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<title>
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Entry
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- #118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
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- OMIM
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<span class="h4">#118220</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS118220"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#pathogenesis">Pathogenesis</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="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://decipher.sanger.ac.uk/syndrome/29" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14792&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="http://www.informatics.jax.org/disease/118220" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001150/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 40632002<br />
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<strong>ORPHA:</strong> 101081<br />
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<strong>DO:</strong> 0110148<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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118220
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; HMSN IA<br />
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HMSN1A<br />
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CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A<br />
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CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/244?start=-3&limit=10&highlight=244">
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17p12
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Charcot-Marie-Tooth disease, type 1A
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/118220"> 118220 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PMP22
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601097"> 601097 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/118220" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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')">
|
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS118220" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
|
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/118220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/118220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
</span>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Kyphoscoliosis may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859202</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Claw hand deformities (in severe cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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<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="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hammer toes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122481008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122481008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1136179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1136179</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001765</a>]</span><br /> -
|
|
Foot deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229844004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229844004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Peripheral Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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|
- 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 /> -
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|
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 /> -
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|
'Steppage' gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27253007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27253007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span><br /> -
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Foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6077001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6077001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735601009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735601009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2894499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2894499</a>, <a href="https://bioportal.bioontology.org/search?q=C0085684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085684</a>, <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> -
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Cold-induced muscle cramps <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003449" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003449</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003449" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003449</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 /> -
|
|
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 /> -
|
|
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
|
|
Decreased motor nerve conduction velocity (NCV) (less than 38 m/s) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836341</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 /> -
|
|
Hypertrophic nerve changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832776</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003382</a>]</span><br /> -
|
|
'Onion bulb' formations seen on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539563</a>]</span><br /> -
|
|
Segmental demyelination/remyelination seen on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003481" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003481</a>]</span><br /> -
|
|
Decreased number of myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843185&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843185</a>]</span><br /> -
|
|
Myelin outfoldings (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004336</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
|
- Onset in first or second decade<br /> -
|
|
Usually begins in feet and legs (peroneal distribution)<br /> -
|
|
Upper limb involvement usually occurs later<br /> -
|
|
Slowly progressive <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 /> -
|
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Insidious onset <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367326009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367326009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1298634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1298634</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003587</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003587</a>]</span><br /> -
|
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Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Allelic disorders with overlapping phenotypes include Dejerine-Sottas syndrome (DSS, <a href="/entry/145900">145900</a>), hereditary neuropathy with liability to pressure palsies (HNPP, <a href="/entry/162500">162500</a>), and CMT with deafness (<a href="/entry/118300">118300</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
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- Caused by mutation in the peripheral myelin protein-22 gene (PMP22, <a href="/entry/601097#0001">601097.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
|
Charcot-Marie-Tooth disease
|
|
- <a href="/phenotypicSeries/PS118220">PS118220</a>
|
|
- 82 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
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|
|
<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>
|
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</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>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
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</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>
|
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</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
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|
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<tr>
|
|
<td>
|
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<span class="mim-font">
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<a href="/geneMap/1/100?start=-3&limit=10&highlight=100"> 1p36.31 </a>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615376"> Charcot-Marie-Tooth disease, recessive intermediate C </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615376"> 615376 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611101"> PLEKHG5 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611101"> 611101 </a>
|
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</span>
|
|
</td>
|
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</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/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/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/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/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/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>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> MPZ </a>
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/131?start=-3&limit=10&highlight=131"> 2p23.3 </a>
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|
|
|
</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>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137960"> MPV17 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137960"> 137960 </a>
|
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/654?start=-3&limit=10&highlight=654"> 3q21.3 </a>
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|
|
|
</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>
|
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</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/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/8/137?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>
|
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</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>
|
