek et al. (1994)</a> identified a mutation in the SCN4A gene (<a href="/entry/603967#0010">603967.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8058156" 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 myotonia fluctuans, <a href="#12" class="mim-tip-reference" title="Ricker, K., Moxley, R. T., III, Heine, R., Lehmann-Horn, F. <strong>Myotonia fluctuans: a third type of muscle sodium channel disease.</strong> Arch. Neurol. 51: 1095-1102, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980103</a>] [<a href="https://doi.org/10.1001/archneur.1994.00540230033009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7980103">Ricker et al. (1994)</a> identified 2 mutations in the SCN4A gene (<a href="/entry/603967#0006">603967.0006</a> and <a href="/entry/603967#0012">603967.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980103" 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 family with potassium-aggravated myotonia, <a href="#9" class="mim-tip-reference" title="Orrell, R. W., Jurkat-Rott, K., Lehmann-Horn, F., Lane, R. J. M. <strong>Familial cramp due to potassium-aggravated myotonia.</strong> J. Neurol. Neurosurg. Psychiat. 65: 569-572, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771789</a>] [<a href="https://doi.org/10.1136/jnnp.65.4.569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771789">Orrell et al. (1998)</a> identified a heterozygous missense mutation in the SCN4A gene (V1589M; <a href="/entry/603967#0009">603967.0009</a>). The authors noted that the same mutation had been identified in a family (<a href="#5" class="mim-tip-reference" title="Iaizzo, P. A., Franke, C., Hatt, H., Spittelmeister, W., Ricker, K., Rudel, R., Lehmann-Horn, F. <strong>Altered sodium channel behaviour causes myotonia in autosomal dominantly inherited myotonia congenita.</strong> Neuromusc. Disord. 1: 47-53, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1668369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1668369</a>] [<a href="https://doi.org/10.1016/0960-8966(91)90042-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1668369">Iaizzo et al., 1991</a>) with paramyotonia congenita by <a href="#4" class="mim-tip-reference" title="Heine, R., Pika, U., Lehmann-Horn, F. <strong>A novel SCN4A mutation causing myotonia aggravated by cold and potassium.</strong> Hum. Molec. Genet. 2: 1349-1353, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8242056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8242056</a>] [<a href="https://doi.org/10.1093/hmg/2.9.1349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8242056">Heine et al. (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8242056+1668369+9771789" 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="#1" class="mim-tip-reference" title="Colding-Jorgensen, E., Duno, M., Vissing, J. <strong>Autosomal dominant monosymptomatic myotonia permanens.</strong> Neurology 67: 153-155, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832098</a>] [<a href="https://doi.org/10.1212/01.wnl.0000223838.88872.da" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16832098">Colding-Jorgensen et al. (2006)</a> identified a heterozygous missense mutation in the SCN4A gene (G1306E; <a href="/entry/603967#0025">603967.0025</a>) in a father and son from a family with autosomal dominant myotonia permanens spanning 5 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16832098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated neonates with severe neonatal episodic laryngospasm, <a href="#8" class="mim-tip-reference" title="Lion-Francois, L., Mignot, C., Vicart, S., Manel, V., Sternberg, D., Landrieu, P., Lesca, G., Broussolle, E., Billette de Villemeur, T., Napuri, S., des Portes, V., Fontaine, B. <strong>Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.</strong> Neurology 75: 641-645, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20713951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20713951</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181ed9e96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20713951">Lion-Francois et al. (2010)</a> identified de novo heterozygous missense mutations in the SCN4A gene, including the G1306E mutation in 2 of the children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20713951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Lehmann-Horn, F., Rudel, R., Ricker, K. <strong>Non-dystrophic myotonias and periodic paralyses.</strong> Neuromusc. Disord. 3: 161-168, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7689382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7689382</a>] [<a href="https://doi.org/10.1016/0960-8966(93)90009-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7689382">Lehmann-Horn et al. (1993)</a> suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7689382" 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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<strong>Autosomal dominant monosymptomatic myotonia permanens.</strong>
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Neurology 67: 153-155, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16832098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000223838.88872.da" target="_blank">Full Text</a>]
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Dupre, N., Chrestian, N., Bouchard, J.-P., Rossignol, E., Brunet, D., Sternberg, D., Brias, B., Mathieu, J., Puymirat, J.
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<strong>Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.</strong>
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Neuromusc. Disord. 19: 330-334, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18337100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18337100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18337100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fournier, E., Viala, K., Gervais, H., Sternberg, D., Arzel-Hezode, M., Laforet, P., Eymard, B., Tabti, N., Willer, J.-C., Vial, C., Fontaine, B.
