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Entry
- #302800 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1
- OMIM
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<span class="h4">#302800</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/302800"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS118220"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14786&Typ=Pat" title="X-linked Charcot-Marie-Tooth disease type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked Charcot-Marie-Too…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1433&Typ=Pat" title="X-linked progressive cerebellar ataxia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked progressive cereb…&nbsp;</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1358/" title="Charcot-Marie-Tooth Hereditary Neuropathy Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Charcot-Marie-Tooth Heredi…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1374/" title="GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">GJB1 Disorders: Charcot-Ma…</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1311" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=302800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#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;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101075" title="X-linked Charcot-Marie-Tooth disease type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked Charcot-Marie-Too…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1175" title="X-linked progressive cerebellar ataxia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked progressive cereb…</a></div>
</div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110209" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/302800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:302800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 763455008<br />
<strong>ORPHA:</strong> 101075, 1175<br />
<strong>DO:</strong> 0110209<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
302800
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CMTX<br />
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED<br />
HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED<br />
HMSN, X-LINKED<br />
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1<br />
CMT2, FORMERLY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/406?start=-3&limit=10&highlight=406">
Xq13.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302800"> 302800 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
GJB1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304040"> 304040 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/302800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS118220" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/302800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/302800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sensorineural hearing loss (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nystagmus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Achilles tendon contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203076007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203076007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410264</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Muscle biopsy showed neurogenic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845361</a>]</span><br /> -
Fiber size variation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837325</a>]</span><br /> -
Type 1 fiber predominance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673678</a>]</span><br /> -
Distal muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Central nervous system involvement (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4050309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4050309</a>]</span><br /> -
Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
Transient, reversible neurologic deficits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844877</a>]</span><br /> -
Paraparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1845001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1845001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G82.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G82.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221166</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002385</a>]</span><br /> -
Monoparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79520009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79520009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270795</a>]</span><br /> -
Numbness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59073000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59073000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397974008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397974008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44077006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44077006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020580</a>, <a href="https://bioportal.bioontology.org/search?q=C0028643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028643</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033748</a>]</span><br /> -
Motor aphasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229654003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229654003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/328681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">328681008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002427</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002427</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
Spinocerebellar ataxia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129609000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129609000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0087012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0087012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007263</a>]</span><br /> -
Limb incoordination (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/281016006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">281016006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302289002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302289002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0520966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520966</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002311</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002311</a>]</span><br /> -
Dysmetria (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
Pyramidal signs (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
Hyperreflexia in the lower limbs (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002395</a>]</span><br /> -
Extensor plantar responses (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
Cerebellar atrophy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br /> -
White matter abnormalities seen on MRI which resolve over time <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806759&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806759</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Distal limb muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span><br /> -
Distal limb muscle atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
Gait disturbance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
Toe-walking <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250018006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250018006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427144</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030051</a>]</span><br /> -
Difficulty walking on heels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551015</a>]</span><br /> -
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
Distal sensory impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br /> -
Reduced motor nerve conduction velocity (NCV) (range less than 38 m/s to normal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844879</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003431</a>]</span><br /> -
Normal NCV <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551016</a>]</span><br /> -
Loss of myelinated fibers seen on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003380</a>]</span><br /> -
Axonal degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837496</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040078</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040078</a>]</span><br /> -
Regenerative nerve sprouting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806761</a>]</span><br /> -
Thin myelin sheaths <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843178</a>]</span><br /> -
Onion bulb formations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847906</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003383</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003383</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in childhood<br /> -
Usually begins in feet and legs (peroneal distribution)<br /> -
Upper limb involvement occurs later <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843162</a>]</span><br /> -
Both demyelinating and axonal features<br /> -
Slow progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
Heterozygous females more mildly affected than hemizygous males<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the connexin-32 gene (GJB1, <a href="/entry/304040#0001">304040.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Charcot-Marie-Tooth disease
- <a href="/phenotypicSeries/PS118220">PS118220</a>
- 82 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/100?start=-3&limit=10&highlight=100"> 1p36.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> Charcot-Marie-Tooth disease, recessive intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> 615376 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> PLEKHG5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> 611101 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/135?start=-3&limit=10&highlight=135"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> Charcot-Marie-Tooth disease, type 2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> 118210 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> KIF1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> 605995 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> Hereditary motor and sensory neuropathy VIA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> 601152 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> Charcot-Marie-Tooth disease, axonal, type 2A2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> 617087 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> Charcot-Marie-Tooth disease, axonal, type 2A2A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> 609260 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/406?start=-3&limit=10&highlight=406"> 1p35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> Charcot-Marie-Tooth disease, dominant intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> 608323 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> YARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> 603623 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/954?start=-3&limit=10&highlight=954"> 1p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> Charcot-Marie-Tooth disease, axonal, type 2DD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> 618036 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> ATP1A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> 182310 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> Charcot-Marie-Tooth disease, type 2B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> 605588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> LMNA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1292?start=-3&limit=10&highlight=1292"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> Charcot-Marie-Tooth disease, axonal, type 2FF </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> 619519 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> CADM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> 609743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> Charcot-Marie-Tooth disease, type 2I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> 607677 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> Charcot-Marie-Tooth disease, type 1B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> 118200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> Charcot-Marie-Tooth disease, dominant intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> 607791 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> Charcot-Marie-Tooth disease, type 2J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> 607736 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/131?start=-3&limit=10&highlight=131"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> Charcot-Marie-Tooth disease, axonal, type 2EE </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> 618400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> MPV17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> 137960 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/654?start=-3&limit=10&highlight=654"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> Charcot-Marie-Tooth disease, type 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> 600882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> RAB7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> 602298 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/798?start=-3&limit=10&highlight=798"> 3q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> Charcot-Marie-Tooth disease, axonal, type 2T </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> 617017 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> MME </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> 120520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/880?start=-3&limit=10&highlight=880"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> Charcot-Marie-Tooth disease, dominant intermediate F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> 615185 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> GNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> 610863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/611?start=-3&limit=10&highlight=611"> 4q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> Charcot-Marie-Tooth disease, type 2R </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> 615490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> TRIM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> 614141 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> Charcot-Marie-Tooth disease, axonal, type 2W </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> 616625 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> HARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> 142810 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/646?start=-3&limit=10&highlight=646"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> Charcot-Marie-Tooth disease, type 4C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> 601596 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> SH3TC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> 608206 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/405?start=-3&limit=10&highlight=405"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> Charcot-Marie-Tooth disease, demyelinating, type 1J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> 620111 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> ITPR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> 147267 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/769?start=-3&limit=10&highlight=769"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> Charcot-Marie-Tooth disease, type 4J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> 611228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> FIG4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> 609390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/165?start=-3&limit=10&highlight=165"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> Charcot-Marie-Tooth disease, type 2D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> 601472 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> GARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> 600287 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/355?start=-3&limit=10&highlight=355"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> Charcot-Marie-Tooth disease, axonal, type 2F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> 606595 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> HSPB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> 602195 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> Charcot-Marie-Tooth disease, type 1F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> 607734 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> Charcot-Marie-Tooth disease, dominant intermediate G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> 617882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> Charcot-Marie-Tooth disease, type 2E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> 607684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/304?start=-3&limit=10&highlight=304"> 8q13-q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> Charcot-Marie-Tooth disease, axonal, type 2H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> CMT2H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/350?start=-3&limit=10&highlight=350"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> JPH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> 605266 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> Charcot-Marie-Tooth disease, axonal, type 2K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> Charcot-Marie-Tooth disease, type 4A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> 214400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> Charcot-Marie-Tooth disease, recessive intermediate, A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> 608340 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> Charcot-Marie-Tooth disease, axonal, with vocal cord paresis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> 607706 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/366?start=-3&limit=10&highlight=366"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> Charcot-Marie-Tooth disease, demyelinating, type 1G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> 618279 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> PMP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> 170715 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/570?start=-3&limit=10&highlight=570"> 8q24.