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</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/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/8/351?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/8/366?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/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/10/230?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/10/260?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/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/17/244?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/17/579?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, 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/19/281?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/19/702?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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162230"> NEFH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162230"> 162230 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/177?start=-3&limit=10&highlight=177"> 22q12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616688"> Charcot-Marie-Tooth disease, axonal, type 2Z </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/616688"> 616688 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616661"> MORC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616661"> 616661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/412?start=-3&limit=10&highlight=412"> 22q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615284"> Charcot-Marie-Tooth disease, type 4B3 </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/615284"> 615284 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603560"> SBF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603560"> 603560 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/47?start=-3&limit=10&highlight=47"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> 302801 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> CMTX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> 302801 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/126?start=-3&limit=10&highlight=126"> Xp22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300905"> ?Charcot-Marie-Tooth disease, X-linked dominant, 6 </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">
|
|
<a href="/entry/300905"> 300905 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300906"> PDK3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300906"> 300906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<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">
|
|
<a href="/entry/302800"> Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 1A is caused by duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22; <a href="/entry/601097">601097</a>) on chromosome 17p12.</p><p>Deletion of the PMP22 gene characteristically results in hereditary neuropathy with liability to pressure palsies (HNPP; <a href="/entry/162500">162500</a>). Point mutations have also been described in the PMP22 gene in patients thought to have hypertrophic neuropathy of Dejerine-Sottas (<a href="/entry/145900">145900</a>).</p>
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<p>For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (<a href="/entry/118200">118200</a>).</p><p>CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (Lupski et al. (<a href="#36" class="mim-tip-reference" title="Lupski, J. R., Garcia, C. A., Parry, G. J., Patel, P. I. <strong>Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiological, and genetic aspects. In: Appel, S.: Current Neurology.</strong> Chicago: Mosby-Yearbook (pub.) 1991. Pp. 1-25."None>1991</a>, <a href="#39" class="mim-tip-reference" title="Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., Ledbetter, D. H., Greenberg, F., Patel, P. I. <strong>Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.</strong> Nature Genet. 1: 29-33, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301995</a>] [<a href="https://doi.org/10.1038/ng0492-29" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301995">1992</a>)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301995" 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="#5" class="mim-tip-reference" title="Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., Kraft, G. H. <strong>Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).</strong> Ann. Neurol. 14: 679-684, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651251</a>] [<a href="https://doi.org/10.1002/ana.410140612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6651251">Bird et al. (1983)</a> and <a href="#15" class="mim-tip-reference" title="Dyck, P. J., Ott, J., Moore, S. B., Swanson, C. J., Lambert, E. H. <strong>Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.</strong> Mayo Clin. Proc. 58: 430-435, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865476</a>]" pmid="6865476">Dyck et al. (1983)</a> reported families of typical CMT1 except that linkage to the Duffy blood group locus (Fy) on chromosome 1, where CMT1B maps, was excluded. Whereas <a href="#15" class="mim-tip-reference" title="Dyck, P. J., Ott, J., Moore, S. B., Swanson, C. J., Lambert, E. H. <strong>Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.</strong> Mayo Clin. Proc. 58: 430-435, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865476</a>]" pmid="6865476">Dyck et al. (1983)</a> could discern no phenotypic differences between the linked and unlinked forms, <a href="#5" class="mim-tip-reference" title="Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., Kraft, G. H. <strong>Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).</strong> Ann. Neurol. 14: 679-684, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651251</a>] [<a href="https://doi.org/10.1002/ana.410140612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6651251">Bird et al. (1983)</a> suggested that slowing of nerve conduction is less marked and onion bulb formation on sural nerve biopsy less conspicuous in the Duffy-unlinked form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6865476+6651251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Berciano, J., Calleja, J., Combarros, O. <strong>Charcot-Marie-Tooth disease. (Letter)</strong> Neurology 44: 1985-1986, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936269</a>] [<a href="https://doi.org/10.1212/wnl.44.10.1985-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936269">Berciano et al. (1994)</a> observed that clinically normal adult CMT1A patients are rare, but do exist. They referred to 1 duplication-positive woman who had normal neurologic examinations at least up to the age of 31 even though her motor nerve conduction velocities were 30 meters per second in the median nerve. This patient had a clinically affected 4-year-old son. <a href="#4" class="mim-tip-reference" title="Berciano, J., Calleja, J., Combarros, O. <strong>Charcot-Marie-Tooth disease. (Letter)</strong> Neurology 44: 1985-1986, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936269</a>] [<a href="https://doi.org/10.1212/wnl.44.10.1985-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936269">Berciano et al. (1994)</a> stressed the importance of doing not only neurologic examinations but also electrophysiologic studies or DNA studies to exclude the diagnosis of CMT1A. <a href="#25" class="mim-tip-reference" title="Hoogendijk, J. E., de Visser, M., Bolhuis, P. A., Hart, A. A. M., Ongerboer de Visser, B. W. <strong>Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype.</strong> Muscle Nerve 17: 85-90, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8264707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8264707</a>] [<a href="https://doi.org/10.1002/mus.880170112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8264707">Hoogendijk et al. (1994)</a> reviewed the clinical and neurographic features of 44 affected individuals, aged 8 to 68 years (mean 34 years), from 6 families with chromosome 17p duplication. Motor nerve conduction velocity and, to a lesser extent, compound muscle action potential amplitude were inversely related to clinical severity. Neither clinical severity nor NCV was significantly related to age. They interpreted the findings as suggesting that the primary pathologic process is not active, or only slightly active, after childhood. <a href="#20" class="mim-tip-reference" title="Garcia, C. A., Malamut, R. E., England, J. D., Parry, G. S., Liu, P., Lupski, J. R. <strong>Clinical variability in two pairs of identical twins with Charcot-Marie-Tooth disease type 1A duplication.</strong> Neurology 45: 2090-2093, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7501164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7501164</a>] [<a href="https://doi.org/10.1212/wnl.45.11.2090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7501164">Garcia et al. (1995)</a> found remarkable concordance of nerve conduction velocities in each of 2 pairs of male homozygotic twins with a type 1A duplication. There was also congruity between the left and right side of each twin as well as between twin brothers. However, there was marked dissimilarity in the clinical severity in each of the twin pairs, as well as asymmetric clinical involvement of each affected individual. Palpable nerve enlargement was greater in the less affected twins than in their more severely affected brothers. The marked discrepancy between nerve conduction velocities and clinical weakness suggested that other factors must be responsible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7501164+8264707+7936269" 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="#38" class="mim-tip-reference" title="Lupski, J. R., Pentao, L., Williams, L. L., Patel, P. I. <strong>Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.</strong> Am. J. Med. Genet. 45: 92-96, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8418668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8418668</a>] [<a href="https://doi.org/10.1002/ajmg.1320450122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8418668">Lupski et al. (1993)</a> studied 2 unrelated patients with both CMT1 and neurofibromatosis type I (NF1; <a href="/entry/162200">162200</a>). Since both of these disorders map to the pericentric region of chromosome 17, they investigated whether this might be a contiguous gene syndrome. In both patients, however, the CMT1A was inherited from the father, who did not have NF1. Furthermore, molecular analysis showed that the CMT1A duplication was stable in the 2 patients. One patient transmitted both disorders to her daughter. Thus, this was a chance concurrence of 2 common disorders. <a href="#9" class="mim-tip-reference" title="Bosch, E. P., Murphy, M. J., Cancilla, P. A. <strong>Peripheral neurofibromatosis and peroneal muscular atrophy.</strong> Neurology 31: 1408-1414, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796901</a>] [<a href="https://doi.org/10.1212/wnl.31.11.1408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6796901">Bosch et al. (1981)</a> had also reported the concurrence of these 2 conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6796901+8418668" 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>Pyramidal dysfunction due to compression of the cervical spinal cord by hypertrophied nerve roots, resembling radicular neurofibromas, had been reported in several individuals with type 1 Charcot-Marie-Tooth disease by <a href="#58" class="mim-tip-reference" title="Rosen, S. A., Wang, H., Cornblath, D. R., Uematsu, S., Hurko, O. <strong>Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I.