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<strong>Cold extends electromyography distinction between ion channel mutations causing myotonia.</strong>
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Ann. Neurol. 60: 356-365, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16786525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16786525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16786525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Heine, R., Pika, U., Lehmann-Horn, F.
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<strong>A novel SCN4A mutation causing myotonia aggravated by cold and potassium.</strong>
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Hum. Molec. Genet. 2: 1349-1353, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8242056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8242056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8242056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Iaizzo1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Iaizzo, P. A., Franke, C., Hatt, H., Spittelmeister, W., Ricker, K., Rudel, R., Lehmann-Horn, F.
|
|
<strong>Altered sodium channel behaviour causes myotonia in autosomal dominantly inherited myotonia congenita.</strong>
|
|
Neuromusc. Disord. 1: 47-53, 1991.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1668369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1668369</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1668369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0960-8966(91)90042-q" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Lehmann-Horn1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lehmann-Horn, F., Rudel, R., Ricker, K.
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|
<strong>Non-dystrophic myotonias and periodic paralyses.</strong>
|
|
Neuromusc. Disord. 3: 161-168, 1993.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7689382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7689382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7689382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0960-8966(93)90009-9" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Lerche1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lerche, H., Heine, R., Pika, U., George, A. L., Jr., Mitrovic, N., Browatzki, M., Weiss, T., Rivet-Bastide, M., Franke, C., Lomonaco, M., Ricker, K., Lehmann-Horn, F.
|
|
<strong>Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.</strong>
|
|
J. Physiol. 470: 13-22, 1993.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8308722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8308722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8308722" 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/10.1113/jphysiol.1993.sp019843" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Lion-Francois2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lion-Francois, L., Mignot, C., Vicart, S., Manel, V., Sternberg, D., Landrieu, P., Lesca, G., Broussolle, E., Billette de Villemeur, T., Napuri, S., des Portes, V., Fontaine, B.
|
|
<strong>Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.</strong>
|
|
Neurology 75: 641-645, 2010.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20713951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20713951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20713951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181ed9e96" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Orrell1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Orrell, R. W., Jurkat-Rott, K., Lehmann-Horn, F., Lane, R. J. M.
|
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<strong>Familial cramp due to potassium-aggravated myotonia.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 65: 569-572, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jnnp.65.4.569" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Ptacek1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ptacek, L. J., Tawil, R., Griggs, R. C., Meola, G., McManis, P., Barohn, R. J., Mendell, J. R., Harris, C., Spitzer, R., Santiago, F., Leppert, M. F.
|
|
<strong>Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.</strong>
|
|
Neurology 44: 1500-1503, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8058156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.44.8.1500" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Ptacek1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ptacek, L. J., Tawil, R., Griggs, R. C., Storvick, D., Leppert, M.
|
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<strong>Linkage of atypical myotonia congenita to a sodium channel locus.</strong>
|
|
Neurology 42: 431-433, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1310531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1310531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1310531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.42.2.431" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Ricker1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ricker, K., Moxley, R. T., III, Heine, R., Lehmann-Horn, F.
|
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<strong>Myotonia fluctuans: a third type of muscle sodium channel disease.</strong>
|
|
Arch. Neurol. 51: 1095-1102, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1994.00540230033009" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Rudel1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rudel, R., Lehmann-Horn, F.
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<strong>Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995.</strong>
|
|
Neuromusc. Disord. 7: 127-132, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9131654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9131654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9131654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(96)00418-x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Trudell1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Trudell, R. G., Kaiser, K. K., Griggs, R. C.