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> Charcot-Marie-Tooth disease, type 4D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> 601455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> NDRG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> 605262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/160?start=-3&limit=10&highlight=160"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> Charcot-Marie-Tooth disease, type 2Y </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> 616687 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> VCP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> 601023 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/512?start=-3&limit=10&highlight=512"> 9q33.3-q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> Charcot-Marie-Tooth disease, axonal, type 2P </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> 614436 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> LRSAM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> 610933 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/612?start=-3&limit=10&highlight=612"> 9q34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> Charcot-Marie-Tooth disease, type 4K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> 616684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> SURF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> 185620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/53?start=-3&limit=10&highlight=53"> 10p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> ?Charcot-Marie-Tooth disease, axonal, type 2Q </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> 615025 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> DHTKD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> 614984 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> Charcot-Marie-Tooth disease, type 1D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> 607678 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> Hypomyelinating neuropathy, congenital, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> 605253 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> Neuropathy, hereditary motor and sensory, Russe type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> 605285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> HK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> 142600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/513?start=-3&limit=10&highlight=513"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> Charcot-Marie-Tooth disease, axonal, type 2GG </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> 606483 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> GBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> 603698 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> Charcot-Marie-Tooth disease, axonal, type 2JJ </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> 621095 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/171?start=-3&limit=10&highlight=171"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> Charcot-Marie-Tooth disease, type 4B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> 604563 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> SBF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> 607697 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/690?start=-3&limit=10&highlight=690"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> Charcot-Marie-Tooth disease, axonal, type 2S </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> 616155 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> IGHMBP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> 600502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/849?start=-3&limit=10&highlight=849"> 11q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> Charcot-Marie-Tooth disease, type 4B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> 601382 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> MTMR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> 603557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/278?start=-3&limit=10&highlight=278"> 12p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> Charcot-Marie-Tooth disease, type 4H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> 609311 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> FGD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> 611104 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> Charcot-Marie-Tooth disease, axonal, type 2U </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> 616280 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> MARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> 156560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/757?start=-3&limit=10&highlight=757"> 12q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> Charcot-Marie-Tooth disease, demyelinating, type 1I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> 619742 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> POLR3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> 614366 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> Hereditary motor and sensory neuropathy, type IIc </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> 606071 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> TRPV4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> Charcot-Marie-Tooth disease, axonal, type 2L </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> 608673 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/873?start=-3&limit=10&highlight=873"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> Charcot-Marie-Tooth disease, recessive intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> 616039 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> COX6A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> 602072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> Charcot-Marie-Tooth disease, demyelinating, type 1H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> 619764 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> FBLN5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> 604580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/559?start=-3&limit=10&highlight=559"> 14q32.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> Charcot-Marie-Tooth disease, axonal, type 2O </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> 614228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> DYNC1H1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> 600112 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/590?start=-3&limit=10&highlight=590"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> Charcot-Marie-Tooth disease, dominant intermediate E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> 614455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> INF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> 610982 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/71?start=-3&limit=10&highlight=71"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> Charcot-Marie-Tooth disease, axonal, type 2II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> 620068 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> SLC12A6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> 604878 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> Charcot-Marie-Tooth disease, axonal, type 2X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> 616668 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> SPG11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> 610844 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/195?start=-3&limit=10&highlight=195"> 16p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> Charcot-Marie-Tooth disease, type 1C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> 601098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> LITAF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> 603795 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/603?start=-3&limit=10&highlight=603"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> Charcot-Marie-Tooth disease, axonal, type 2N </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> 613287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> AARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> 601065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/655?start=-3&limit=10&highlight=655"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> ?Charcot-Marie-Tooth disease, recessive intermediate, B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> 613641 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> KARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> 601421 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> Charcot-Marie-Tooth disease, type 1E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> 118300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> Charcot-Marie-Tooth disease, type 1A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> 118220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> ?Charcot-Marie-Tooth disease, axonal, type 2V </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> 616491 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> NAGLU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> 609701 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, dominant intermediate B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, axonal type 2M </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> Charcot-Marie-Tooth disease, type 4F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> 614895 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/967?start=-3&limit=10&highlight=967"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> ?Charcot-Marie-Tooth disease, type 2B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> 605589 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> PNKP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> 605610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/99?start=-3&limit=10&highlight=99"> 20p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> Charcot-Marie-Tooth disease, axonal, type 2HH </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> 619574 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> JAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> 601920 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> Charcot-Marie-Tooth disease, axonal, type 2CC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> 616924 </a>
</span>
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<span class="mim-font">
<a href="/entry/162230"> NEFH </a>
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<a href="/entry/162230"> 162230 </a>
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<span class="mim-font">
<a href="/geneMap/22/177?start=-3&limit=10&highlight=177"> 22q12.2 </a>
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<span class="mim-font">
<a href="/entry/616688"> Charcot-Marie-Tooth disease, axonal, type 2Z </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/616688"> 616688 </a>
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<a href="/entry/616661"> MORC2 </a>
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<span class="mim-font">
<a href="/entry/616661"> 616661 </a>
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<span class="mim-font">
<a href="/geneMap/22/412?start=-3&limit=10&highlight=412"> 22q13.33 </a>
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<span class="mim-font">
<a href="/entry/615284"> Charcot-Marie-Tooth disease, type 4B3 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/615284"> 615284 </a>
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<span class="mim-font">
<a href="/entry/603560"> SBF1 </a>
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<span class="mim-font">
<a href="/entry/603560"> 603560 </a>
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<span class="mim-font">
<a href="/geneMap/X/47?start=-3&limit=10&highlight=47"> Xp22.2 </a>
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<span class="mim-font">
<a href="/entry/302801"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/302801"> 302801 </a>
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<a href="/entry/302801"> CMTX2 </a>
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<a href="/entry/302801"> 302801 </a>
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<a href="/geneMap/X/126?start=-3&limit=10&highlight=126"> Xp22.11 </a>
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<span class="mim-font">
<a href="/entry/300905"> ?Charcot-Marie-Tooth disease, X-linked dominant, 6 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300905"> 300905 </a>
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<a href="/entry/300906"> PDK3 </a>
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<span class="mim-font">
<a href="/entry/300906"> 300906 </a>
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<span class="mim-font">
<a href="/geneMap/X/406?start=-3&limit=10&highlight=406"> Xq13.1 </a>
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<span class="mim-font">
<a href="/entry/302800"> Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/302800"> 302800 </a>
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<span class="mim-font">
<a href="/entry/304040"> GJB1 </a>
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<span class="mim-font">
<a href="/entry/304040"> 304040 </a>
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</tr>
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<span class="mim-font">
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
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<span class="mim-font">
<a href="/entry/311070"> Charcot-Marie-Tooth disease, X-linked recessive, 5 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/311070"> 311070 </a>
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<span class="mim-font">
<a href="/entry/311850"> PRPS1 </a>
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<span class="mim-font">
<a href="/entry/311850"> 311850 </a>
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<span class="mim-font">
<a href="/geneMap/X/662?start=-3&limit=10&highlight=662"> Xq26 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/302802"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
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<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
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<span class="mim-font">
<a href="/entry/302802"> CMTX3 </a>
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<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
</span>
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</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/X/675?start=-3&limit=10&highlight=675"> Xq26.1 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/310490"> Cowchock syndrome </a>
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</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
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<span class="mim-font">
<a href="/entry/310490"> 310490 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/300169"> AIFM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300169"> 300169 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked dominant Charcot-Marie-Tooth disease-1 (CMTX1) is caused by hemizygous or heterozygous mutation in the GJB1 gene (<a href="/entry/304040">304040</a>) on chromosome Xq13.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1) and primary peripheral axonal (type 2) neuropathies. The demyelinating neuropathies classified as CMT type 1, also known as HMSN I, are characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy (see CMT1B; <a href="/entry/118200">118200</a>). The axonal neuropathies classified as CMT type 2, also known as HMSN II, are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; <a href="/entry/118210">118210</a>). Distal hereditary motor neuropathy (dHMN) (see <a href="/entry/158590">158590</a>) is a spinal type of CMT characterized by exclusive motor involvement and sparing of sensory nerves (<a href="#40" class="mim-tip-reference" title="Pareyson, D. &lt;strong&gt;Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.&lt;/strong&gt; Muscle Nerve 22: 1498-1509, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10514227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10514227&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-4598(199911)22:11&lt;1498::aid-mus4&gt;3.0.co;2-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10514227">Pareyson, 1999</a>). There are X-linked, autosomal dominant (see <a href="/entry/118200">118200</a>), and autosomal recessive (see <a href="/entry/214400">214400</a>) forms of CMT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10514227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The form of Charcot-Marie-Tooth neuropathy that maps to chromosome Xq13 (CMTX1) is X-linked dominant or X-linked intermediate; heterozygous females are more mildly affected than are hemizygous males.</p><p><strong><em>Genetic Heterogeneity of X-linked Charcot-Marie-Tooth Disease</em></strong></p><p>