</strong> Neurology 39: 1173-1177, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2771067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2771067</a>] [<a href="https://doi.org/10.1212/wnl.39.9.1173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2771067">Rosen et al. (1989)</a>. <a href="#10" class="mim-tip-reference" title="Butefisch, C., Gutmann, L., Gutmann, L. <strong>Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A.</strong> Neurology 52: 890-891, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10078755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10078755</a>] [<a href="https://doi.org/10.1212/wnl.52.4.890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10078755">Butefisch et al. (1999)</a> reported an individual with compression of the cervical spine and the cauda equina, similar to the cases described by <a href="#58" class="mim-tip-reference" title="Rosen, S. A., Wang, H., Cornblath, D. R., Uematsu, S., Hurko, O. <strong>Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I.</strong> Neurology 39: 1173-1177, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2771067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2771067</a>] [<a href="https://doi.org/10.1212/wnl.39.9.1173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2771067">Rosen et al. (1989)</a>. By demonstrating a duplication of the PMP22 gene, they confirmed that this individual had CMT1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10078755+2771067" 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="Liehr, T., Rautenstrauss, B., Grehl, H., Bathke, K. D., Ekici, A., Rauch, A., Rott, H.-D. <strong>Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.</strong> Hum. Genet. 98: 22-28, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682501</a>] [<a href="https://doi.org/10.1007/s004390050154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682501">Liehr et al. (1996)</a> identified mosaicism for the CMT1A duplication by 3 different and independent techniques. Mosaicism was supported by the clinical features of the patient. The 25-year-old woman reported painful sensations in the shoulders, which increased after exercise. She had markedly reduced motor and sensory nerve conduction velocities and showed bilateral pes cavus. She showed a mild distally pronounced muscular weakness of the arms and legs. Muscle stretch reflexes were absent. Sensory disturbances of the limbs were located distal to the elbow and knees. Vibration sense was reduced at the malleolus internus. Sural nerve biopsy showed a marked reduction of myelinated fibers with signs of demyelination and onion bulb formation. Four different tissues were investigated successfully, yielding different patterns of mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Dematteis, M., Pepin, J.-L., Jeanmart, M., Deschaux, C., Labarre-Vila, A., Levy, P. <strong>Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study.</strong> Lancet 357: 267-272, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214130</a>] [<a href="https://doi.org/10.1016/S0140-6736(00)03614-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11214130">Dematteis et al. (2001)</a> diagnosed sleep apnea (<a href="/entry/107650">107650</a>) and CMT1A in 1 family member and prospectively investigated 13 further members not previously suspected of having neuropathy or sleep apnea. Eleven of the 14 family members had the autosomal dominant demyelinating form of CMT with PMP22 gene duplication. In addition, all 11 individuals had sleep apnea syndrome with a mean apnea-hypopnea index of 46.6 per hour (28.5) of sleep (normal value less than 15 per hour). The remaining 3 family members were free from neuropathy and sleep apnea syndrome. Sleep apnea and neuropathy severity were highly correlated; the compound muscle action potential amplitude of the median nerve was inversely correlated with the apnea-hypopnea index. The severity of neuropathy and of sleep apnea was higher in male CMT individuals and correlated with age and body mass index. No wake or sleep diaphragmatic dysfunction was shown. <a href="#14" class="mim-tip-reference" title="Dematteis, M., Pepin, J.-L., Jeanmart, M., Deschaux, C., Labarre-Vila, A., Levy, P. <strong>Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study.</strong> Lancet 357: 267-272, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214130</a>] [<a href="https://doi.org/10.1016/S0140-6736(00)03614-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11214130">Dematteis et al. (2001)</a> concluded that sleep apnea syndrome is related to a pharyngeal neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214130" 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>Patients with CMT disease are particularly susceptible to vincristine neurotoxicity (<a href="#76" class="mim-tip-reference" title="Weiden, P. L., Wright, S. E. <strong>Vincristine neurotoxicity.</strong> New Eng. J. Med. 286: 1369-1370, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5027400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5027400</a>]" pmid="5027400">Weiden and Wright, 1972</a>; <a href="#23" class="mim-tip-reference" title="Griffiths, J. D., Stark, R. J., Ding, J. C., Cooper, I. A. <strong>Vincristine neurotoxicity in Charcot-Marie-Tooth syndrome.</strong> Med. J. Aust. 143: 305-306, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4046919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4046919</a>] [<a href="https://doi.org/10.5694/j.1326-5377.1985.tb123018.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4046919">Griffiths et al., 1985</a>). <a href="#47" class="mim-tip-reference" title="Naumann, R., Mohm, J., Reuner, U., Kroschinsky, F., Rautenstrauss, B., Ehninger, G. <strong>Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity.</strong> Brit. J. Haemat. 115: 323-325, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703329</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03126.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703329">Naumann et al. (2001)</a> reported a 31-year-old woman with recurrent Hodgkin lymphoma (<a href="/entry/236000">236000</a>) and unrecognized HMSN I who developed severe motor neuropathy 3 weeks after the first cycle of treatment including 2 mg of vincristine. After the fact, the patient was found to have bilateral pes cavus deformity since early childhood, contractions of ankle joints, and shortened Achilles tendons. Her brother and mother had areflexia and moderate foot deformity. The diagnosis of HMSN IA was confirmed by molecular analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11703329+5027400+4046919" 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="#69" class="mim-tip-reference" title="Swan, E. R., Fuerst, D. R., Shy, M. E. <strong>Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A.</strong> Neurology 68: 873 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17353481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17353481</a>] [<a href="https://doi.org/10.1212/01.wnl.0000256818.43819.da" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17353481">Swan et al. (2007)</a> found no differences in disability, as measured by a CMT neuropathy score, between 44 previously pregnant women with CMT1A compared to both 47 affected men or 15 affected women who had never been pregnant. Statistical analysis revealed no difference in severity between men and woman overall. Approximately 50% of women who had been pregnant noted a worsening of symptoms during pregnancy, mainly weakness, changes in balance, and alterations in sensation. Nine of these women reported a permanent worsening, and 13 felt it was temporary, lasting about 2.5 months after giving birth. However, symptom scores between these 2 groups were not significant. <a href="#69" class="mim-tip-reference" title="Swan, E. R., Fuerst, D. R., Shy, M. E. <strong>Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A.</strong> Neurology 68: 873 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17353481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17353481</a>] [<a href="https://doi.org/10.1212/01.wnl.0000256818.43819.da" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17353481">Swan et al. (2007)</a> concluded that men and women are equally disabled by CMT1A and that neither gender, pregnancy, nor plasma progesterone levels significantly contribute to the severity of neuropathy in women with CMT1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17353481" 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>The heterozygous duplications in chromosome 17 that were identified in patients with CMT1A by <a href="#26" class="mim-tip-reference" title="Hoogendijk, J. E., Hensels, G. W., Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., Janssen, E. A. M., De Jonghe, P., Martin, J.-J., Van Broeckhoven, C., Valentijn, L. J., Baas, F., de Visser, M., Bolhuis, P. A. <strong>De-novo mutation in hereditary motor and sensory neuropathy type I.</strong> Lancet 339: 1081-1082, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349106</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90668-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1349106">Hoogendijk et al. (1992)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1349106" 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 transmission pattern of CMT1A in the family reported by <a href="#71" class="mim-tip-reference" title="Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den Bosch, N. H. A., Zorn, I., Gabreels-Festen, A. A. W. M., de Visser, M., Bolhuis, P. A. <strong>Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.</strong> Nature Genet. 2: 288-291, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303281</a>] [<a href="https://doi.org/10.1038/ng1292-288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303281">Valentijn et al. (1992)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303281" 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="#40" class="mim-tip-reference" title="Matise, T. C., Chakravarti, A., Patel, P. I., Lupski, J. R., Nelis, E., Timmerman, V., Van Broeckhoven, C., Weeks, D. E. <strong>Detection of tandem duplications and implications for linkage analysis.</strong> Am. J. Hum. Genet. 54: 1110-1121, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198134</a>]" pmid="8198134">Matise et al. (1994)</a> referred to the tandem duplication underlying CMT1A as resulting in segmental trisomy. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A lie within the duplication. <a href="#40" class="mim-tip-reference" title="Matise, T. C., Chakravarti, A., Patel, P. I., Lupski, J. R., Nelis, E., Timmerman, V., Van Broeckhoven, C., Weeks, D. E. <strong>Detection of tandem duplications and implications for linkage analysis.