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<strong>Acetazolamide responsive myotonia congenita.</strong>
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Neurology 37: 488-491, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3822145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3822145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3822145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.37.3.488" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/20/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/27/2009<br>Cassandra L. Kniffin - updated : 12/3/2008<br>Cassandra L. Kniffin - updated : 10/24/2008<br>Cassandra L. Kniffin - updated : 6/29/2007
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/12/2004
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/07/2025
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/04/2023<br>ckniffin : 04/28/2023<br>carol : 10/20/2016<br>terry : 04/12/2012<br>wwang : 10/29/2010<br>ckniffin : 10/20/2010<br>wwang : 11/16/2009<br>ckniffin : 10/27/2009<br>wwang : 12/4/2008<br>ckniffin : 12/3/2008<br>wwang : 11/10/2008<br>ckniffin : 10/24/2008<br>wwang : 7/10/2007<br>ckniffin : 6/29/2007<br>carol : 1/23/2004<br>ckniffin : 1/15/2004
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 608390
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MYOTONIA, POTASSIUM-AGGRAVATED
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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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<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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MYOTONIA FLUCTUANS<br />
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MYOTONIA PERMANENS<br />
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SODIUM CHANNEL MUSCLE DISEASE<br />
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MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE<br />
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MYOTONIA CONGENITA, ATYPICAL
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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LARYNGOSPASM, SEVERE NEONATAL EPISODIC, INCLUDED; SNEL, INCLUDED
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</span>
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702355008, 715788001;
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<strong>ICD10CM:</strong> G71.12, G71.19;
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<strong>ORPHA:</strong> 612, 99734, 99735, 99736;
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
|
</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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17q23.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Myotonia congenita, atypical, acetazolamide-responsive
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</span>
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</td>
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<td>
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<span class="mim-font">
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608390
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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SCN4A
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</span>
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</td>
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<td>
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<span class="mim-font">
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603967
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because all forms of potassium-aggravated myotonia are caused by heterozygous mutation in the SCN4A gene (603967) on chromosome 17q23. Allelic disorders with overlapping clinical phenotypes include hyperkalemic periodic paralysis (HYPP; 170500) and paramyotonia congenita (PMC; 168300).</p><p>Myotonia congenita (160800) is a distinct disorder caused by mutation in a skeletal muscle chloride channel gene (CLCN1; 118425).</p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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 a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. </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>Clinical Features</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>Trudell et al. (1987) reported 14 patients from a kindred with an autosomal dominant form of myotonia characterized by painful muscle stiffness that was provoked by fasting and oral potassium administration. Acetazolamide treatment was effective. </p><p>Studies by Iaizzo et al. (1991) implicated sodium channel dysfunction as the primary defect in some forms of autosomal dominant myotonia congenita. </p><p>Lerche et al. (1993) reported 4 patients from 3 families with a form of myotonia distinct from HYPP and PMC. The first patient had severe permanent myotonia with occasional stiffness of the respiratory muscles and resultant hypoxia. A mother and son of a second family had exercise-induced myotonia, and a third unrelated patient had fluctuant myotonia. All had a nondystrophic generalized myotonia that was not associated with muscle weakness or cold, but was aggravated by oral potassium intake. Lerche et al. (1993) postulated that the underlying phenotype was the same in these patients, despite some clinical variability. </p><p>Ricker et al. (1994) defined 'myotonia fluctuans' as a disorder of the muscle sodium channel. Three families, with 17 affected members, showed myotonia caused by prolongation of relaxation times that developed 20 to 40 minutes after exercise. Potassium loading also caused myotonia, and cooling had no major effect on muscle function. Ricker et al. (1994) stated that myotonia fluctuans belongs to a third type of sodium channel disorder distinct from HYPP and PMC. </p><p>Orrell et al. (1998) reported a family with autosomal dominant inheritance of potassium-aggravated myotonia. The proband had experienced cramps in the toes, fingers, and eyelids, especially when tired or cold, throughout her life, and physical examination showed mild myotonia. There was no muscle weakness. Her mother and several other family members had a similar phenotype. An unusual feature was the occurrence of painful cramps. Orrell et al. (1998) noted that there was variability of symptoms from day to day, which is similar to myotonia fluctuans. A mild reduction in amplitude of compound muscle action potential on cooling and administration of potassium was demonstrated. </p><p>Ptacek et al. (1994) reported acetazolamide-responsive myotonia congenita in which myotonia was worsened by potassium, but episodic weakness did not occur. </p><p>Colding-Jorgensen et al. (2006) reported a family with autosomal dominant myotonia permanens spanning 5 