<a href="#29" class="mim-tip-reference" title="Ionasescu, V. V., Trofatter, J., Haines, J. L., Summers, A. M., Ionasescu, R., Searby, C. &lt;strong&gt;Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.&lt;/strong&gt; Am. J. Hum. Genet. 48: 1075-1083, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1674639/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1674639&lt;/a&gt;]" pmid="1674639">Ionasescu et al. (1991)</a> presented data suggesting the existence of an X-linked recessive CMT disease on Xp22.2 (CMTX2; <a href="/entry/302801">302801</a>). CMTX3 is caused by a genomic rearrangement between chromosomes 8q24.3 and Xq27.1. Cowchock syndrome (<a href="/entry/310490">310490</a>), which maps to chromosome Xq26, is also referred to as CMTX4. CMTX5 (<a href="/entry/311070">311070</a>) is caused by mutation in the PRPS1 gene (<a href="/entry/311850">311850</a>) on chromosome Xq22. CMTX6 (<a href="/entry/300905">300905</a>) is caused by mutation in the PDK3 gene (<a href="/entry/300906">300906</a>) on Xp22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674639" 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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<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p>CMTX has both demyelinating and axonal features (<a href="#7" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. &lt;strong&gt;Connexin mutations in X-linked Charcot-Marie-Tooth disease.&lt;/strong&gt; Science 262: 2039-2042, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8266101/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8266101&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.8266101&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8266101">Bergoffen et al., 1993</a>, <a href="#24" class="mim-tip-reference" title="Hahn, A. F., Brown, W. F., Koopman, W. J., Feasby, T. E. &lt;strong&gt;X-linked dominant hereditary motor and sensory neuropathy.&lt;/strong&gt; Brain 113: 1511-1525, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2245309/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2245309&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/113.5.1511&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2245309">Hahn et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2245309+8266101" 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="#41" class="mim-tip-reference" title="Phillips, L. H., II, Kelly, T. E., Schnatterly, P., Parker, D. &lt;strong&gt;Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance.&lt;/strong&gt; Neurology 35: 498-502, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3856757/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3856757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.35.4.498&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3856757">Phillips et al. (1985)</a> described a large family with a pattern of X-linked dominant inheritance. Clinically and electrophysiologically, the phenotype was similar to HMSN of the 'intermediate' type, in accordance with the Allan rule (<a href="#2" class="mim-tip-reference" title="Allan, W. &lt;strong&gt;Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.&lt;/strong&gt; Arch. Intern. Med. 63: 1123-1131, 1939."None>Allan, 1939</a>). Men were more severely affected than women, with very slow nerve conduction velocities. NCVs were mildly slow or normal in women. Hypertrophic nerves were not found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3856757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Hahn, A. F., Brown, W. F., Koopman, W. J., Feasby, T. E. &lt;strong&gt;X-linked dominant hereditary motor and sensory neuropathy.&lt;/strong&gt; Brain 113: 1511-1525, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2245309/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2245309&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/113.5.1511&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2245309">Hahn et al. (1990)</a> reported clinical, neuropathologic, and electrophysiologic observations on a French Canadian family with HMSN transmitted as an X-linked dominant disorder over 6 generations. The disorder was characterized by onset in early childhood, pes cavus, atrophy and weakness of peroneal muscles and intrinsic hand muscles, and sensory abnormalities. Males were severely affected, whereas females had mild or subclinical disease. Electrophysiologic observations indicated a substantial loss of distal motor and sensory nerve fibers. Evoked muscle action potentials were absent or severely reduced and peroneal motor nerve conduction velocities were mildly reduced to a mean of 36.5 m/s. Nerve biopsies showed loss of myelinated and unmyelinated nerve fibers, regenerative sprouting, and secondary demyelination. The authors concluded that this form of HMSN is the result of primary axonal degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2245309" 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="#16" class="mim-tip-reference" title="Fain, P. R., Barker, D. F., Chance, P. F. &lt;strong&gt;Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.&lt;/strong&gt; Am. J. Hum. Genet. 54: 229-235, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8304339/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8304339&lt;/a&gt;]" pmid="8304339">Fain et al. (1994)</a> examined 52 affected individuals from 4 multigenerational kindreds. All affected males had distal muscle weakness, atrophy, depressed deep tendon reflexes, and motor NCV less than 38 m/s. All females who were considered affected had mild distal muscle weakness, hypoactive reflexes, and NCV less than 38 m/s, consistent with a demyelinating neuropathy. The majority of affected females showed significant weakness beyond the fourth decade. Variable pes cavus deformity and variable degree of sensory loss were present in both affected males and females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304339" 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="#34" class="mim-tip-reference" title="Le Guern, E., Ravise, N., Gugenheim, M., Vignal, A., Penet, C., Bouche, P., Weissenbach, J., Agid, Y., Brice, A. &lt;strong&gt;Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.&lt;/strong&gt; Neuromusc. Disord. 4: 463-469, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7881290/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7881290&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0960-8966(94)90085-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7881290">Le Guern et al. (1994)</a> reported a large family with X-linked dominant Charcot-Marie-Tooth disease. There were 7 affected males with NCV between 31 and 35 m/s in the median nerve and 12 affected females with NCV ranging from 31 to 52 m/s in the median nerve. Four of the women were asymptomatic but demonstrated electrophysiologic abnormalities. No male-to-male transmission was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881290" 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="Birouk, N., LeGuern, E., Maisonobe, T., Rouger, H., Gouider, R., Tardieu, S., Gugenheim, M., Routon, M. C., Leger, J. M., Agid, Y., Brice, A., Bouche, P. &lt;strong&gt;X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.&lt;/strong&gt; Neurology 50: 1074-1082, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9566397/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9566397&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.50.4.1074&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9566397">Birouk et al. (1998)</a> examined 48 CMTX patients from 10 families with CMTX1, confirmed by mutation analysis. Males were more severely affected than females, although 6 females were severely disabled. Motor NCV ranged from 30 to 40 m/s in males. Sural nerve biopsies showed axonal neuropathy. The authors concluded that this was an axonal neuropathy rather than a demyelinating disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9566397" 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="#52" class="mim-tip-reference" title="Yiu, E. M., Geevasinga, N., Nicholson, G. A., Fagan, E. R., Ryan, M. M., Ouvrier, R. A. &lt;strong&gt;A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.&lt;/strong&gt; Neurology 76: 461-466, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21282593/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21282593&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e31820a0ceb&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21282593">Yiu et al. (2011)</a> provided a retrospective review of 17 children with X-linked CMT, 8 of whom (6 boys and 2 girls) had proven pathogenic mutations in the GJB1 gene. Most children with CMTX1 presented in infancy or early childhood with gait disturbances, although 3 presented with atypical features: a boy with hand tremor at age 12 years, a girl with sensorineural hearing loss at age 3 years, and a boy with transient CNS disturbance after hyperventilation at age 10 years, although in retrospect he had always walked flat-footed. Clinical features included toe walking (3 of 8), Achilles contractures (5), delayed motor development (3), frequent falls (4), hand weakness (2), hand tremor (3), and ankle sprains (2). Physical examination findings included pes cavus (5 of 8), distal lower limb wasting (4), distal upper limb wasting (5), difficulty walking on heels (6), distal lower limb weakness (6), distal upper limb weakness (3), absent ankle jerks (7), and distal sensory loss (3). Nerve conduction velocity studies in 3 boys ranged from 30 to 50 m/s and in 1 girl ranged from 41 to 46 m/s. The girl who presented with hearing loss had no other neurologic abnormalities. Two patients had sural nerve biopsies showing a reduction in myelinated nerve fiber density, thin myelin sheaths, and onion bulb formations. Muscle biopsy from 1 patient showed neurogenic changes with marked fiber size variation and type 1 fiber predominance. Five obligate carrier mothers had an abnormal neurologic examination, with distal upper and lower limb wasting and weakness with foot deformities. One girl and an unrelated carrier mother had recurrent pathologic fractures, an unusual feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21282593" 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>Clinical Variability</em></strong></p><p>
<a href="#47" class="mim-tip-reference" title="Spira, P. J., McLeod, J. G., Evans, W. A. &lt;strong&gt;A spinocerebellar degeneration with X-linked inheritance.&lt;/strong&gt; Brain 102: 27-41, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/427531/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;427531&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/102.1.27&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="427531">Spira et al. (1979)</a> reported a family originating from South Australia with X-linked recessive inheritance of spinocerebellar degeneration in 10 males. Age at onset of ataxia was in the first or second decade, with the 2 oldest patients becoming wheelchair-bound as young adults. Cerebellar features included gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, and nystagmus. Other features included pes cavus, scoliosis, hyperreflexia with absent ankle reflexes, extensor plantar responses, and muscle atrophy. Decreased distal position and vibration sense were noted only in the 2 oldest patients. Motor nerve conduction velocities were decreased and sensory nerve conduction studies showed increased latency and decreased amplitude. Sural nerve biopsy showed marked reduction in the density of large diameter fibers. Postmortem findings of 1 patient showed extensive loss of cerebellar Purkinje cells, loss of neurons and myelin from the inferior olives, and loss of myelin from the spinocerebellar tracts, posterior columns, and corticospinal tracts. Intelligence was unaffected. <a href="#10" class="mim-tip-reference" title="Caramins, M., Colebatch, J. G., Bainbridge, M. N., Scherer, S. S., Abrams, C. K., Hackett, E. L., Freidin, M. M., Jhangiani, S. N., Wang, M., Wu, Y., Muzny, D. M., Lindeman, R., Gibbs, R. A. &lt;strong&gt;Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).&lt;/strong&gt; Hum. Molec. Genet. 22: 4329-4338, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23773993/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23773993&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23773993[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddt282&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23773993">Caramins et al. (2013)</a> reported follow-up of the family studied by <a href="#47" class="mim-tip-reference" title="Spira, P. J., McLeod, J. G., Evans, W. A. &lt;strong&gt;A spinocerebellar degeneration with X-linked inheritance.&lt;/strong&gt; Brain 102: 27-41, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/427531/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;427531&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/102.1.27&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="427531">Spira et al. (1979)</a>. Physical examination of 4 available affected males revealed a consistent phenotype with cerebellar signs, pyramidal features, and signs of a sensorimotor neuropathy, which was confirmed by electrophysiologic studies. Brain MRI of 1 patient showed cerebellar and spinal cord atrophy. A 67-year-old asymptomatic obligate female carrier who was examined showed minor heel-shin ataxia, gait impairment, and absent ankle jerks. Exome sequencing revealed a missense mutation in the GJB1 gene (P58S; <a href="/entry/304040#0022">304040.0022</a>) that segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=427531+23773993" 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>Central Nervous System Involvement</em></strong></p><p>
There are reports of CNS involvement in CMTX1 with (<a href="#39" class="mim-tip-reference" title="Panas, M., Karadimas, C., Avramopoulos, D., Vassilopoulos, D. &lt;strong&gt;Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations. (Letter)&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 65: 947-948, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9854984/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9854984&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.65.6.947a&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9854984">Panas et al., 1998</a>; <a href="#35" class="mim-tip-reference" title="Marques, W., Jr., Sweeney, M. G., Wood, N. W., Wroe, S. J., Marques, W. &lt;strong&gt;Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. (Letter)&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 66: 803-804, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10400511/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10400511&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.66.6.803&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10400511">Marques et al., 1999</a>) and without (<a href="#48" class="mim-tip-reference" title="Stojkovic, T., Latour, P., Vandenberghe, A., Hurtevent, J. F., Vermersch, P. &lt;strong&gt;Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q).&lt;/strong&gt; Neurology 52: 1010-1014, 1999. Note: Erratum: Neurology 52: 1952 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10102421/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10102421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.52.5.1010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10102421">Stojkovic et al., 1999</a>; <a href="#38" class="mim-tip-reference" title="Nicholson, G. A., Yeung, L., Corbett, A. &lt;strong&gt;Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.&lt;/strong&gt; Neurology 51: 1412-1416, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9818870/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9818870&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.51.5.1412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9818870">Nicholson et al., 1998</a>) cerebral abnormalities on MRI. <a href="#43" class="mim-tip-reference" title="Schelhaas, H. J., van Engelen, B. G. M., Gabreels-Festen, A. A. W. M., Hageman, G., Vliegen, J. H. R., van der Knaap, M. S., Zwarts, M. J. &lt;strong&gt;Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.&lt;/strong&gt; Neurology 59: 2007-2008, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12499506/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12499506&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000038390.29853.46&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12499506">Schelhaas et al. (2002)</a> presented a 14-year-old boy with CMTX1 who developed subacute respiratory distress and a pseudobulbar syndrome after an episode of fever. MRI of the brain showed confluent cerebral white matter lesions. The clinical features and cerebral white matter lesions in this patient resolved spontaneously. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10102421+12499506+9854984+10400511+9818870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Hanemann, C. O., Bergmann, C., Senderek, J., Zerres, K., Sperfeld, A.-D. &lt;strong&gt;Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.&lt;/strong&gt; Arch. Neurol. 60: 605-609, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12707076/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12707076&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.60.4.605&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12707076">Hanemann et al. (2003)</a> reported a family in which 3 members were affected with X-linked CMT. In addition to classic CMT clinical findings, all 3 patients had transient CNS symptoms correlating with transient and reversible white matter lesions on MRI. CNS symptoms included paraparesis, monoparesis, tetraparesis, dysarthria, aphasia, and cranial nerve palsies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707076" 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="#50" class="mim-tip-reference" title="Taylor, R. A., Simon, E. M., Marks, H. G., Scherer, S. S. &lt;strong&gt;The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.&lt;/strong&gt; Neurology 61: 1475-1478, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14663027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14663027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000095960.48964.25&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14663027">Taylor et al. (2003)</a> reported a 12-year-old boy with X-linked CMT who had 3 consecutive episodes of transient neurologic dysfunction over the course of 3 days, with complete recovery between each episode. Deficits included numbness of the face, paresis of the face and limbs, dysarthria, complete motor aphasia, and loss of gag reflex. MRI showed abnormal signals in the posterior frontal and parietal white matter, which improved 11 weeks later. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663027" 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="#27" class="mim-tip-reference" title="Herringham, W. P. &lt;strong&gt;Muscular atrophy of the peroneal type affecting many members of a family.