</strong> Am. J. Hum. Genet. 54: 1110-1121, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198134</a>]" pmid="8198134">Matise et al. (1994)</a> demonstrated that the undetected presence of a duplication distorts transmission ratios, hampers fine localization of the disease gene, and increases false evidence of linkage heterogeneity. They devised a likelihood-based method for detecting the presence of a tandemly duplicated marker when one is suspected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198134" 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="#61" class="mim-tip-reference" title="Schiavon, F., Mostacciuolo, M. L., Saad, F., Merlini, L., Siciliano, G., Angelini, C., Danieli, G. A. <strong>Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.</strong> J. Med. Genet. 31: 880-883, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7853375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7853375</a>] [<a href="https://doi.org/10.1136/jmg.31.11.880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7853375">Schiavon et al. (1994)</a> devised a rapid, informative, economical, and easily interpretable nonradioactive test for detection of the CMT1A duplication based on a microsatellite polymorphism. They found the CMT1A duplication in 76% of 56 unrelated patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7853375" 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="King, P. H., Waldrop, R., Lupski, J. R., Shaffer, L. G. <strong>Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.</strong> Clin. Genet. 54: 413-416, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9842994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9842994</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb03755.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9842994">King et al. (1998)</a> described a patient with CMT1A caused by duplication of the PMP22 gene through an unusual mechanism: unbalanced translocation of 17p to the X chromosome. This finding further supported the hypothesis of gene dosage as the basis of CMT1A. The case highlighted the importance of fluorescence in situ hybridization as an alternative molecular technique in the diagnosis of CMT1A. The duplication would not have been detected by standard commercial methods based on identification of a novel junction fragment by pulsed field gel electrophoresis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9842994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Aarskog, N. K., Vedeler, C. A. <strong>Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.</strong> Hum. Genet. 107: 494-498, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140948</a>] [<a href="https://doi.org/10.1007/s004390000399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140948">Aarskog and Vedeler (2000)</a> described a quantitative PCR method for detecting both duplication and deletion of the PMP22 gene in CMT1A and HNPP, respectively. Their method of real-time quantitative PCR is a sensitive, specific, and reproducible method allowing 13 patients to be diagnosed in 2 hours. It involves no radioisotopes and requires no post-PCR handling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140948" 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="#60" class="mim-tip-reference" title="Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E. <strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong> Ann. Neurol. 69: 22-33, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280073</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21280073[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.22166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21280073">Saporta et al. (2011)</a> were able to find a molecular basis for 527 (67%) of 787 patients with a clinical diagnosis of CMT. The most common CMT subtypes were CMT1A in 55%, CMT1X (<a href="/entry/302800">302800</a>) in 15.2%, HNPP (<a href="/entry/162500">162500</a>) in 9.1%, CMT1B (<a href="/entry/118200">118200</a>) in 8.5%, and CMT2A2 (<a href="/entry/609260">609260</a>) in 4.0%. All other subtypes accounted for less than 1% each. Eleven patients had more than 1 genetically identified subtype of CMT. Patients with genetically identified CMT were separable into specific groups based on age of onset and the degree of slowing of motor nerve conduction velocities. <a href="#60" class="mim-tip-reference" title="Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E. <strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong> Ann. Neurol. 69: 22-33, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280073</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21280073[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.22166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21280073">Saporta et al. (2011)</a> concluded that combining features of the phenotype and physiology allowed for identification of patients with specific subtypes of CMT, and proposed a strategy of focused genetic testing for CMT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21280073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a double-blind, randomized, placebo-controlled pilot study, <a href="#59" class="mim-tip-reference" title="Sahenk, Z., Nagaraja, H. N., McCracken, B. S., King, W. M., Freimer, M. L., Cedarbaum, J. M., Mendell, J. R. <strong>NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients.</strong> Neurology 65: 681-689, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157899</a>] [<a href="https://doi.org/10.1212/01.wnl.0000171978.70849.c5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16157899">Sahenk et al. (2005)</a> found that subcutaneous administration of the nerve growth factor neurotrophin-3 (NT3; <a href="/entry/162660">162660</a>) promoted peripheral nerve regeneration and sensory improvement in 4 patients with CMT1A compared to 4 untreated patients. Similar results were observed for 2 mouse models of CMT: 1 with the common PMP22 duplication and 1 with a PMP22 point mutation. <a href="#59" class="mim-tip-reference" title="Sahenk, Z., Nagaraja, H. N., McCracken, B. S., King, W. M., Freimer, M. L., Cedarbaum, J. M., Mendell, J. R. <strong>NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients.</strong> Neurology 65: 681-689, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157899</a>] [<a href="https://doi.org/10.1212/01.wnl.0000171978.70849.c5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16157899">Sahenk et al. (2005)</a> concluded that NT3 improved mutant Schwann cell survival and differentiation, resulting in increases in the available Schwann cell pool, which in turn increased the number of myelinated fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16157899" 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="#62" class="mim-tip-reference" title="Selles, R. W., van Ginneken, B. T. J., Schreuders, T. A. R., Janssen, W. G. M., Stam, H. J. <strong>Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease.</strong> Neurology 67: 2022-2027, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159111</a>] [<a href="https://doi.org/10.1212/01.wnl.0000247272.96136.16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17159111">Selles et al. (2006)</a> reported that the Rotterdam Intrinsic Hand Myometer (RIHM) demonstrated excellent reliability in the measurement of intrinsic hand muscle strength in patients with CMT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17159111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#64" class="mim-tip-reference" title="Shy, M. E., Chen, L., Swan, E. R., Taube, R., Krajewski, K. M., Herrmann, D., Lewis, R. A., McDermott, M. P. <strong>Neuropathy progression in Charcot-Marie-Tooth disease type 1A.</strong> Neurology 70: 378-383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18227419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18227419</a>] [<a href="https://doi.org/10.1212/01.wnl.0000297553.36441.ce" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18227419">Shy et al. (2008)</a> reported use of the 'CMT Neuropathy Score' (CMTNS) and the 'Neuropathy Impairment Score' (NIS) to determine the rate of disease progression in patients with CMT1A over time. The scoring systems could be used to monitor disease progression and standardize the efficacy of certain treatments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18227419" 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="#75" class="mim-tip-reference" title="Videler, A. J., van Dijk, J. P., Beelen, A., de Visser, M., Nollet, F., van Schaik, I. N. <strong>Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a.</strong> Neurology 71: 1254-1260, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18852440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18852440</a>] [<a href="https://doi.org/10.1212/01.wnl.0000327643.05073.eb" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18852440">Videler et al. (2008)</a> presented evidence that loss of motor axons is the major cause of hand dysfunction in patients with CMT1A. Evaluation of fine motor skills of the hand in 48 patients with CMT1A showed a correlation between decreased pinch strength, clawing of the fingers, and decreased manual dexterity, and motor axon loss as measured by compound muscle action potentials and motor unit number estimation. There was no significant correlation between motor and sensory impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18852440" 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>Middleton-Price et al. (<a href="#45" class="mim-tip-reference" title="Middleton-Price, H. R., Harding, A. E., Monteiro, C. J., Berciano, J., Malcolm, S. <strong>Linkage of hereditary motor and sensory neuropathy type I (HMSNI) to the pericentromeric region of chromosome 17. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1044, 1989."None>1989</a>, <a href="#44" class="mim-tip-reference" title="Middleton-Price, H. R., Harding, A. E., Monteiro, C., Berciano, J., Malcolm, S. <strong>Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.</strong> Am. J. Hum. Genet. 46: 92-94, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2294757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2294757</a>]" pmid="2294757">1990</a>), <a href="#48" class="mim-tip-reference" title="Nicholson, G. A., Mesterovic, N., Ross, D. A., Block, J., McLeod, J. G. <strong>Linkage of the gene for Charcot-Marie-Tooth neuropathy. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1052-1053, 1989."None>Nicholson et al. (1989)</a>, and <a href="#73" class="mim-tip-reference" title="Vance, J. M., Nicholson, G., Yamaoka, L. H., Stajich, J., Stewart, C. S., Speer, C., Hung, W.