generations. The proband and his affected son were examined in detail, but there were 10 additional family members who were reportedly affected. The proband was a 48-year-old man who had severe and painful myotonic stiffness since early childhood that was aggravated after physical exertion, cold weather, fever, or ingestion of potassium-rich foods. He has never experienced serious respiratory problems due to myotonia and had had employment requiring physical exertion. Examination showed pronounced myotonia in all muscles on exertion or percussion. Serum creatine kinase was increased, and electromyography (EMG) showed continuous myotonic activity. His 9-year-old son had similar symptoms since birth and participates in sports. </p><p>Dupre et al. (2009) reported French Canadian patients with a severe painful generalized myotonia with muscle hypertrophy associated with a mutation in the SCN4A gene (V445M; 603967.0014). Myotonia was significantly alleviated by ethanol or mexiletine in 1 of these patients. </p><p><strong><em>Severe Neonatal Episodic Laryngospasm</em></strong></p><p>
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Lion-Francois et al. (2010) reported 3 unrelated neonates with sodium channel myotonias who each experienced recurrent life-threatening episodic apnea due to laryngospasm. The attacks were associated with stridor and generalized stiffness, followed by hypotonia, cyanosis, and bradycardia. There were no apparent triggering factors, and examinations between episodes were normal in 2, although all showed feeding difficulties. EMG in all 3 children showed continuous myotonic discharges. One child died of respiratory arrest at age 2.5 months. Both surviving children showed marked muscle hypertrophy at age 6 months, with handgrip, palpebral, and tongue myotonia in one and exacerbation of myotonia with cold in the other. Carbamazapine or mexiletine were effective treatments. Lion-Francois et al. (2010) noted the severe neonatal phenotype observed in these patients, and emphasized that early recognition is imperative for proper treatment. </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>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Among 22 patients with PMC, 14 with sodium channel myotonia, and 18 myotonia patients with mutations in the CLCN1 gene (118425), Fournier et al. (2006) found that cold temperature was able to exaggerate electromyographic findings in a way that enabled a clear correlation between EMG findings and genetic defects. Those with PMC showed a clear worsening of compound muscle action potential with cold temperature. Those with sodium channel myotonia tended not to show a decline in compound action muscle potentials, whereas those with myotonia due to CLCN1 mutations tended to show improvement of the muscle potential with exercise, concomitant with the clinical warm-up phenomenon. </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>In a family with acetazolamide-responsive atypical myotonia congenita, Ptacek et al. (1992) found linkage to SCN4A; maximum lod score = 3.56 to 4.19 at theta = 0.0, depending on assumed penetrance varying from 0.7 to 1.0. </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>Lerche et al. (1993) identified heterozygous missense mutations in the same codon of the SCN4A gene (G1306V; 603967.0007, G1306A; 603967.0012, and G1306E; 603967.0025) in patients with exercise and potassium-aggravated myotonia, myotonia fluctuans, and myotonia permanens, respectively. Patch-clamp recordings on patient muscle samples showed slower sodium fast channel inactivation and an increase in late channel opening, resulting in a steady-state inward current, sustained muscle depolarization, and muscle fiber hyperexcitability. The findings indicated that SCN4A residue 1306 is important for sodium channel inactivation. </p><p>In a patient with acetazolamide-responsive myotonia congenita that was worsened by potassium, Ptacek et al. (1994) identified a mutation in the SCN4A gene (603967.0010). </p><p>In patients with myotonia fluctuans, Ricker et al. (1994) identified 2 mutations in the SCN4A gene (603967.0006 and 603967.0012). </p><p>In a family with potassium-aggravated myotonia, Orrell et al. (1998) identified a heterozygous missense mutation in the SCN4A gene (V1589M; 603967.0009). The authors noted that the same mutation had been identified in a family (Iaizzo et al., 1991) with paramyotonia congenita by Heine et al. (1993). </p><p>Colding-Jorgensen et al. (2006) identified a heterozygous missense mutation in the SCN4A gene (G1306E; 603967.0025) in a father and son from a family with autosomal dominant myotonia permanens spanning 5 generations. </p><p>In 3 unrelated neonates with severe neonatal episodic laryngospasm, Lion-Francois et al. (2010) identified de novo heterozygous missense mutations in the SCN4A gene, including the G1306E mutation in 2 of the children. </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">
|
|
<strong>Nomenclature</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">
|
|
<p>Lehmann-Horn et al. (1993) suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A 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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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
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<div>
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<p />
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|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Colding-Jorgensen, E., Duno, M., Vissing, J.
|
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<strong>Autosomal dominant monosymptomatic myotonia permanens.</strong>
|
|
Neurology 67: 153-155, 2006.
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[PubMed: 16832098]
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[Full Text: https://doi.org/10.1212/01.wnl.0000223838.88872.da]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Dupre, N., Chrestian, N., Bouchard, J.-P., Rossignol, E., Brunet, D., Sternberg, D., Brias, B., Mathieu, J., Puymirat, J.
|
|
<strong>Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.</strong>
|
|
Neuromusc. Disord. 19: 330-334, 2009.
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[PubMed: 18337100]
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[Full Text: https://doi.org/10.1016/j.nmd.2008.01.007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fournier, E., Viala, K., Gervais, H., Sternberg, D., Arzel-Hezode, M., Laforet, P., Eymard, B., Tabti, N., Willer, J.-C., Vial, C., Fontaine, B.
|
|
<strong>Cold extends electromyography distinction between ion channel mutations causing myotonia.</strong>
|
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Ann. Neurol. 60: 356-365, 2006.