&lt;/strong&gt; Brain 11: 230-236, 1889."None>Herringham (1889)</a> reported a family with 20 affected males in 4 generations. <a href="#15" class="mim-tip-reference" title="Erwin, W. G. &lt;strong&gt;A pedigree of sex-linked recessive peroneal atrophy.&lt;/strong&gt; J. Hered. 35: 24-26, 1944."None>Erwin (1944)</a> observed 7 cases of sex-linked recessive inheritance in 5 generations. <a href="#51" class="mim-tip-reference" title="Woratz, G. &lt;strong&gt;Neurale Muskelatrophie mit dominantem X-chromosomalem Erbgang.&lt;/strong&gt; Berlin: Akademie-Verlag (pub.) 1964."None>Woratz (1964)</a> (cited by <a href="#3" class="mim-tip-reference" title="Becker, P. E. &lt;strong&gt;Humangenetik; ein kurzes Handbuch. Vol. 5. Part 1.&lt;/strong&gt; Stuttgart: Thieme (pub.) 1966. P. 427."None>Becker, 1966</a>) studied a family in which X-linked dominant inheritance was present. A large number of persons in 6 generations were affected. Ten affected fathers had only affected daughters (15) and only normal sons (8), whereas 26 affected mothers had affected sons (23) and affected daughters (21) as well as unaffected offspring. Males were more severely affected than females.</p><p>The large kindred reported by <a href="#21" class="mim-tip-reference" title="Gal, A., Mucke, J., Theile, H., Wieacker, P. F., Ropers, H.-H., Wienker, T. F. &lt;strong&gt;X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.&lt;/strong&gt; Hum. Genet. 70: 38-42, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2987105/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2987105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00389456&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2987105">Gal et al. (1985)</a> was said to follow complete X-linked dominant inheritance, whereas the large family described by <a href="#23" class="mim-tip-reference" title="Goonewardena, P., Welihinda, J., Anvret, M., Gyftodimou, J., Haegermark, A., Iselius, L., Lindsten, J., Pettersson, U. &lt;strong&gt;A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.&lt;/strong&gt; Clin. Genet. 33: 435-440, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2901924/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2901924&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb03477.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2901924">Goonewardena et al. (1988)</a> showed X-linked incomplete dominant inheritance, with variable expression among daughters of affected males or carrier females. <a href="#8" class="mim-tip-reference" title="Bergoffen, J., Trofatter, J., Pericak-Vance, M. A., Haines, J. L., Chance, P. F., Fischbeck, K. H. &lt;strong&gt;Linkage localization of X-linked Charcot-Marie-Tooth disease.&lt;/strong&gt; Am. J. Hum. Genet. 52: 312-318, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8430694/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8430694&lt;/a&gt;]" pmid="8430694">Bergoffen et al. (1993)</a> noted that this form of CMT is an X-linked dominant condition with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2901924+2987105+8430694" 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="#36" class="mim-tip-reference" title="Montenegro, G., Powell, E., Huang, J., Speziani, F., Edwards, Y. J. K., Beecham, G., Hulme, W., Siskind, C., Vance, J., Shy, M., Zuchner, S. &lt;strong&gt;Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.&lt;/strong&gt; Ann. Neurol. 69: 464-470, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21254193/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21254193&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21254193[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.22235&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21254193">Montenegro et al. (2011)</a> reported the use of exome sequencing to identify a mutation in the GJB1 gene (V95M; <a href="/entry/304040#0011">304040.0011</a>) in affected members of a large family with Charcot-Marie-Tooth disease and a questionable inheritance pattern. Affected individuals had classic features of the disease, with onset between ages 14 and 40 years of distal sensory impairment and muscle weakness and atrophy affecting the upper and lower limbs. Nerve conduction velocities were in the intermediate range. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21254193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="de Weerdt, C. J., Daniels, G. L., Tippett, P. &lt;strong&gt;Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups.&lt;/strong&gt; J. Med. Genet. 13: 399, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1003451/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1003451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.13.5.399&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1003451">De Weerdt et al. (1976)</a> excluded close linkage of X-linked CMT to the Xg locus. A large pedigree was reported by <a href="#30" class="mim-tip-reference" title="Iselius, L., Grimby, L. &lt;strong&gt;A family with Charcot-Marie-Tooth&#x27;s disease, showing a probable X-linked incompletely dominant inheritance.&lt;/strong&gt; Hereditas 97: 157-158, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6890052/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6890052&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1601-5223.1982.tb00723.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6890052">Iselius and Grimby (1982)</a>. Close linkage to colorblindness was excluded. In a restudy of the original family reported by <a href="#51" class="mim-tip-reference" title="Woratz, G. &lt;strong&gt;Neurale Muskelatrophie mit dominantem X-chromosomalem Erbgang.&lt;/strong&gt; Berlin: Akademie-Verlag (pub.) 1964."None>Woratz (1964)</a>, an exceptionally extensive pedigree, <a href="#21" class="mim-tip-reference" title="Gal, A., Mucke, J., Theile, H., Wieacker, P. F., Ropers, H.-H., Wienker, T. F. &lt;strong&gt;X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.&lt;/strong&gt; Hum. Genet. 70: 38-42, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2987105/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2987105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00389456&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2987105">Gal et al. (1985)</a> found a suggestion of close linkage with a polymorphic DNA probe, DXYS1 (pDp34), located on the proximal long arm of X (Xq13-q21). The lod score was 1.358 at 0.0 recombination. The regional assignment was confirmed through the work of Fischbeck et al. (<a href="#19" class="mim-tip-reference" title="Fischbeck, K. H., ar-Rushdi, N., Rozear, M., Pericak-Vance, M., Fryns, J. P. &lt;strong&gt;X-linked neuropathy: gene localization with DNA probes. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 37: A153, 1985."None>1985</a>, <a href="#18" class="mim-tip-reference" title="Fischbeck, K. H., ar-Rushdi, N., Pericak-Vance, M., Rozear, M., Roses, A. D., Fryns, J. P. &lt;strong&gt;X-linked neuropathy: gene localization with DNA probes.&lt;/strong&gt; Ann. Neurol. 20: 527-532, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3024556/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3024556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410200414&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3024556">1986</a>), who referred to the disorder as X-linked neuropathy, and that of Beckett et al. (<a href="#5" class="mim-tip-reference" title="Beckett, J., White, B. N., Simpson, N. E., Ebers, G. C., Holden, J., MacLeod, P. M. &lt;strong&gt;A linkage study using DNA markers localizes the gene for X-linked dominant Charcot-Marie-Tooth disease at Xq13-Xq22. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 40: 579, 1985."None>1985</a>, <a href="#4" class="mim-tip-reference" title="Beckett, J., Holden, J. J. A., Simpson, N. E., White, B. N., MacLeod, P. M. &lt;strong&gt;Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT2) to Xq13.&lt;/strong&gt; J. Neurogenet. 3: 225-231, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3462379/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3462379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/01677068609106852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3462379">1986</a>) linking it to DXYS1. Beckett et al. (<a href="#5" class="mim-tip-reference" title="Beckett, J., White, B. N., Simpson, N. E., Ebers, G. C., Holden, J., MacLeod, P. M. &lt;strong&gt;A linkage study using DNA markers localizes the gene for X-linked dominant Charcot-Marie-Tooth disease at Xq13-Xq22. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 40: 579, 1985."None>1985</a>, <a href="#4" class="mim-tip-reference" title="Beckett, J., Holden, J. J. A., Simpson, N. E., White, B. N., MacLeod, P. M. &lt;strong&gt;Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT2) to Xq13.&lt;/strong&gt; J. Neurogenet. 3: 225-231, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3462379/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3462379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/01677068609106852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3462379">1986</a>) suggested that CMTX1 (and DXYS1) may be distal to PGK1 (<a href="/entry/311800">311800</a>) in band Xq13. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1003451+2987105+3024556+6890052+3462379" 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>Using DNA markers, <a href="#18" class="mim-tip-reference" title="Fischbeck, K. H., ar-Rushdi, N., Pericak-Vance, M., Rozear, M., Roses, A. D., Fryns, J. P. &lt;strong&gt;X-linked neuropathy: gene localization with DNA probes.&lt;/strong&gt; Ann. Neurol. 20: 527-532, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3024556/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3024556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410200414&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3024556">Fischbeck et al. (1986)</a> performed linkage studies in 4 families with X-linked neuropathy. In each case, they confirmed X-linkage as opposed to sex-limited expression of an autosomal dominant disorder. Furthermore, although there was considerable clinical interfamilial variability, the neuropathy gene in each family was located in the same region, near DXYS1 and the centromere of the X chromosome, so that these presumably represent either identical or allelic disorders. One of their families was of Italian ancestry living in Bucks County, Pennsylvania. Onset in this family was very early and progression gradual. Several of those affected had associated deafness (<a href="#12" class="mim-tip-reference" title="Cowchock, F. S., Duckett, S. W., Streletz, L. J., Graziani, L. J., Jackson, L. G. &lt;strong&gt;X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.&lt;/strong&gt; Am. J. Med. Genet. 20: 307-315, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3856385/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3856385&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320200214&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3856385">Cowchock et al., 1985</a>; <a href="#46" class="mim-tip-reference" title="Sladky, J. T., Brown, M. J. &lt;strong&gt;Infantile axonal polyneuropathy with X-linked inheritance. (Abstract)&lt;/strong&gt; Ann. Neurol. 16: 402, 1984."None>Sladky and Brown, 1984</a>); see <a href="/entry/310490">310490</a>. Their family 2 was originally described by <a href="#2" class="mim-tip-reference" title="Allan, W. &lt;strong&gt;Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.&lt;/strong&gt; Arch. Intern. Med. 63: 1123-1131, 1939."None>Allan (1939)</a> and thus has great historical interest; the family had been restudied by <a href="#42" class="mim-tip-reference" title="Rozear, M. P., Pericak-Vance, M. A., Fischbeck, K., Stajich, J. M., Gaskell, P. C., Jr., Krendel, D. A., Graham, D. G., Dawson, D. V., Roses, A. D. &lt;strong&gt;Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.&lt;/strong&gt; Neurology 37: 1460-1465, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3476859/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3476859&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.37.9.1460&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3476859">Rozear et al. (1987)</a>. The third family was that described by <a href="#20" class="mim-tip-reference" title="Fryns, J. P., Van den Berghe, H. &lt;strong&gt;Sex-linked recessive inheritance in Charcot-Marie-Tooth disease with partial manifestation in female carriers.&lt;/strong&gt; Hum. Genet. 55: 413-415, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7203475/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7203475&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00290228&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7203475">Fryns and Van den Berghe (1980)</a> in Belgium. The fourth family was previously unreported. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3856385+3476859+3024556+7203475" 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="#31" class="mim-tip-reference" title="Kelly, T. E., Lunt, P., Sarfarazi, M., Schnatterly, P., Thomas, N. S. T., Harper, P. S. &lt;strong&gt;Evidence that X-linked Charcot-Marie-Tooth disease and X-linked bulbospinal neuronopathy loci are on opposite sides of DXYS1. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 638, 1987."None>Kelly et al. (1987)</a> presented data suggesting that Charcot-Marie-Tooth disease and Kennedy spinal muscular atrophy (<a href="/entry/313200">313200</a>), both of which are linked to DXYS1, lie on opposite sides of this marker. <a href="#22" class="mim-tip-reference" title="Goonewardena, P., Welihinda, J., Anvret, M., Gyftodimou, J., Haegarmark, A., Iselius, L., Lindsten, J., Pettersson, U. &lt;strong&gt;The gene for X-linked Charcot-Marie-Tooth disease is very closely linked to the DXYS1 locus. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 622 only, 1987."None>Goonewardena et al. (1987)</a> found a peak lod score of 5.05 at theta = 0.0 for linkage between CMTX1 and DXYS1. Because <a href="#28" class="mim-tip-reference" title="Hodgson, S. V., Robertson, M. E., Fear, C. N., Goodship, J., Malcolm, S., Jay, B., Bobrow, M., Pembrey, M. E. &lt;strong&gt;Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.&lt;/strong&gt; Hum. Genet. 75: 286-290, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3030927/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3030927&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00281076&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3030927">Hodgson et al. (1987)</a> found deletion of DXYS1 in a male with choroideremia (<a href="/entry/303100">303100</a>) and mental retardation but without CMTX, <a href="#22" class="mim-tip-reference" title="Goonewardena, P., Welihinda, J., Anvret, M., Gyftodimou, J., Haegarmark, A., Iselius, L., Lindsten, J., Pettersson, U. &lt;strong&gt;The gene for X-linked Charcot-Marie-Tooth disease is very closely linked to the DXYS1 locus. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 622 only, 1987."None>Goonewardena et al. (1987)</a> concluded that the CMTX locus is proximal to DXYS1 and, presumably, to choroideremia. In a follow-up of the North Carolina family originally reported by <a href="#2" class="mim-tip-reference" title="Allan, W. &lt;strong&gt;Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.&lt;/strong&gt; Arch. Intern. Med. 63: 1123-1131, 1939."None>Allan (1939)</a>, <a href="#42" class="mim-tip-reference" title="Rozear, M. P., Pericak-Vance, M. A., Fischbeck, K., Stajich, J. M., Gaskell, P. C., Jr., Krendel, D. A., Graham, D. G., Dawson, D. V., Roses, A. D. &lt;strong&gt;Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.&lt;/strong&gt; Neurology 37: 1460-1465, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3476859/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3476859&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.37.9.1460&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3476859">Rozear et al. (1987)</a> presented data on 13 affected males and 25 obligate or probable heterozygous females, documenting the devastating nature of the disease in men and the highly variable degree of clinical involvement in female carriers. Studies of DNA markers were consistent with location of the gene in the area of DXYS1. The combination of their data with those from other families yielded a lod score of 3.614 at theta = 0.05 and of 5.753 at theta = 0.10. <a href="#23" class="mim-tip-reference" title="Goonewardena, P., Welihinda, J., Anvret, M., Gyftodimou, J., Haegermark, A., Iselius, L., Lindsten, J., Pettersson, U. &lt;strong&gt;A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.&lt;/strong&gt; Clin. Genet. 33: 435-440, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2901924/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2901924&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb03477.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2901924">Goonewardena et al. (1988)</a> added further data. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3030927+2901924+3476859" 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 large Scottish kindred, <a href="#17" class="mim-tip-reference" title="Fairweather, N., Kelly, K., Haites, N., Simpson, S., Clark, C., Johnston, A. &lt;strong&gt;Linkage study of a Scottish family segregating for X-linked Charcot-Marie-Tooth disease (CMTX). (Abstract)&lt;/strong&gt; Clinical Genetics Society, Aberdeen, Scotland, September 1988."None>Fairweather et al. (1988)</a> found a lod score of 3.34 at zero recombination for linkage with PGK1 (<a href="/entry/311800">311800</a>). In a single Scottish family, <a href="#25" class="mim-tip-reference" title="Haites, N., Fairweather, N., Clark, C., Kelly, K. F., Simpson, S., Johnston, A. W. &lt;strong&gt;Linkage in a family with X-linked Charcot-Marie-Tooth disease.&lt;/strong&gt; Clin. Genet. 35: 399-403, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2567643/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2567643&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb02964.