-Y., Roses, A. D., Barker, D., Gaskell, P. C., Pericak-Vance, M. A. <strong>Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1097-1098, 1989."None>Vance et al. (1989)</a> presented evidence that one form of Charcot-Marie-Tooth disease is determined by a mutation on chromosome 17. In all 3 reports, high lod scores were obtained for linkage to D17S58 and D17S71. The disorder mapping to chromosome 17 was referred to as Charcot-Marie-Tooth disease type 1A or hereditary motor and sensory neuropathy type I (HMSN I). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2294757" 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 studies of 7 families, Chance et al. (<a href="#11" class="mim-tip-reference" title="Chance, P. F., Bird, T. D., Atkinson, D., O'Connell, P., Leppert, M., Lipe, H., Ketting, R., Lalouel, J.-M., White, R. W. <strong>Linkage evidence for genetic heterogeneity in type I Charcot-Marie-Tooth neuropathy. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A135, 1989."None>1989</a>, <a href="#12" class="mim-tip-reference" title="Chance, P. F., Bird, T. D., O'Connell, P., Lipe, H., Lalouel, J.-M., Leppert, M. <strong>Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).</strong> Am. J. Hum. Genet. 47: 915-925, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2239969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2239969</a>]" pmid="2239969">1990</a>) found a high probability of linkage to chromosome 17 markers in 5. Of the other 2, linkage to the Duffy blood group was suggested in 1 and excluded in the other. In the 2 families that did not show linkage to chromosome 17, the disease was more severe than in the chromosome 17 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2239969" 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 multigenerational family in Belgium, <a href="#55" class="mim-tip-reference" title="Raeymaekers, P., Timmerman, V., De Jonghe, P., Swerts, L., Gheuens, J., Martin, J.-J., Muylle, L., De Winter, G., Vandenberghe, A., Van Broeckhoven, C. <strong>Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).</strong> Am. J. Hum. Genet. 45: 953-958, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2589322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2589322</a>]" pmid="2589322">Raeymaekers et al. (1989)</a> excluded chromosome 1 as the site of the mutation and demonstrated linkage to D17S58 and D17S71. By further linkage studies in this family, <a href="#70" class="mim-tip-reference" title="Timmerman, V., Raeymaekers, P., De Jonghe, P., De Winter, G., Swerts, L., Jacobs, K., Gheuens, J., Martin, J.-J., Vandenberghe, A., Van Broeckhoven, C. <strong>Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.</strong> Am. J. Hum. Genet. 47: 680-685, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2220808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2220808</a>]" pmid="2220808">Timmerman et al. (1990)</a> demonstrated that the CMT1A gene is located in the chromosomal region 17p12-p11.2 between marker D17S71 and the gene for myosin heavy chain polypeptide-2 of adult skeletal muscle (MYH2; <a href="/entry/160740">160740</a>). In a large French-Acadian kindred, <a href="#51" class="mim-tip-reference" title="Patel, P. I., Franco, B., Garcia, C., Slaugenhaupt, S. A., Nakamura, Y., Ledbetter, D. H., Chakravarti, A., Lupski, J. R. <strong>Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.</strong> Am. J. Hum. Genet. 46: 801-809, 1990. Note: Erratum: Am. J. Hum. Genet. 47: 172 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2316525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2316525</a>]" pmid="2316525">Patel et al. (1990)</a> confirmed the localization of CMT1A to the pericentromeric region of chromosome 17. <a href="#41" class="mim-tip-reference" title="McAlpine, P. J., Feasby, T. E., Hahn, A. F., Komarnicki, L., James, S., Guy, C., Dixon, M., Qayyum, S., Wright, J., Coopland, G., Lewis, M., Kaita, H., Philipps, S., Wong, P., Koopman, W., Cox, D. W., Yee, W. C. <strong>Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.</strong> Genomics 7: 408-415, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365358</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90175-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365358">McAlpine et al. (1990)</a> provided linkage data on 5 Caucasian families which excluded linkage of CMT1A to the Fy area of chromosome 1 and demonstrated close linkage to D17S58, located at 17p11.2-p11.1; maximum lod = 10.828 at theta = 0.0. The CMT1A locus appeared to be proximal to MYH2, which maps to 17p13. By differential Alu-PCR of a rodent-human hybrid cell containing only chromosome 17 and a rodent-human cell containing only chromosome 17 with a deletion of the p11.2 band, <a href="#52" class="mim-tip-reference" title="Patel, P. I., Garcia, C., Montes de Oca-Luna, R., Malamut, R. I., Franco, B., Slaugenhaupt, S., Chakravarti, A., Lupski, J. R. <strong>Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.</strong> Am. J. Hum. Genet. 47: 926-934, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1978559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1978559</a>]" pmid="1978559">Patel et al. (1990)</a> isolated a marker that showed linkage to CMT1A with a peak lod score of 3.41 at a recombination fraction of 0.12. By multipoint linkage analysis, <a href="#72" class="mim-tip-reference" title="Vance, J. M., Barker, D., Yamaoka, L. H., Stajich, J. M., Loprest, L., Hung, W.-Y., Fischbeck, K., Roses, A. D., Pericak-Vance, M. A. <strong>Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.</strong> Genomics 9: 623-628, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674726</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90355-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674726">Vance et al. (1991)</a> localized the CMT1A gene to 17p11.2 and identified flanking DNA markers. <a href="#33" class="mim-tip-reference" title="Lebo, R. V., Lynch, E. D., Bird, T. D., Golbus, M. S., Barker, D. F., O'Connell, P., Chance, P. F. <strong>Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type 1 (CMT1A) gene-region markers.</strong> Am. J. Hum. Genet. 50: 42-55, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729894</a>]" pmid="1729894">Lebo et al. (1992)</a> studied the order of markers in the region of the CMT1A gene by means of multicolor in situ hybridization which they showed could resolve loci within 0.5 Mb on early-metaphase chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2365358+2589322+2316525+1674726+1978559+2220808+1729894" 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><strong><em>Common 1.5-Mb Duplication on Chromosome 17p12-p11</em></strong></p><p>
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See <a href="/entry/601097#0001">601097.0001</a> for discussion of the work of <a href="#36" class="mim-tip-reference" title="Lupski, J. R., Garcia, C. A., Parry, G. J., Patel, P. I. <strong>Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiological, and genetic aspects. In: Appel, S.: Current Neurology.</strong> Chicago: Mosby-Yearbook (pub.) 1991. Pp. 1-25."None>Lupski et al. (1991)</a> and others indicating that a DNA duplication on chromosome 17 in the p12-p11.2 region is frequently the basis of CMT1A.</p><p><a href="#26" class="mim-tip-reference" title="Hoogendijk, J. E., Hensels, G. W., Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., Janssen, E. A. M., De Jonghe, P., Martin, J.-J., Van Broeckhoven, C., Valentijn, L. J., Baas, F., de Visser, M., Bolhuis, P. A. <strong>De-novo mutation in hereditary motor and sensory neuropathy type I.</strong> Lancet 339: 1081-1082, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349106</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90668-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1349106">Hoogendijk et al. (1992)</a> found that 9 of 10 sporadic patients had the duplication in chromosome 17 as a de novo change. <a href="#24" class="mim-tip-reference" title="Hertz, J. M., Borglum, A. D., Brandt, C. A., Flint, T., Bisgaard, C. <strong>Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.</strong> Clin. Genet. 46: 291-294, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7834893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7834893</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04162.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7834893">Hertz et al. (1994)</a> also demonstrated that a sporadic case of CMT1A was due to de novo duplication of the 17p12-p11.2 region. In all 12 de novo CMT1A duplications reported to that time, the duplication was of paternal origin. <a href="#65" class="mim-tip-reference" title="Sorour, E., Thompson, P., MacMillan, J., Upadhyaya, M. <strong>Inheritance of CMT1A duplication from a mosaic father.</strong> J. Med. Genet. 32: 483-485, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7666403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7666403</a>] [<a href="https://doi.org/10.1136/jmg.32.6.483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7666403">Sorour et al. (1995)</a> described a case of CMT1A with molecular duplication of 17p12-p11.2 and inheritance of the duplication from a mosaic father. Whereas the patient had typical clinical features, the father had minimal findings of CMT1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7834893+7666403+1349106" 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>To investigate the frequency of de novo CMT1A duplications, <a href="#6" class="mim-tip-reference" title="Blair, I. P., Nash, J., Gordon, M. J., Nicholson, G. A. <strong>Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.</strong> Am. J. Hum. Genet. 58: 472-476, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644705</a>]" pmid="8644705">Blair et al. (1996)</a> examined 118 duplication-positive CMT1A families. In 10 of these families it was demonstrated that the disease had arisen as the result of a de novo mutation. They estimated that 10% or more of autosomal dominant CMT1 families are due to de novo duplications. Using polymorphic markers from within the duplicated region, they showed that 7 of the duplications were of paternal and 1 of maternal origin. This was the first report of a de novo duplication of maternal origin. <a href="#8" class="mim-tip-reference" title="Bort, S., Martinez, F., Palau, F. <strong>Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. (Letter)</strong> Am. J. Hum. Genet. 