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[PubMed: 16786525]
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[Full Text: https://doi.org/10.1002/ana.20905]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Heine, R., Pika, U., Lehmann-Horn, F.
|
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<strong>A novel SCN4A mutation causing myotonia aggravated by cold and potassium.</strong>
|
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Hum. Molec. Genet. 2: 1349-1353, 1993.
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[PubMed: 8242056]
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[Full Text: https://doi.org/10.1093/hmg/2.9.1349]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Iaizzo, P. A., Franke, C., Hatt, H., Spittelmeister, W., Ricker, K., Rudel, R., Lehmann-Horn, F.
|
|
<strong>Altered sodium channel behaviour causes myotonia in autosomal dominantly inherited myotonia congenita.</strong>
|
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Neuromusc. Disord. 1: 47-53, 1991.
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[PubMed: 1668369]
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[Full Text: https://doi.org/10.1016/0960-8966(91)90042-q]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lehmann-Horn, F., Rudel, R., Ricker, K.
|
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<strong>Non-dystrophic myotonias and periodic paralyses.</strong>
|
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Neuromusc. Disord. 3: 161-168, 1993.
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[PubMed: 7689382]
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[Full Text: https://doi.org/10.1016/0960-8966(93)90009-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lerche, H., Heine, R., Pika, U., George, A. L., Jr., Mitrovic, N., Browatzki, M., Weiss, T., Rivet-Bastide, M., Franke, C., Lomonaco, M., Ricker, K., Lehmann-Horn, F.
|
|
<strong>Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.</strong>
|
|
J. Physiol. 470: 13-22, 1993.
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[PubMed: 8308722]
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[Full Text: https://doi.org/10.1113/jphysiol.1993.sp019843]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lion-Francois, L., Mignot, C., Vicart, S., Manel, V., Sternberg, D., Landrieu, P., Lesca, G., Broussolle, E., Billette de Villemeur, T., Napuri, S., des Portes, V., Fontaine, B.
|
|
<strong>Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.</strong>
|
|
Neurology 75: 641-645, 2010.
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[PubMed: 20713951]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181ed9e96]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Orrell, R. W., Jurkat-Rott, K., Lehmann-Horn, F., Lane, R. J. M.
|
|
<strong>Familial cramp due to potassium-aggravated myotonia.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 65: 569-572, 1998.
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[PubMed: 9771789]
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[Full Text: https://doi.org/10.1136/jnnp.65.4.569]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Ptacek, L. J., Tawil, R., Griggs, R. C., Meola, G., McManis, P., Barohn, R. J., Mendell, J. R., Harris, C., Spitzer, R., Santiago, F., Leppert, M. F.
|
|
<strong>Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.</strong>
|
|
Neurology 44: 1500-1503, 1994.
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[PubMed: 8058156]
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[Full Text: https://doi.org/10.1212/wnl.44.8.1500]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ptacek, L. J., Tawil, R., Griggs, R. C., Storvick, D., Leppert, M.
|
|
<strong>Linkage of atypical myotonia congenita to a sodium channel locus.</strong>
|
|
Neurology 42: 431-433, 1992.
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[PubMed: 1310531]
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[Full Text: https://doi.org/10.1212/wnl.42.2.431]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ricker, K., Moxley, R. T., III, Heine, R., Lehmann-Horn, F.
|
|
<strong>Myotonia fluctuans: a third type of muscle sodium channel disease.</strong>
|
|
Arch. Neurol. 51: 1095-1102, 1994.
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[PubMed: 7980103]
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[Full Text: https://doi.org/10.1001/archneur.1994.00540230033009]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Rudel, R., Lehmann-Horn, F.
|
|
<strong>Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995.</strong>
|
|
Neuromusc. Disord. 7: 127-132, 1997.
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|
|
[PubMed: 9131654]
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[Full Text: https://doi.org/10.1016/s0960-8966(96)00418-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Trudell, R. G., Kaiser, K. K., Griggs, R. C.
|
|
<strong>Acetazolamide responsive myotonia congenita.</strong>
|
|
Neurology 37: 488-491, 1987.
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|
[PubMed: 3822145]
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[Full Text: https://doi.org/10.1212/wnl.37.3.488]
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</p>
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</li>
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</ol>
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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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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Cassandra L. Kniffin - updated : 10/20/2010<br>Cassandra L. Kniffin - updated : 10/27/2009<br>Cassandra L. Kniffin - updated : 12/3/2008<br>Cassandra L. Kniffin - updated : 10/24/2008<br>Cassandra L. Kniffin - updated : 6/29/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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