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2567643">Haites et al. (1989)</a> found a lod score of 4.55 at a recombination fraction of 0.03 for linkage with DXYS1 and a lod score of 3.34 at zero recombination for linkage to PGK1. <a href="#37" class="mim-tip-reference" title="Mostacciuolo, M. L., Muller, E., Fardin, P., Micaglio, G. F., Bardoni, B., Guioli, S., Camerino, G., Danieli, G. A. &lt;strong&gt;X-linked Charcot-Marie-Tooth disease: a linkage study in a large family by using 12 probes of the pericentromeric region.&lt;/strong&gt; Hum. Genet. 87: 23-27, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1674715/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1674715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01213086&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1674715">Mostacciuolo et al. (1991)</a> presented data on a large Italian family which supported linkage in the pericentric region of the X chromosome. Using 4 variable short-sequence repeat markers, as well as RFLP markers, <a href="#8" class="mim-tip-reference" title="Bergoffen, J., Trofatter, J., Pericak-Vance, M. A., Haines, J. L., Chance, P. F., Fischbeck, K. H. &lt;strong&gt;Linkage localization of X-linked Charcot-Marie-Tooth disease.&lt;/strong&gt; Am. J. Hum. Genet. 52: 312-318, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8430694/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8430694&lt;/a&gt;]" pmid="8430694">Bergoffen et al. (1993)</a> localized the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-q12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0.0). Using 12 highly polymorphic short tandem repeat markers from the pericentric region of the X chromosome in the study of 4 multigenerational families with CMTX, <a href="#16" class="mim-tip-reference" title="Fain, P. R., Barker, D. F., Chance, P. F. &lt;strong&gt;Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.&lt;/strong&gt; Am. J. Hum. Genet. 54: 229-235, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8304339/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8304339&lt;/a&gt;]" pmid="8304339">Fain et al. (1994)</a> refined the localization of CMTX between DXS337 and DXS441, PGK1 lying distal to DXS441. <a href="#34" class="mim-tip-reference" title="Le Guern, E., Ravise, N., Gugenheim, M., Vignal, A., Penet, C., Bouche, P., Weissenbach, J., Agid, Y., Brice, A. &lt;strong&gt;Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.&lt;/strong&gt; Neuromusc. Disord. 4: 463-469, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7881290/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7881290&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0960-8966(94)90085-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7881290">Le Guern et al. (1994)</a> performed linkage analysis on a large family with X-linked dominant Charcot-Marie-Tooth disease. Multipoint linkage analysis mapped the responsible gene between the androgen receptor gene (<a href="/entry/313700">313700</a>) and DXYS1, with a maximum lod score of 4.60 at DXS453. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1674715+8430694+7881290+8304339+2567643" 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 affected persons from 8 CMTX families, <a href="#7" class="mim-tip-reference" title="Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H. &lt;strong&gt;Connexin mutations in X-linked Charcot-Marie-Tooth disease.&lt;/strong&gt; Science 262: 2039-2042, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8266101/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8266101&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.8266101&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8266101">Bergoffen et al. (1993)</a> demonstrated point mutations in the connexin-32 gene (e.g., <a href="/entry/304040#0001">304040.0001</a>). The families in which mutations were identified included one studied by William <a href="#2" class="mim-tip-reference" title="Allan, W. &lt;strong&gt;Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.&lt;/strong&gt; Arch. Intern. Med. 63: 1123-1131, 1939."None>Allan (1939)</a>, who had pointed out that this disorder is one of the entities that, like spastic paraplegia and retinitis pigmentosa, demonstrate autosomal dominant inheritance in some families, autosomal recessive inheritance in others, and X-linked inheritance in yet others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266101" 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="#49" class="mim-tip-reference" title="Tabaraud, F., Lagrange, E., Sindou, P., Vandenberghe, A., Levy, N., Vallat, J. M. &lt;strong&gt;Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.&lt;/strong&gt; Muscle Nerve 22: 1442-1447, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10487913/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10487913&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-4598(199910)22:10&lt;1442::aid-mus16&gt;3.0.co;2-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10487913">Tabaraud et al. (1999)</a> reported findings of prominent demyelination as the cause of X-linked Charcot-Marie-Tooth disease in a 71-year-old woman with late-onset disease. Electrophysiologic studies revealed a nonuniform slowing of motor conduction velocities and dispersion of compound action potentials indicative of a demyelinating process which was confirmed by nerve biopsy. Such electrophysiologic features are unusual in hereditary neuropathies and are more commonly found with acquired chronic demyelinating neuropathies. The patient was found to have a truncating mutation in the connexin-32 gene predicted to result in a protein of 102 codons rather than the normal 283 (<a href="/entry/304040#0013">304040.0013</a>). The authors noted that the pathology of CMTX in other reported cases had variably been interpreted as axonal, demyelinating, or showing both features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Casasnovas, C., Banchs, I., Corral, J., Martinez-Matos, J. A., Volpini, V. &lt;strong&gt;Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.&lt;/strong&gt; Clin. Genet. 70: 516-523, 2006. Note: Erratum: Clin. Genet. 71: 194 only, 2007. Erratum: Clin. Genet. 73: 196 only, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17100997/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17100997&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00724.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17100997">Casasnovas et al. (2006)</a> identified 34 GJB1 mutations, including 6 novel mutations, in 59 patients from 34 CMT families of Spanish or Portuguese descent. The extracellular loop domains were affected in 64.6% of mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100997" 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>Associations Pending Confirmation</em></strong></p><p>
For discussion of a possible association between an X-linked intermediate form of Charcot-Marie-Tooth disease and variation in the DRP2 gene, see <a href="/entry/300052#0001">300052.0001</a>.</p>
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<p><a href="#44" class="mim-tip-reference" title="Shy, M. E., Siskind, C., Swan, E. R., Krajewski, K. M., Doherty, T., Fuerst, D. R., Ainsworth, P. J., Lewis, R. A., Scherer, S. S., Hahn, A. F. &lt;strong&gt;CMT1X phenotypes represent loss of GJB1 gene function.&lt;/strong&gt; Neurology 68: 849-855, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17353473/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17353473&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000256709.08271.4d&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17353473">Shy et al. (2007)</a> evaluated 73 male patients with CMTX1, ranging from 9 to 76 years of age, who had a total of 28 distinct GJB1 mutations. Two patients had a complete deletion of the GJB1 gene, and all others had truncating or missense mutations affecting various regions of the protein. Disability was relatively mild in the first 2 decades but progressed to severe after age 60, regardless of the mutation. There was no correlation between disease severity and specific mutations, and there was considerable variability among many patients carrying the same mutation. Moreover, virtually all patients of a given age had similar severity scores regardless of the mutation, and similar phenotypes resulted from deletions, missense, and nonsense mutations. Electrophysiologic studies indicated that axonal loss progressed with age, whereas conduction slowing did not clearly correlate with age. Functional disability correlated with motor axonal loss. <a href="#44" class="mim-tip-reference" title="Shy, M. E., Siskind, C., Swan, E. R., Krajewski, K. M., Doherty, T., Fuerst, D. R., Ainsworth, P. J., Lewis, R. A., Scherer, S. S., Hahn, A. F. &lt;strong&gt;CMT1X phenotypes represent loss of GJB1 gene function.&lt;/strong&gt; Neurology 68: 849-855, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17353473/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17353473&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000256709.08271.4d&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17353473">Shy et al. (2007)</a> concluded that GJB1 mutations result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17353473" 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="#1" class="mim-tip-reference" title="Abe, A., Numakura, C., Kijima, K., Hayashi, M., Hashimoto, T., Hayasaka, K. &lt;strong&gt;Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.&lt;/strong&gt; J. Hum. Genet. 56: 364-368, 2011. Note: Erratum: J. Hum. Genet. 56: 751 only, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21326314/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21326314&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2011.20&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21326314">Abe et al. (2011)</a> identified GJB1 mutations in 19 (8.5%) of 227 Japanese patients with demyelinating CMT and in 6 (4.7%) of 127 Japanese patients with axonal CMT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326314" 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 28 (5.3%) of 527 unrelated Korean families with CMT, <a href="#33" class="mim-tip-reference" title="Kim, Y., Choi, K.-G., Park, K. D., Lee, K. S., Chung, K. W., Choi, B.-O. &lt;strong&gt;X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.&lt;/strong&gt; Clin. Genet. 81: 142-149, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21291455/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21291455&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2011.01642.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21291455">Kim et al. (2012)</a> identified 23 different mutations in the GJB1 gene (see, e.g., <a href="/entry/304040#0005">304040.0005</a> and <a href="/entry/304040#0011">304040.0011</a>). Nine of the mutations were novel. Mutations affected the extracellular 2 (EC2) domain of the protein in 44% of families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21291455" 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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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
</span>
</h4>
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<a href="#Beckett1985" class="mim-tip-reference" title="Beckett, J., White, B. N., Simpson, N. E., Holden, J. J. A., MacLeod, P. M. &lt;strong&gt;Linkage of DXYS1 locus with X-linked dominant Charcot-Marie-Tooth disease. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 37: A144, 1985.">Beckett et al. (1985)</a>; <a href="#de1978" class="mim-tip-reference" title="de Weerdt, C. J. &lt;strong&gt;Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.&lt;/strong&gt; Europ. Neurol. 17: 336-344, 1978.">de Weerdt (1978)</a>; <a href="#Kelly1982" class="mim-tip-reference" title="Kelly, T. E., Schnatterly, D., Phillips, L., Parker, D. &lt;strong&gt;An X-linked dominant form of hereditary motor sensory neuropathy (Charcot-Marie-Tooth disease). (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 34: 97A, 1982.">Kelly et al. (1982)</a>; <a href="#Skre1974" class="mim-tip-reference" title="Skre, H. &lt;strong&gt;Genetic and clinical aspects of Charcot-Marie-Tooth disease.&lt;/strong&gt; Clin. Genet. 6: 98-118, 1974.">Skre
(1974)</a>
</span>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
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<a id="1" class="mim-anchor"></a>
<a id="Abe2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Abe, A., Numakura, C., Kijima, K., Hayashi, M., Hashimoto, T., Hayasaka, K.
<strong>Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.</strong>
J. Hum. Genet. 56: 364-368, 2011. Note: Erratum: J. Hum. Genet. 56: 751 only, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/jhg.2011.20" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Allan1939" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Allan, W.
<strong>Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.</strong>
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<a id="Becker1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Becker, P. E.
<strong>Humangenetik; ein kurzes Handbuch. Vol. 5. Part 1.</strong>
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<a id="4" class="mim-anchor"></a>
<a id="Beckett1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beckett, J., Holden, J. J. A., Simpson, N. E., White, B. N., MacLeod, P. M.
<strong>Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT2) to Xq13.</strong>
J. Neurogenet. 3: 225-231, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3462379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3462379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3462379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/01677068609106852" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Beckett1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beckett, J., White, B. N., Simpson, N. E., Ebers, G. C., Holden, J., MacLeod, P. M.
<strong>A linkage study using DNA markers localizes the gene for X-linked dominant Charcot-Marie-Tooth disease at Xq13-Xq22. (Abstract)</strong>
Cytogenet. Cell Genet. 40: 579, 1985.
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<a id="6" class="mim-anchor"></a>
<a id="Beckett1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beckett, J., White, B. N., Simpson, N. E., Holden, J. J. A., MacLeod, P. M.
<strong>Linkage of DXYS1 locus with X-linked dominant Charcot-Marie-Tooth disease. (Abstract)</strong>
Am. J. Hum. Genet. 37: A144, 1985.
</p>
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<li>
<a id="7" class="mim-anchor"></a>
<a id="Bergoffen1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H.
<strong>Connexin mutations in X-linked Charcot-Marie-Tooth disease.</strong>
Science 262: 2039-2042, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266101</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.8266101" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Bergoffen1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bergoffen, J., Trofatter, J., Pericak-Vance, M. A., Haines, J. L., Chance, P. F., Fischbeck, K. H.
<strong>Linkage localization of X-linked Charcot-Marie-Tooth disease.</strong>
Am. J. Hum. Genet. 52: 312-318, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8430694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8430694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8430694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Birouk1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Birouk, N., LeGuern, E., Maisonobe, T., Rouger, H., Gouider, R., Tardieu, S., Gugenheim, M., Routon, M. C., Leger, J. M., Agid, Y., Brice, A., Bouche, P.
<strong>X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.</strong>
Neurology 50: 1074-1082, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9566397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9566397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9566397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.50.4.1074" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Caramins2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Caramins, M., Colebatch, J. G., Bainbridge, M. N., Scherer, S. S., Abrams, C. K., Hackett, E. L., Freidin, M. M., Jhangiani, S. N., Wang, M., Wu, Y., Muzny, D. M., Lindeman, R., Gibbs, R. A.
<strong>Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).</strong>
Hum. Molec. Genet. 22: 4329-4338, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23773993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23773993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23773993[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23773993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddt282" target="_blank">Full Text</a>]
</p>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Casasnovas2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Casasnovas, C., Banchs, I., Corral, J., Martinez-Matos, J. A., Volpini, V.
<strong>Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.</strong>
Clin. Genet. 70: 516-523, 2006. Note: Erratum: Clin. Genet. 71: 194 only, 2007. Erratum: Clin. Genet. 73: 196 only, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2006.00724.x" target="_blank">Full Text</a>]
</p>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Cowchock1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cowchock, F. S., Duckett, S. W., Streletz, L. J., Graziani, L. J., Jackson, L. G.
<strong>X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.</strong>
Am. J. Med. Genet. 20: 307-315, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3856385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3856385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3856385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320200214" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="de Weerdt1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Weerdt, C. J., Daniels, G. L., Tippett, P.
<strong>Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups.</strong>
J. Med. Genet. 13: 399, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1003451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1003451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1003451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.13.5.399" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="14" class="mim-anchor"></a>
<a id="de Weerdt1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Weerdt, C. J.