60: 230-233, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981968</a>]" pmid="8981968">Bort et al. (1997)</a> reported that the prevalence of de novo mutation in duplication-positive CMTA1 families was 18.3%. They reported that the ratio of maternal to paternal origin of the duplication was 1:8 in their study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8981968+8644705" 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="#77" class="mim-tip-reference" title="Weterman, M. A. J., van Ruissen, F., de Wissel, M., Bordewijk, L., Samijn, J. P. A., van der Pol, W. L., Meggouh, F., Baas, F. <strong>Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.</strong> Europ. J. Hum. Genet. 18: 421-428, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888301[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888301">Weterman et al. (2010)</a> identified a heterozygous 186-kb deletion on chromosome 17p12 with breakpoints within the common 1.5-Mb duplication but not involving the PMP22 gene in 6 probands with CMT1A. The duplication segregated with the disorder in 2 families and was absent in more than 2,000 control chromosomes. Haplotype analysis of 2 families suggested a founder effect. The junction breakpoints were located in a repeat-rich region, located 90-kb from the proximal CMT repeat region on 1 side and 3-kb upstream of PMP22 between PMP22 and TEKT3 (<a href="/entry/612683">612683</a>) on the other side. The junctions created by this duplication were located outside of any known genes or open reading frames, and there was no indication for the involvement of genes located within the duplication. <a href="#77" class="mim-tip-reference" title="Weterman, M. A. J., van Ruissen, F., de Wissel, M., Bordewijk, L., Samijn, J. P. A., van der Pol, W. L., Meggouh, F., Baas, F. <strong>Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.</strong> Europ. J. Hum. Genet. 18: 421-428, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888301[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888301">Weterman et al. (2010)</a> postulated that this duplication affects PMP22 expression levels through an as yet unidentified mechanism. <a href="#77" class="mim-tip-reference" title="Weterman, M. A. J., van Ruissen, F., de Wissel, M., Bordewijk, L., Samijn, J. P. A., van der Pol, W. L., Meggouh, F., Baas, F. <strong>Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.</strong> Europ. J. Hum. Genet. 18: 421-428, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888301[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888301">Weterman et al. (2010)</a> noted that the 186-kb duplication would not be detected in most diagnostic assays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19888301" 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>Point Mutations in the PMP22 Gene</em></strong></p><p>
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In a Dutch kindred with CMT1A, <a href="#71" class="mim-tip-reference" title="Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den Bosch, N. H. A., Zorn, I., Gabreels-Festen, A. A. W. M., de Visser, M., Bolhuis, P. A. <strong>Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.</strong> Nature Genet. 2: 288-291, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303281</a>] [<a href="https://doi.org/10.1038/ng1292-288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303281">Valentijn et al. (1992)</a> identified a point mutation in the PMP22 gene (<a href="/entry/601097#0002">601097.0002</a>). Thus, either duplication or point mutation in the PMP22 gene can result in CMT1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303281" 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="Fabrizi, G. M., Cavallaro, T., Taioli, F., Orrico, D., Morbin, M., Simonati, A., Rizzuto, N. <strong>Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.</strong> Neurology 53: 846-851, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10489052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10489052</a>] [<a href="https://doi.org/10.1212/wnl.53.4.846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10489052">Fabrizi et al. (1999)</a> reported a family in which 4 individuals over 4 generations had severe CMT1A with focal myelin thickenings with a regular fusiform contour (tomacula) or a coarsely granular appearance. Ultrastructural examination disclosed uncompacted myelin and redundant irregular myelin loops. All affected patients had a heterozygous mutation in the PMP22 gene (<a href="/entry/601097#0016">601097.0016</a>). <a href="#17" class="mim-tip-reference" title="Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N. <strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49-to-leu in the myelin protein zero.</strong> Acta Neuropath. 100: 299-304, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>] [<a href="https://doi.org/10.1007/s004019900175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10965800">Fabrizi et al. (2000)</a> noted that myelin outfoldings have been described in other autosomal dominant CMT patients with mutations in MPZ (<a href="/entry/159440#0023">159440.0023</a>), EGR2 (<a href="/entry/129010#0004">129010.0004</a>), and PMP22, and that the finding is not restricted to CMT4B (see CMT4B1; <a href="/entry/601382">601382</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10965800+10489052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K. <strong>A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.</strong> Neurogenetics 5: 171-175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15205993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15205993</a>] [<a href="https://doi.org/10.1007/s10048-004-0184-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15205993">Kleopa et al. (2004)</a> reported a family from Cyprus in which 4 affected individuals had features of HNPP and/or CMT1A. One patient presented with typical HNPP, which later progressed to severe CMT1, 2 patients had HNPP with features of CMT1, and 1 patient had a chronic asymptomatic CMT1 phenotype. All 4 patients had the same heterozygous point mutation in the PMP22 gene (<a href="/entry/601457#0019">601457.0019</a>). <a href="#32" class="mim-tip-reference" title="Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K. <strong>A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.</strong> Neurogenetics 5: 171-175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15205993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15205993</a>] [<a href="https://doi.org/10.1007/s10048-004-0184-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15205993">Kleopa et al. (2004)</a> emphasized the broad phenotypic spectrum resulting from mutations in the PMP22 gene, as well as the phenotypic overlap of HNPP and CMT1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15205993" 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="#67" class="mim-tip-reference" title="Suter, U., Patel, P. I. <strong>Genetic basis of inherited peripheral neuropathies.</strong> Hum. Mutat. 3: 95-102, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7515304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7515304</a>] [<a href="https://doi.org/10.1002/humu.1380030203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7515304">Suter and Patel (1994)</a> reviewed and discussed the curious finding that gene dosage and point mutations affecting the same gene can lead to a similar phenotype. They pointed to a possibly identical situation with Pelizaeus-Merzbacher disease (<a href="/entry/312080">312080</a>) in which either deletion of the entire locus encoding proteolipid protein (PLP1) (<a href="#56" class="mim-tip-reference" title="Raskind, W. H., Williams, C. A., Hudson, L. D., Bird, T. D. <strong>Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.</strong> Am. J. Hum. Genet. 49: 1355-1360, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1720927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1720927</a>]" pmid="1720927">Raskind et al., 1991</a>), as described in <a href="/entry/300401#0006">300401.0006</a>, or duplication of the PLP1 locus (<a href="#13" class="mim-tip-reference" title="Cremers, F. P. M., Pfeiffer, R. A., van de Pol, T. J. R., Hofker, M. H., Kruse, T. A., Wieringa, B., Ropers, H. H. <strong>An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.</strong> Hum. Genet. 77: 23-27, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3476455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3476455</a>] [<a href="https://doi.org/10.1007/BF00284707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3476455">Cremers et al., 1987</a>) can cause Pelizaeus-Merzbacher disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3476455+1720927+7515304" 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="#18" class="mim-tip-reference" title="Gabreels-Festen, A. A. W. M., Bolhuis, P. A., Hoogendijk, J. E., Valentijn, L. J., Eshuis, E. J. H. M., Gabreels, F. J. M. <strong>Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication event versus PMP22 point mutations.</strong> Acta Neuropath. 90: 645-649, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8615087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8615087</a>] [<a href="https://doi.org/10.1007/BF00318579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8615087">Gabreels-Festen et al. (1995)</a> compared the histology of peripheral nerve in patients with duplication of the PMP22 gene to those with point mutations. In the duplication cases, onion bulbs developed gradually in the first years of life, and the ratio of the axon diameter versus the fiber diameter was significantly lower than normal. In contrast, in patients with point mutations in PMP22, nearly all myelinated fibers had a high ratio of axon diameter versus fiber diameter, and onion bulbs were abundant from an early age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8615087" 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="#53" class="mim-tip-reference" title="Pellegrino, J. E., Pellegrino, L., Spinner, N. B., Sladky, J., Chance, P. F., Zackai, E. H. <strong>Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.</strong> Am. J. Med. Genet. 61: 377-381, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834051</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834051">Pellegrino et al. (1996)</a> illustrated how it is possible in some instances to determine the genetic basis of clinical features in chromosomal rearrangements. They reported a child with monosomy 10q and dup(17p) resulting from an apparently balanced maternal translocation t(10;17)(q26.3;p11.2). Manifestations of both the duplication and the monosomy were present; however, the overall development was better than that previously reported in either syndrome. The patient's motor development was significantly more impaired than cognitive development, and signs of a peripheral neuropathy were found and attributed to duplication of 17p. Indeed, the patient was found to be trisomic for the PMP22 gene resulting in demyelinating neuropathy. An elevated serum alpha-fetoprotein had been detected at 16 weeks of gestation. The infant showed bilateral inguinal hernias and hydroceles at birth, and echocardiogram demonstrated ventriculoseptal defect (VSD) and bicuspid aortic valve. There was gastroesophageal reflux requiring Nissen fundoplication with gastrostomy tube. The VSD closed spontaneously. Hypoplastic corpus callosum was demonstrated by MRI. Terminal deletions of 10q had been reported in 26 patients, resulting in a definite phenotype (<a href="#78" class="mim-tip-reference" title="Wulfsberg, E. A., Weaver, R. P., Cunniff, C. M., Jones, M. C., Jones, K. L. <strong>Chromosome 10qter deletion syndrome: a review and report of three new cases.</strong> Am. J. Med. Genet. 32: 364-367, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658586</a>] [<a href="https://doi.org/10.1002/ajmg.1320320319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2658586">Wulfsberg et al., 1989</a>). The manifestations included postnatal growth retardation, microcephaly, downslanting palpebral fissures, clinodactyly, syndactyly, congenital heart disease, and urogenital anomalies, all of which were present in the patient reported by <a href="#53" class="mim-tip-reference" title="Pellegrino, J. E., Pellegrino, L., Spinner, N. B., Sladky, J., Chance, P. F., Zackai, E. H. <strong>Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.</strong> Am. J. Med. Genet. 61: 377-381, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834051</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834051">Pellegrino et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8834051+2658586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Gouvea, S. P., Borghetti, V. H. S., Bueno, K. C., Genari, A. B., Lourenco, C. M., Sobreira, C., Barreira, A. A., Marques, W., Jr. <strong>Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.</strong> Neurogenetics 11: 135-138, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19705173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19705173</a>] [<a href="https://doi.org/10.1007/s10048-009-0211-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19705173">Gouvea et al. (2010)</a> reported an unusual case of a father and daughter with CMT who had 2 mutations in the PMP22 gene: the common 1.4-Mb duplication and S72L (<a href="/entry/601097#0007">601097.0007</a>). Restriction analysis indicated that the S72L mutation was only present in 1 of the 3 PMP22 genes for both father and daughter. Both patients had a relatively mild form of the disease, manifest mainly as generalized pain without significant motor or sensory defects. The findings suggested that presence of 2 mutations in the PMP22 gene results in an attenuated form of the disease rather than a more severe form. <a href="#21" class="mim-tip-reference" title="Gouvea, S. P., Borghetti, V. H. S., Bueno, K. C., Genari, A. B., Lourenco, C. M., Sobreira, C., Barreira, A. A., Marques, W., Jr. <strong>Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.</strong> Neurogenetics 11: 135-138, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19705173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19705173</a>] [<a href="https://doi.org/10.1007/s10048-009-0211-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19705173">Gouvea et al. (2010)</a> hypothesized that the increased dosage resulting from the 1.4-Mb duplication offset the toxic gain-of-function effects of the S72L mutation on intracellular trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19705173" 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 2 unrelated patients with a severe form of CMT1A, <a href="#35" class="mim-tip-reference" title="Liu, P., Gelowani, V., Zhang, F., Drory, V. E., Ben-Shachar, S., Roney, E., Medeiros, A. C., Moore, R. J., DiVincenzo, C., Burnette, W. B., Higgins, J. J., Li, J., Orr-Urtreger, A., Lupski, J. R. <strong>Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.</strong> Am. J. Hum. Genet. 94: 462-469, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530202[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530202">Liu et al. (2014)</a> identified a 1.4-Mb triplication of the PMP22 gene (<a href="/entry/601097#0022">601097.0022</a>). Each individual was part of a family with autosomal dominant CMT1A in which the other affected family members had the common 1.4-Mb duplication and a more typical CMT1A phenotype that was less severe. In both families, molecular analysis of the triplication indicated that it occurred on the chromosome with the duplication and arose from the duplication during meiosis in the affected mother. Haplotype analysis indicated 2 different mechanisms: in 1 family, the triplication arose via intrachromosomal nonallelic homologous recombination (NAHR), whereas in the other family it arose from intrachromosomal NAHR followed by a gene-conversion event that most likely exchanged alleles between the maternal homologous chromosomes. A review of a database for CMT1A duplication testing identified 13% with duplication and 0.024% with a duplication-to-triplication event. These findings suggested that the rate of duplication to triplication is higher than that of de novo duplication. <a href="#35" class="mim-tip-reference" title="Liu, P., Gelowani, V., Zhang, F., Drory, V. E., Ben-Shachar, S., Roney, E., Medeiros, A. C., Moore, R. J., DiVincenzo, C., Burnette, W. B., Higgins, J. J., Li, J., Orr-Urtreger, A., Lupski, J. R. <strong>Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.</strong> Am. J. Hum. Genet. 94: 462-469, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530202[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530202">Liu et al. (2014)</a> proposed that individuals with duplications are predisposed to acquiring triplications and that the population prevalence of triplication may be underestimated. The inheritance pattern in this scenario resembles genetic anticipation and has implications for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24530202" 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="#28" class="mim-tip-reference" title="Katona, I., Wu, X., Feely, S. M., Sottile, S., Siskind, C. E., Miller, L. J., Shy, M. E., Li, J. <strong>PMP22 expression in dermal nerve myelin from patients with CMT1A.</strong> Brain 132: 1734-1740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19447823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19447823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19447823[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awp113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19447823">Katona et al. (2009)</a> found highly variable levels of PMP22 protein, ranging from below normal to above normal, in skin biopsies from 20 patients with CMT1A due to the common 1.4-Mb duplication in the PMP22 gene. The findings were somewhat surprising, since an overall increase in PMP22 gene expression and protein was expected. In addition, there was no correlation between PMP22 mRNA or protein levels and phenotypic severity in CMT1A. In contrast, 6 individuals with HNPP (<a href="/entry/162500">162500</a>) due to the reciprocal PMP22 deletion had similarly decreased PMP22 levels. <a href="#28" class="mim-tip-reference" title="Katona, I., Wu, X., Feely, S. M., Sottile, S., Siskind, C. E., Miller, L. J., Shy, M. E., Li, J. <strong>PMP22 expression in dermal nerve myelin from patients with CMT1A.</strong> Brain 132: 1734-1740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19447823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19447823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19447823[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awp113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19447823">Katona et al. (2009)</a> noted that PMP22 levels are tightly coordinated in the normal state, and that about 90% of translated PMP22 is rapidly degraded and never inserted into myelin (<a href="#49" class="mim-tip-reference" title="Pareek, S,, Notterpek, L., Snipes, G. J., Naef, R., Sossin, W., Laliberte, J., Iacampo, S., Suter, U., Shooter, E. M., Murphy, R. A. <strong>Neurons promote the translocation of peripheral myelin protein 22 into myelin.</strong> J. Neurosci. 17: 7754-7762, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9315897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9315897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9315897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.17-20-07754.1997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9315897">Pareek et al., 1997</a>). <a href="#28" class="mim-tip-reference" title="Katona, I., Wu, X., Feely, S. M., Sottile, S., Siskind, C. E., Miller, L. J., Shy, M. E., Li, J. <strong>PMP22 expression in dermal nerve myelin from patients with CMT1A.</strong> Brain 132: 1734-1740, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19447823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19447823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19447823[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awp113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19447823">Katona et al. (2009)</a> hypothesized that dysregulation and variability of PMP22 expression may cause CMT1A, but noted that the disorder cannot result simply from a loss of normal function, since the phenotypes of CMT1A and HNPP are so different. The findings indicated that phenotypic variability in CMT1A cannot be explained by PMP22 levels in myelin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19447823+9315897" 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="#39" class="mim-tip-reference" title="Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., Ledbetter, D. H., Greenberg, F., Patel, P. I. <strong>Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.</strong> Nature Genet. 1: 29-33, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301995</a>] [<a href="https://doi.org/10.1038/ng0492-29" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301995">Lupski et al. (1992)</a> stated that CMT in all of its forms is the most common inherited peripheral neuropathy in humans, with a total prevalence rate of 1 in 2,500. In a series of 172 index cases of Italian families in which there was at least 1 subject with CMT1, <a href="#46" class="mim-tip-reference" title="Mostacciuolo, M. L., Righetti, E., Zortea, M., Bosello, V., Schiavon, F., Vallo, L., Merlini, L., Siciliano, G., Fabrizi, G. M., Rizzuto, N., Milani, M., Baratta, S., Taroni, F. <strong>Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.</strong> Hum. Mutat. 