<strong>Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.</strong>
Europ. Neurol. 17: 336-344, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/744199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">744199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=744199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000114972" target="_blank">Full Text</a>]
</p>
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<li>
<a id="15" class="mim-anchor"></a>
<a id="Erwin1944" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Erwin, W. G.
<strong>A pedigree of sex-linked recessive peroneal atrophy.</strong>
J. Hered. 35: 24-26, 1944.
</p>
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<a id="Fain1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fain, P. R., Barker, D. F., Chance, P. F.
<strong>Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.</strong>
Am. J. Hum. Genet. 54: 229-235, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Fairweather1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fairweather, N., Kelly, K., Haites, N., Simpson, S., Clark, C., Johnston, A.
<strong>Linkage study of a Scottish family segregating for X-linked Charcot-Marie-Tooth disease (CMTX). (Abstract)</strong>
Clinical Genetics Society, Aberdeen, Scotland, September 1988.
</p>
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<li>
<a id="18" class="mim-anchor"></a>
<a id="Fischbeck1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fischbeck, K. H., ar-Rushdi, N., Pericak-Vance, M., Rozear, M., Roses, A. D., Fryns, J. P.
<strong>X-linked neuropathy: gene localization with DNA probes.</strong>
Ann. Neurol. 20: 527-532, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3024556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3024556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3024556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410200414" target="_blank">Full Text</a>]
</p>
</div>
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<a id="19" class="mim-anchor"></a>
<a id="Fischbeck1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fischbeck, K. H., ar-Rushdi, N., Rozear, M., Pericak-Vance, M., Fryns, J. P.
<strong>X-linked neuropathy: gene localization with DNA probes. (Abstract)</strong>
Am. J. Hum. Genet. 37: A153, 1985.
</p>
</div>
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<li>
<a id="20" class="mim-anchor"></a>
<a id="Fryns1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., Van den Berghe, H.
<strong>Sex-linked recessive inheritance in Charcot-Marie-Tooth disease with partial manifestation in female carriers.</strong>
Hum. Genet. 55: 413-415, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7203475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7203475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7203475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00290228" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Gal1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gal, A., Mucke, J., Theile, H., Wieacker, P. F., Ropers, H.-H., Wienker, T. F.
<strong>X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.</strong>
Hum. Genet. 70: 38-42, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2987105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2987105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2987105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00389456" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Goonewardena1987" class="mim-anchor"></a>
<div class="">
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Goonewardena, P., Welihinda, J., Anvret, M., Gyftodimou, J., Haegarmark, A., Iselius, L., Lindsten, J., Pettersson, U.
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03477.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/113.5.1511" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02964.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.60.4.605" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00281076" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1601-5223.1982.tb00723.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01642.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0960-8966(94)90085-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.66.6.803" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.22235" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01213086" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.51.5.1412" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.65.6.947a" target="_blank">Full Text</a>]
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<strong>A spinocerebellar degeneration with X-linked inheritance.</strong>
Brain 102: 27-41, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/427531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">427531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=427531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/102.1.27" target="_blank">Full Text</a>]
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<a id="48" class="mim-anchor"></a>
<a id="Stojkovic1999" class="mim-anchor"></a>
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Stojkovic, T., Latour, P., Vandenberghe, A., Hurtevent, J. F., Vermersch, P.
<strong>Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q).</strong>
Neurology 52: 1010-1014, 1999. Note: Erratum: Neurology 52: 1952 only, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10102421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10102421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10102421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.52.5.1010" target="_blank">Full Text</a>]
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<a id="49" class="mim-anchor"></a>
<a id="Tabaraud1999" class="mim-anchor"></a>
<div class="">
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Tabaraud, F., Lagrange, E., Sindou, P., Vandenberghe, A., Levy, N., Vallat, J. M.
<strong>Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.</strong>
Muscle Nerve 22: 1442-1447, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1097-4598(199910)22:10&lt;1442::aid-mus16&gt;3.0.co;2-6" target="_blank">Full Text</a>]
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<a id="Taylor2003" class="mim-anchor"></a>
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Taylor, R. A., Simon, E. M., Marks, H. G., Scherer, S. S.
<strong>The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.</strong>
Neurology 61: 1475-1478, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000095960.48964.25" target="_blank">Full Text</a>]
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<a id="51" class="mim-anchor"></a>
<a id="Woratz1964" class="mim-anchor"></a>
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Woratz, G.
<strong>Neurale Muskelatrophie mit dominantem X-chromosomalem Erbgang.</strong>
Berlin: Akademie-Verlag (pub.) 1964.
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<a id="Yiu2011" class="mim-anchor"></a>
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Yiu, E. M., Geevasinga, N., Nicholson, G. A., Fagan, E. R., Ryan, M. M., Ouvrier, R. A.
<strong>A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.</strong>
Neurology 76: 461-466, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21282593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21282593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21282593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/WNL.0b013e31820a0ceb" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 3/18/2014
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Cassandra L. Kniffin - updated : 2/10/2014<br>Cassandra L. Kniffin - updated : 12/15/2011<br>Cassandra L. Kniffin - updated : 10/13/2011<br>Cassandra L. Kniffin - updated : 5/5/2011<br>Cassandra L. Kniffin - updated : 2/4/2008<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Cassandra L. Kniffin - updated : 2/3/2004<br>Cassandra L. Kniffin - updated : 5/28/2003<br>Cassandra L. Kniffin - reorganized : 4/28/2003<br>Victor A. McKusick - updated : 1/21/2003<br>Victor A. McKusick - updated : 12/8/1999<br>Orest Hurko - updated : 11/9/1998<br>Cynthia K. Ewing - updated : 8/31/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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alopez : 05/16/2019
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carol : 02/11/2019<br>carol : 10/17/2016<br>alopez : 11/17/2015<br>ckniffin : 11/17/2015<br>ckniffin : 3/18/2014<br>carol : 2/12/2014<br>mcolton : 2/10/2014<br>ckniffin : 2/10/2014<br>carol : 8/16/2013<br>ckniffin : 8/15/2013<br>terry : 4/1/2013<br>carol : 12/16/2011<br>ckniffin : 12/15/2011<br>ckniffin : 12/15/2011<br>carol : 10/21/2011<br>ckniffin : 10/13/2011<br>carol : 10/13/2011<br>wwang : 5/23/2011<br>ckniffin : 5/5/2011<br>wwang : 1/28/2011<br>wwang : 9/10/2010<br>terry : 5/12/2010<br>wwang : 5/8/2008<br>ckniffin : 2/29/2008<br>wwang : 2/19/2008<br>ckniffin : 2/4/2008<br>wwang : 5/29/2007<br>ckniffin : 5/7/2007<br>carol : 12/23/2005<br>wwang : 11/17/2005<br>ckniffin : 11/10/2005<br>wwang : 8/26/2005<br>mgross : 3/15/2005<br>terry : 2/10/2005<br>ckniffin : 2/3/2004<br>tkritzer : 6/9/2003<br>ckniffin : 5/28/2003<br>carol : 4/28/2003<br>ckniffin : 4/24/2003<br>ckniffin : 4/23/2003<br>ckniffin : 4/15/2003<br>cwells : 1/27/2003<br>tkritzer : 1/21/2003<br>carol : 12/8/1999<br>terry : 12/8/1999<br>carol : 12/3/1998<br>terry : 11/9/1998<br>mark : 9/4/1996<br>randy : 8/31/1996<br>terry : 8/29/1996<br>mark : 8/27/1996<br>mark : 3/8/1996<br>terry : 10/26/1995<br>mark : 10/25/1995<br>carol : 5/31/1994<br>warfield : 4/19/1994<br>mimadm : 4/8/1994<br>pfoster : 4/5/1994
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<strong>#</strong> 302800
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CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1
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<em>Alternative titles; symbols</em>
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CMTX<br />
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED<br />
HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED<br />
HMSN, X-LINKED<br />
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1<br />
CMT2, FORMERLY
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<strong>SNOMEDCT:</strong> 763455008; &nbsp;
<strong>ORPHA:</strong> 101075, 1175; &nbsp;
<strong>DO:</strong> 0110209; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xq13.1
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Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
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302800
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X-linked dominant
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3
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GJB1
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304040
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked dominant Charcot-Marie-Tooth disease-1 (CMTX1) is caused by hemizygous or heterozygous mutation in the GJB1 gene (304040) on chromosome Xq13.</p>
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<strong>Description</strong>
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<p>Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1) and primary peripheral axonal (type 2) neuropathies. The demyelinating neuropathies classified as CMT type 1, also known as HMSN I, are characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy (see CMT1B; 118200). The axonal neuropathies classified as CMT type 2, also known as HMSN II, are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590) is a spinal type of CMT characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). There are X-linked, autosomal dominant (see 118200), and autosomal recessive (see 214400) forms of CMT. </p><p>The form of Charcot-Marie-Tooth neuropathy that maps to chromosome Xq13 (CMTX1) is X-linked dominant or X-linked intermediate; heterozygous females are more mildly affected than are hemizygous males.</p><p><strong><em>Genetic Heterogeneity of X-linked Charcot-Marie-Tooth Disease</em></strong></p><p>
Ionasescu et al. (1991) presented data suggesting the existence of an X-linked recessive CMT disease on Xp22.2 (CMTX2; 302801). CMTX3 is caused by a genomic rearrangement between chromosomes 8q24.3 and Xq27.1. Cowchock syndrome (310490), which maps to chromosome Xq26, is also referred to as CMTX4. CMTX5 (311070) is caused by mutation in the PRPS1 gene (311850) on chromosome Xq22. CMTX6 (300905) is caused by mutation in the PDK3 gene (300906) on Xp22. </p>
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<strong>Clinical Features</strong>
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<p>CMTX has both demyelinating and axonal features (Bergoffen et al., 1993, Hahn et al., 1990). </p><p>Phillips et al. (1985) described a large family with a pattern of X-linked dominant inheritance. Clinically and electrophysiologically, the phenotype was similar to HMSN of the 'intermediate' type, in accordance with the Allan rule (Allan, 1939). Men were more severely affected than women, with very slow nerve conduction velocities. NCVs were mildly slow or normal in women. Hypertrophic nerves were not found. </p><p>Hahn et al. (1990) reported clinical, neuropathologic, and electrophysiologic observations on a French Canadian family with HMSN transmitted as an X-linked dominant disorder over 6 generations. The disorder was characterized by onset in early childhood, pes cavus, atrophy and weakness of peroneal muscles and intrinsic hand muscles, and sensory abnormalities. Males were severely affected, whereas females had mild or subclinical disease. Electrophysiologic observations indicated a substantial loss of distal motor and sensory nerve fibers. Evoked muscle action potentials were absent or severely reduced and peroneal motor nerve conduction velocities were mildly reduced to a mean of 36.5 m/s. Nerve biopsies showed loss of myelinated and unmyelinated nerve fibers, regenerative sprouting, and secondary demyelination. The authors concluded that this form of HMSN is the result of primary axonal degeneration. </p><p>Fain et al. (1994) examined 52 affected individuals from 4 multigenerational kindreds. All affected males had distal muscle weakness, atrophy, depressed deep tendon reflexes, and motor NCV less than 38 m/s. All females who were considered affected had mild distal muscle weakness, hypoactive reflexes, and NCV less than 38 m/s, consistent with a demyelinating neuropathy. The majority of affected females showed significant weakness beyond the fourth decade. Variable pes cavus deformity and variable degree of sensory loss were present in both affected males and females. </p><p>Le Guern et al. (1994) reported a large family with X-linked dominant Charcot-Marie-Tooth disease. There were 7 affected males with NCV between 31 and 35 m/s in the median nerve and 12 affected females with NCV ranging from 31 to 52 m/s in the median nerve. Four of the women were asymptomatic but demonstrated electrophysiologic abnormalities. No male-to-male transmission was detected. </p><p>Birouk et al. (1998) examined 48 CMTX patients from 10 families with CMTX1, confirmed by mutation analysis. Males were more severely affected than females, although 6 females were severely disabled. Motor NCV ranged from 30 to 40 m/s in males. Sural nerve biopsies showed axonal neuropathy. The authors concluded that this was an axonal neuropathy rather than a demyelinating disease. </p><p>Yiu et al. (2011) provided a retrospective review of 17 children with X-linked CMT, 8 of whom (6 boys and 2 girls) had proven pathogenic mutations in the GJB1 gene. Most children with CMTX1 presented in infancy or early childhood with gait disturbances, although 3 presented with atypical features: a boy with hand tremor at age 12 years, a girl with sensorineural hearing loss at age 3 years, and a boy with transient CNS disturbance after hyperventilation at age 10 years, although in retrospect he had always walked flat-footed. Clinical features included toe walking (3 of 8), Achilles contractures (5), delayed motor development (3), frequent falls (4), hand weakness (2), hand tremor (3), and ankle sprains (2). Physical examination findings included pes cavus (5 of 8), distal lower limb wasting (4), distal upper limb wasting (5), difficulty walking on heels (6), distal lower limb weakness (6), distal upper limb weakness (3), absent ankle jerks (7), and distal sensory loss (3). Nerve conduction velocity studies in 3 boys ranged from 30 to 50 m/s and in 1 girl ranged from 41 to 46 m/s. The girl who presented with hearing loss had no other neurologic abnormalities. Two patients had sural nerve biopsies showing a reduction in myelinated nerve fiber density, thin myelin sheaths, and onion bulb formations. Muscle biopsy from 1 patient showed neurogenic changes with marked fiber size variation and type 1 fiber predominance. Five obligate carrier mothers had an abnormal neurologic examination, with distal upper and lower limb wasting and weakness with foot deformities. One girl and an unrelated carrier mother had recurrent pathologic fractures, an unusual feature. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Spira et al. (1979) reported a family originating from South Australia with X-linked recessive inheritance of spinocerebellar degeneration in 10 males. Age at onset of ataxia was in the first or second decade, with the 2 oldest patients becoming wheelchair-bound as young adults. Cerebellar features included gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, and nystagmus. Other features included pes cavus, scoliosis, hyperreflexia with absent ankle reflexes, extensor plantar responses, and muscle atrophy. Decreased distal position and vibration sense were noted only in the 2 oldest patients. Motor nerve conduction velocities were decreased and sensory nerve conduction studies showed increased latency and decreased amplitude. Sural nerve biopsy showed marked reduction in the density of large diameter fibers. Postmortem findings of 1 patient showed extensive loss of cerebellar Purkinje cells, loss of neurons and myelin from the inferior olives, and loss of myelin from the spinocerebellar tracts, posterior columns, and corticospinal tracts. Intelligence was unaffected. Caramins et al. (2013) reported follow-up of the family studied by Spira et al. (1979). Physical examination of 4 available affected males revealed a consistent phenotype with cerebellar signs, pyramidal features, and signs of a sensorimotor neuropathy, which was confirmed by electrophysiologic studies. Brain MRI of 1 patient showed cerebellar and spinal cord atrophy. A 67-year-old asymptomatic obligate female carrier who was examined showed minor heel-shin ataxia, gait impairment, and absent ankle jerks. Exome sequencing revealed a missense mutation in the GJB1 gene (P58S; 304040.0022) that segregated with the disorder in the family. </p><p><strong><em>Central Nervous System Involvement</em></strong></p><p>
There are reports of CNS involvement in CMTX1 with (Panas et al., 1998; Marques et al., 1999) and without (Stojkovic et al., 1999; Nicholson et al., 1998) cerebral abnormalities on MRI. Schelhaas et al. (2002) presented a 14-year-old boy with CMTX1 who developed subacute respiratory distress and a pseudobulbar syndrome after an episode of fever. MRI of the brain showed confluent cerebral white matter lesions. The clinical features and cerebral white matter lesions in this patient resolved spontaneously. </p><p>Hanemann et al. (2003) reported a family in which 3 members were affected with X-linked CMT. In addition to classic CMT clinical findings, all 3 patients had transient CNS symptoms correlating with transient and reversible white matter lesions on MRI. CNS symptoms included paraparesis, monoparesis, tetraparesis, dysarthria, aphasia, and cranial nerve palsies. </p><p>Taylor et al. (2003) reported a 12-year-old boy with X-linked CMT who had 3 consecutive episodes of transient neurologic dysfunction over the course of 3 days, with complete recovery between each episode. Deficits included numbness of the face, paresis of the face and limbs, dysarthria, complete motor aphasia, and loss of gag reflex. MRI showed abnormal signals in the posterior frontal and parietal white matter, which improved 11 weeks later. </p>
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<strong>Inheritance</strong>
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<p>Herringham (1889) reported a family with 20 affected males in 4 generations. Erwin (1944) observed 7 cases of sex-linked recessive inheritance in 5 generations. Woratz (1964) (cited by Becker, 1966) studied a family in which X-linked dominant inheritance was present. A large number of persons in 6 generations were affected. Ten affected fathers had only affected daughters (15) and only normal sons (8), whereas 26 affected mothers had affected sons (23) and affected daughters (21) as well as unaffected offspring. Males were more severely affected than females.</p><p>The large kindred reported by Gal et al. (1985) was said to follow complete X-linked dominant inheritance, whereas the large family described by Goonewardena et al. (1988) showed X-linked incomplete dominant inheritance, with variable expression among daughters of affected males or carrier females. Bergoffen et al. (1993) noted that this form of CMT is an X-linked dominant condition with incomplete penetrance. </p>
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<strong>Diagnosis</strong>
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<p>Montenegro et al. (2011) reported the use of exome sequencing to identify a mutation in the GJB1 gene (V95M; 304040.0011) in affected members of a large family with Charcot-Marie-Tooth disease and a questionable inheritance pattern. Affected individuals had classic features of the disease, with onset between ages 14 and 40 years of distal sensory impairment and muscle weakness and atrophy affecting the upper and lower limbs. Nerve conduction velocities were in the intermediate range. </p>
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<strong>Mapping</strong>
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</div>
<span class="mim-text-font">
<p>De Weerdt et al. (1976) excluded close linkage of X-linked CMT to the Xg locus. A large pedigree was reported by Iselius and Grimby (1982). Close linkage to colorblindness was excluded. In a restudy of the original family reported by Woratz (1964), an exceptionally extensive pedigree, Gal et al. (1985) found a suggestion of close linkage with a polymorphic DNA probe, DXYS1 (pDp34), located on the proximal long arm of X (Xq13-q21). The lod score was 1.358 at 0.0 recombination. The regional assignment was confirmed through the work of Fischbeck et al. (1985, 1986), who referred to the disorder as X-linked neuropathy, and that of Beckett et al. (1985, 1986) linking it to DXYS1. Beckett et al. (1985, 1986) suggested that CMTX1 (and DXYS1) may be distal to PGK1 (311800) in band Xq13. </p><p>Using DNA markers, Fischbeck et al. (1986) performed linkage studies in 4 families with X-linked neuropathy. In each case, they confirmed X-linkage as opposed to sex-limited expression of an autosomal dominant disorder. Furthermore, although there was considerable clinical interfamilial variability, the neuropathy gene in each family was located in the same region, near DXYS1 and the centromere of the X chromosome, so that these presumably represent either identical or allelic disorders. One of their families was of Italian ancestry living in Bucks County, Pennsylvania. Onset in this family was very early and progression gradual. Several of those affected had associated deafness (Cowchock et al., 1985; Sladky and Brown, 1984); see 310490. Their family 2 was originally described by Allan (1939) and thus has great historical interest; the family had been restudied by Rozear et al. (1987). The third family was that described by Fryns and Van den Berghe (1980) in Belgium. The fourth family was previously unreported. </p><p>Kelly et al. (1987) presented data suggesting that Charcot-Marie-Tooth disease and Kennedy spinal muscular atrophy (313200), both of which are linked to DXYS1, lie on opposite sides of this marker. Goonewardena et al. (1987) found a peak lod score of 5.05 at theta = 0.0 for linkage between CMTX1 and DXYS1. Because Hodgson et al. (1987) found deletion of DXYS1 in a male with choroideremia (303100) and mental retardation but without CMTX, Goonewardena et al. (1987) concluded that the CMTX locus is proximal to DXYS1 and, presumably, to choroideremia. In a follow-up of the North Carolina family originally reported by Allan (1939), Rozear et al. (1987) presented data on 13 affected males and 25 obligate or probable heterozygous females, documenting the devastating nature of the disease in men and the highly variable degree of clinical involvement in female carriers. Studies of DNA markers were consistent with location of the gene in the area of DXYS1. The combination of their data with those from other families yielded a lod score of 3.614 at theta = 0.05 and of 5.753 at theta = 0.10. Goonewardena et al. (1988) added further data. </p><p>In a large Scottish kindred, Fairweather et al. (1988) found a lod score of 3.34 at zero recombination for linkage with PGK1 (311800). In a single Scottish family, Haites et al. (1989) found a lod score of 4.55 at a recombination fraction of 0.03 for linkage with DXYS1 and a lod score of 3.34 at zero recombination for linkage to PGK1. Mostacciuolo et al. (1991) presented data on a large Italian family which supported linkage in the pericentric region of the X chromosome. Using 4 variable short-sequence repeat markers, as well as RFLP markers, Bergoffen et al. (1993) localized the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-q12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0.0). Using 12 highly polymorphic short tandem repeat markers from the pericentric region of the X chromosome in the study of 4 multigenerational families with CMTX, Fain et al. (1994) refined the localization of CMTX between DXS337 and DXS441, PGK1 lying distal to DXS441. Le Guern et al. (1994) performed linkage analysis on a large family with X-linked dominant Charcot-Marie-Tooth disease. Multipoint linkage analysis mapped the responsible gene between the androgen receptor gene (313700) and DXYS1, with a maximum lod score of 4.60 at DXS453. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected persons from 8 CMTX families, Bergoffen et al. (1993) demonstrated point mutations in the connexin-32 gene (e.g., 304040.0001). The families in which mutations were identified included one studied by William Allan (1939), who had pointed out that this disorder is one of the entities that, like spastic paraplegia and retinitis pigmentosa, demonstrate autosomal dominant inheritance in some families, autosomal recessive inheritance in others, and X-linked inheritance in yet others. </p><p>Tabaraud et al. (1999) reported findings of prominent demyelination as the cause of X-linked Charcot-Marie-Tooth disease in a 71-year-old woman with late-onset disease. Electrophysiologic studies revealed a nonuniform slowing of motor conduction velocities and dispersion of compound action potentials indicative of a demyelinating process which was confirmed by nerve biopsy. Such electrophysiologic features are unusual in hereditary neuropathies and are more commonly found with acquired chronic demyelinating neuropathies. The patient was found to have a truncating mutation in the connexin-32 gene predicted to result in a protein of 102 codons rather than the normal 283 (304040.0013). The authors noted that the pathology of CMTX in other reported cases had variably been interpreted as axonal, demyelinating, or showing both features. </p><p>Casasnovas et al. (2006) identified 34 GJB1 mutations, including 6 novel mutations, in 59 patients from 34 CMT families of Spanish or Portuguese descent. The extracellular loop domains were affected in 64.6% of mutations. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
For discussion of a possible association between an X-linked intermediate form of Charcot-Marie-Tooth disease and variation in the DRP2 gene, see 300052.0001.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Shy et al. (2007) evaluated 73 male patients with CMTX1, ranging from 9 to 76 years of age, who had a total of 28 distinct GJB1 mutations. Two patients had a complete deletion of the GJB1 gene, and all others had truncating or missense mutations affecting various regions of the protein. Disability was relatively mild in the first 2 decades but progressed to severe after age 60, regardless of the mutation. There was no correlation between disease severity and specific mutations, and there was considerable variability among many patients carrying the same mutation. Moreover, virtually all patients of a given age had similar severity scores regardless of the mutation, and similar phenotypes resulted from deletions, missense, and nonsense mutations. Electrophysiologic studies indicated that axonal loss progressed with age, whereas conduction slowing did not clearly correlate with age. Functional disability correlated with motor axonal loss. Shy et al. (2007) concluded that GJB1 mutations result in a loss of function. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Abe et al. (2011) identified GJB1 mutations in 19 (8.5%) of 227 Japanese patients with demyelinating CMT and in 6 (4.7%) of 127 Japanese patients with axonal CMT. </p><p>In 28 (5.3%) of 527 unrelated Korean families with CMT, Kim et al. (2012) identified 23 different mutations in the GJB1 gene (see, e.g., 304040.0005 and 304040.0011). Nine of the mutations were novel. Mutations affected the extracellular 2 (EC2) domain of the protein in 44% of families. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Beckett et al. (1985); de Weerdt (1978); Kelly et al. (1982); Skre
(1974)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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Abe, A., Numakura, C., Kijima, K., Hayashi, M., Hashimoto, T., Hayasaka, K.
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<p class="mim-text-font">
Allan, W.
<strong>Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.</strong>
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<p class="mim-text-font">
Becker, P. E.
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de Weerdt, C. J., Daniels, G. L., Tippett, P.
<strong>Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups.</strong>
J. Med. Genet. 13: 399, 1976.
[PubMed: 1003451]
[Full Text: https://doi.org/10.1136/jmg.13.5.399]
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de Weerdt, C. J.
<strong>Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.</strong>
Europ. Neurol. 17: 336-344, 1978.
[PubMed: 744199]
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Erwin, W. G.
<strong>A pedigree of sex-linked recessive peroneal atrophy.</strong>
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Fain, P. R., Barker, D. F., Chance, P. F.
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Am. J. Hum. Genet. 54: 229-235, 1994.
[PubMed: 8304339]
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Fairweather, N., Kelly, K., Haites, N., Simpson, S., Clark, C., Johnston, A.
<strong>Linkage study of a Scottish family segregating for X-linked Charcot-Marie-Tooth disease (CMTX). (Abstract)</strong>
Clinical Genetics Society, Aberdeen, Scotland, September 1988.
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<p class="mim-text-font">
Fischbeck, K. H., ar-Rushdi, N., Pericak-Vance, M., Rozear, M., Roses, A. D., Fryns, J. P.
<strong>X-linked neuropathy: gene localization with DNA probes.</strong>
Ann. Neurol. 20: 527-532, 1986.
[PubMed: 3024556]
[Full Text: https://doi.org/10.1002/ana.410200414]
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Fischbeck, K. H., ar-Rushdi, N., Rozear, M., Pericak-Vance, M., Fryns, J. P.
<strong>X-linked neuropathy: gene localization with DNA probes. (Abstract)</strong>
Am. J. Hum. Genet. 37: A153, 1985.
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Fryns, J. P., Van den Berghe, H.
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Gal, A., Mucke, J., Theile, H., Wieacker, P. F., Ropers, H.-H., Wienker, T. F.
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[PubMed: 2987105]
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Goonewardena, P., Welihinda, J., Anvret, M., Gyftodimou, J., Haegarmark, A., Iselius, L., Lindsten, J., Pettersson, U.
<strong>The gene for X-linked Charcot-Marie-Tooth disease is very closely linked to the DXYS1 locus. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 622 only, 1987.
</p>
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<p class="mim-text-font">
Goonewardena, P., Welihinda, J., Anvret, M., Gyftodimou, J., Haegermark, A., Iselius, L., Lindsten, J., Pettersson, U.
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Haites, N., Fairweather, N., Clark, C., Kelly, K. F., Simpson, S., Johnston, A. W.
<strong>Linkage in a family with X-linked Charcot-Marie-Tooth disease.</strong>
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Herringham, W. P.
<strong>Muscular atrophy of the peroneal type affecting many members of a family.</strong>
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</p>
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Hodgson, S. V., Robertson, M. E., Fear, C. N., Goodship, J., Malcolm, S., Jay, B., Bobrow, M., Pembrey, M. E.
<strong>Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.</strong>
Hum. Genet. 75: 286-290, 1987.
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Ionasescu, V. V., Trofatter, J., Haines, J. L., Summers, A. M., Ionasescu, R., Searby, C.
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Iselius, L., Grimby, L.
<strong>A family with Charcot-Marie-Tooth&#x27;s disease, showing a probable X-linked incompletely dominant inheritance.</strong>
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[PubMed: 6890052]
[Full Text: https://doi.org/10.1111/j.1601-5223.1982.tb00723.x]
</p>
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<p class="mim-text-font">
Kelly, T. E., Lunt, P., Sarfarazi, M., Schnatterly, P., Thomas, N. S. T., Harper, P. S.
<strong>Evidence that X-linked Charcot-Marie-Tooth disease and X-linked bulbospinal neuronopathy loci are on opposite sides of DXYS1. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 638, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Kelly, T. E., Schnatterly, D., Phillips, L., Parker, D.
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</p>
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Kim, Y., Choi, K.-G., Park, K. D., Lee, K. S., Chung, K. W., Choi, B.-O.
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[PubMed: 7881290]
[Full Text: https://doi.org/10.1016/0960-8966(94)90085-x]
</p>
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<li>
<p class="mim-text-font">
Marques, W., Jr., Sweeney, M. G., Wood, N. W., Wroe, S. J., Marques, W.
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[PubMed: 10400511]
[Full Text: https://doi.org/10.1136/jnnp.66.6.803]
</p>
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<li>
<p class="mim-text-font">
Montenegro, G., Powell, E., Huang, J., Speziani, F., Edwards, Y. J. K., Beecham, G., Hulme, W., Siskind, C., Vance, J., Shy, M., Zuchner, S.
<strong>Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.</strong>
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[PubMed: 21254193]
[Full Text: https://doi.org/10.1002/ana.22235]
</p>
</li>
<li>
<p class="mim-text-font">
Mostacciuolo, M. L., Muller, E., Fardin, P., Micaglio, G. F., Bardoni, B., Guioli, S., Camerino, G., Danieli, G. A.
<strong>X-linked Charcot-Marie-Tooth disease: a linkage study in a large family by using 12 probes of the pericentromeric region.</strong>
Hum. Genet. 87: 23-27, 1991.
[PubMed: 1674715]
[Full Text: https://doi.org/10.1007/BF01213086]
</p>
</li>
<li>
<p class="mim-text-font">
Nicholson, G. A., Yeung, L., Corbett, A.
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Neurology 51: 1412-1416, 1998.
[PubMed: 9818870]
[Full Text: https://doi.org/10.1212/wnl.51.5.1412]
</p>
</li>
<li>
<p class="mim-text-font">
Panas, M., Karadimas, C., Avramopoulos, D., Vassilopoulos, D.
<strong>Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations. (Letter)</strong>
J. Neurol. Neurosurg. Psychiat. 65: 947-948, 1998.
[PubMed: 9854984]
[Full Text: https://doi.org/10.1136/jnnp.65.6.947a]
</p>
</li>
<li>
<p class="mim-text-font">
Pareyson, D.
<strong>Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.</strong>
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[PubMed: 10514227]
[Full Text: https://doi.org/10.1002/(sici)1097-4598(199911)22:11&lt;1498::aid-mus4&gt;3.0.co;2-9]
</p>
</li>
<li>
<p class="mim-text-font">
Phillips, L. H., II, Kelly, T. E., Schnatterly, P., Parker, D.
<strong>Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance.</strong>
Neurology 35: 498-502, 1985.
[PubMed: 3856757]
[Full Text: https://doi.org/10.1212/wnl.35.4.498]
</p>
</li>
<li>
<p class="mim-text-font">
Rozear, M. P., Pericak-Vance, M. A., Fischbeck, K., Stajich, J. M., Gaskell, P. C., Jr., Krendel, D. A., Graham, D. G., Dawson, D. V., Roses, A. D.
<strong>Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.</strong>
Neurology 37: 1460-1465, 1987.
[PubMed: 3476859]
[Full Text: https://doi.org/10.1212/wnl.37.9.1460]
</p>
</li>
<li>
<p class="mim-text-font">
Schelhaas, H. J., van Engelen, B. G. M., Gabreels-Festen, A. A. W. M., Hageman, G., Vliegen, J. H. R., van der Knaap, M. S., Zwarts, M. J.
<strong>Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.</strong>
Neurology 59: 2007-2008, 2002.
[PubMed: 12499506]
[Full Text: https://doi.org/10.1212/01.wnl.0000038390.29853.46]
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</li>
<li>
<p class="mim-text-font">
Shy, M. E., Siskind, C., Swan, E. R., Krajewski, K. M., Doherty, T., Fuerst, D. R., Ainsworth, P. J., Lewis, R. A., Scherer, S. S., Hahn, A. F.
<strong>CMT1X phenotypes represent loss of GJB1 gene function.</strong>
Neurology 68: 849-855, 2007.
[PubMed: 17353473]
[Full Text: https://doi.org/10.1212/01.wnl.0000256709.08271.4d]
</p>
</li>
<li>
<p class="mim-text-font">
Skre, H.
<strong>Genetic and clinical aspects of Charcot-Marie-Tooth disease.</strong>
Clin. Genet. 6: 98-118, 1974.
[PubMed: 4430158]
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb00638.x]
</p>
</li>
<li>
<p class="mim-text-font">
Sladky, J. T., Brown, M. J.
<strong>Infantile axonal polyneuropathy with X-linked inheritance. (Abstract)</strong>
Ann. Neurol. 16: 402, 1984.
</p>
</li>
<li>
<p class="mim-text-font">
Spira, P. J., McLeod, J. G., Evans, W. A.
<strong>A spinocerebellar degeneration with X-linked inheritance.</strong>
Brain 102: 27-41, 1979.
[PubMed: 427531]
[Full Text: https://doi.org/10.1093/brain/102.1.27]
</p>
</li>
<li>
<p class="mim-text-font">
Stojkovic, T., Latour, P., Vandenberghe, A., Hurtevent, J. F., Vermersch, P.
<strong>Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q).</strong>
Neurology 52: 1010-1014, 1999. Note: Erratum: Neurology 52: 1952 only, 1999.
[PubMed: 10102421]
[Full Text: https://doi.org/10.1212/wnl.52.5.1010]
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<p class="mim-text-font">
Tabaraud, F., Lagrange, E., Sindou, P., Vandenberghe, A., Levy, N., Vallat, J. M.
<strong>Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.</strong>
Muscle Nerve 22: 1442-1447, 1999.
[PubMed: 10487913]
[Full Text: https://doi.org/10.1002/(sici)1097-4598(199910)22:10&lt;1442::aid-mus16&gt;3.0.co;2-6]
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<li>
<p class="mim-text-font">
Taylor, R. A., Simon, E. M., Marks, H. G., Scherer, S. S.
<strong>The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.</strong>
Neurology 61: 1475-1478, 2003.
[PubMed: 14663027]
[Full Text: https://doi.org/10.1212/01.wnl.0000095960.48964.25]
</p>
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<li>
<p class="mim-text-font">
Woratz, G.
<strong>Neurale Muskelatrophie mit dominantem X-chromosomalem Erbgang.</strong>
Berlin: Akademie-Verlag (pub.) 1964.
</p>
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<li>
<p class="mim-text-font">
Yiu, E. M., Geevasinga, N., Nicholson, G. A., Fagan, E. R., Ryan, M. M., Ouvrier, R. A.
<strong>A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.</strong>
Neurology 76: 461-466, 2011.
[PubMed: 21282593]
[Full Text: https://doi.org/10.1212/WNL.0b013e31820a0ceb]
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Cassandra L. Kniffin - updated : 3/18/2014<br>Cassandra L. Kniffin - updated : 2/10/2014<br>Cassandra L. Kniffin - updated : 12/15/2011<br>Cassandra L. Kniffin - updated : 10/13/2011<br>Cassandra L. Kniffin - updated : 5/5/2011<br>Cassandra L. Kniffin - updated : 2/4/2008<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Cassandra L. Kniffin - updated : 2/3/2004<br>Cassandra L. Kniffin - updated : 5/28/2003<br>Cassandra L. Kniffin - reorganized : 4/28/2003<br>Victor A. McKusick - updated : 1/21/2003<br>Victor A. McKusick - updated : 12/8/1999<br>Orest Hurko - updated : 11/9/1998<br>Cynthia K. Ewing - updated : 8/31/1996
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Victor A. McKusick : 6/4/1986
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