18: 32-41, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438991</a>] [<a href="https://doi.org/10.1002/humu.1147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438991">Mostacciuolo et al. (2001)</a> found that among 170 informative unrelated patients, the frequency of the chromosome 17 duplication was 57.6%. A difference was observed between the duplication frequency in familial (71.6%) as opposed to nonfamilial cases (36.8%). Among the patients without the duplication, 2 had mutations in the PMP22 gene, 12 in the GJB1 gene (<a href="/entry/304040">304040</a>), 4 in the MPZ gene (<a href="/entry/159440">159440</a>), and none in the EGR2 gene (<a href="/entry/129010">129010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11438991+1301995" 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>Among 153 unrelated patients with CMT, <a href="#7" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong> Ann. Neurol. 51: 190-201, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>] [<a href="https://doi.org/10.1002/ana.10089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835375">Boerkoel et al. (2002)</a> found that 79 had a PMP22 duplication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11835375" 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 1.5-Mb duplication of PMP22 is the predominant cause of autosomal dominant CMT1, accounting for approximately 70% of all cases (<a href="#57" class="mim-tip-reference" title="Reilly, M. M. <strong>Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!</strong> Neurology 65: 186-187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043782</a>] [<a href="https://doi.org/10.1212/01.wnl.0000173904.97549.94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16043782">Reilly, 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043782" 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>Among 227 Japanese patients with demyelinating CMT, <a href="#2" class="mim-tip-reference" title="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://doi.org/10.1038/jhg.2011.20" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21326314">Abe et al. (2011)</a> found that 53 (23.3%) carried PMP22 duplications and 10 (4.4%) carried PMP22 mutations. These were the most common genetic causes of demyelinating CMT, but the frequency of duplications was less than that observed in Caucasian populations. A molecular basis for demyelinating CMT could not be identified in 111 Japanese patients. <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>
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<p>In a review of hereditary motor and sensory neuropathies, <a href="#74" class="mim-tip-reference" title="Vance, J. M. <strong>Hereditary motor and sensory neuropathies.</strong> J. Med. Genet. 28: 1-5, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999826</a>] [<a href="https://doi.org/10.1136/jmg.28.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999826">Vance (1991)</a> pointed to the autosomal dominant 'Trembler' mutation (Tr) in the mouse as a possibly homologous condition. A hypomyelin neuropathy with onion bulb formation develops in older animals. Because of the extensive homology of synteny between mouse 11 and human 17 (<a href="#22" class="mim-tip-reference" title="Green, M. C. <strong>Genetic variants and strains of the laboratory mouse.</strong> New York: Oxford Univ. Press (pub.) 1989."None>Green, 1989</a>), it is particularly attractive to think that these may be fundamentally the same disorder. In 2 allelic forms of the Trembler mouse, Suter et al. (<a href="#66" class="mim-tip-reference" title="Suter, U., Moskow, J. J., Welcher, A. A., Snipes, G. J., Kosaras, B., Sidman, R. L., Buchberg, A. M., Shooter, E. M. <strong>A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.</strong> Proc. Nat. Acad. Sci. 89: 4382-4386, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1374899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1374899</a>] [<a href="https://doi.org/10.1073/pnas.89.10.4382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1374899">1992</a>, <a href="#68" class="mim-tip-reference" title="Suter, U., Welcher, A. A., Ozcelik, T., Snipes, G. J., Kosaras, B., Francke, U., Billings-Gagliardi, S., Sidman, R. L., Shooter, E. M. <strong>Trembler mouse carries a point mutation in a myelin gene.</strong> Nature 356: 241-244, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552943</a>] [<a href="https://doi.org/10.1038/356241a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552943">1992</a>) demonstrated point mutations in 2 distinct putative membrane-associated domains of a potentially growth-regulated 22-kD protein, peripheral myelin protein-22 (Pmp22). PMP22 is expressed by Schwann cells and is localized mainly in compact peripheral nervous system myelin. <a href="#3" class="mim-tip-reference" title="Baechner, D., Liehr, T., Hameister, H., Alterberger, H., Grehl, H., Suter, U., Rautenstrauss, B. <strong>Widespread expression of the peripheral myelin protein-22 gene (pmp22) in neural and non-neural tissues during murine development.</strong> J. Neurosci. Res. 42: 733-741, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8847735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8847735</a>] [<a href="https://doi.org/10.1002/jnr.490420602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8847735">Baechner et al. (1995)</a> demonstrated widespread distribution of PMP22 RNA in several mesodermal and ectodermal tissues of developing mice, as well as in the villi of the adult gut, suggesting to them a broader biologic significance for Pmp22 in cell proliferation or differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8847735+1374899+1999826+1552943" 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="#27" class="mim-tip-reference" title="Huxley, C., Passage, E., Manson, A., Putzu, G., Figarella-Branger, D., Pellissier, J. F., Fontes, M. <strong>Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.</strong> Hum. Molec. Genet. 5: 563-569, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733121</a>] [<a href="https://doi.org/10.1093/hmg/5.5.563" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733121">Huxley et al. (1996)</a> constructed a mouse model for CMT1A by pronuclear injection of a YAC containing the human PMP22 gene and a large proportion of the region duplicated in CMT1A. They noted that CMT1A represents a unique case in which partial trisomy of a major gene leads to the pathology. Yeast artificial chromosomes are ideal for creating animal models of overexpression of genes since they contain very large stretches of DNA within which not only the structural gene but the long range controlling elements that confer full levels of tissue-specific expression may be present. In 1 transgenic line, about 8 copies of the human DNA was integrated into a mouse chromosome. This mouse developed a peripheral neuropathy closely similar to that seen in human CMT1A, with progressive weakness of the hind legs, severe demyelination in the peripheral nervous system, and the presence of onion bulb formations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733121" 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="#54" class="mim-tip-reference" title="Perea, J., Robertson, A., Tomachova, T., Muddle, J., King, R. H. M., Ponsford, S., Thomas, P. K., Huxley, C. <strong>Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.</strong> Hum. Molec. Genet. 10: 1007-1018, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331611</a>] [<a href="https://doi.org/10.1093/hmg/10.10.1007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11331611">Perea et al. (2001)</a> generated a transgenic mouse model for CMT in which mouse Pmp22 overexpression occurs specifically in Schwann cells of the peripheral nerve and is switched off when the mice are fed tetracycline. Overexpression of Pmp22 throughout life (in the absence of tetracycline) causes demyelination. In contrast, myelination is nearly normal when Pmp22 overexpression is switched off throughout life by feeding the mice tetracycline. When overexpression of Pmp22 is switched off in adult mice, correction begins within 1 week and myelination is well advanced by 3 months, suggesting that the Schwann cells are poised to start myelination. Upregulation of the gene in adult mice (which had previously had normal Pmp22 expression) is followed by active demyelination within 1 week. The authors hypothesized that even adult mice are sensitive to the level of expression of Pmp22 with respect to homeostasis of the myelin sheath. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11331611" 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 steroid hormone progesterone has been shown to stimulate Pmp22 gene expression both in cultured Schwann cells and in adult mice (<a href="#42" class="mim-tip-reference" title="Melcangi, R. C., Magnaghi, V., Cavarretta, I., Zucchi, I., Bovolin, P., D'Urso, D., Martini, L. <strong>Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: possible mechanisms of action.</strong> J. Neurosci. Res. 56: 349-357, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10340743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10340743</a>] [<a href="https://doi.org/10.1002/(SICI)1097-4547(19990515)56:4<349::AID-JNR3>3.0.CO;2-H" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10340743">Melcangi et al., 1999</a>). Using a rat model of CMT1A with extra copies of the Pmp22 gene, <a href="#63" class="mim-tip-reference" title="Sereda, M. W., Meyer zu Horste, G., Suter, U., Uzma, N., Nave, K.-A. <strong>Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). (Letter)</strong> Nature Med. 9: 1533-1537, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608378</a>] [<a href="https://doi.org/10.1038/nm957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608378">Sereda et al. (2003)</a> demonstrated that the progesterone antagonist onapristone reduced overexpression of Pmp22 and improved the CMT phenotype in male mice, as indicated by maintenance of large axons and improved motor performance. Pmp22 mRNA was decreased by 15% in onapristone-treated animals. <a href="#63" class="mim-tip-reference" title="Sereda, M. W., Meyer zu Horste, G., Suter, U., Uzma, N., Nave, K.-A. <strong>Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). (Letter)</strong> Nature Med. 9: 1533-1537, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608378</a>] [<a href="https://doi.org/10.1038/nm957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608378">Sereda et al. (2003)</a> suggested that a reduction in Pmp22 transcription may have a beneficial effect on the disease course. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10340743+14608378" 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 mutant mice overexpressing Pmp22, <a href="#50" class="mim-tip-reference" title="Passage, E., Norreel, J. C., Noack-Fraissignes, P., Sanguedolce, V., Pizant, J., Thirion, X., Robaglia-Schlupp, A., Pellissier, J. F., Fontes, M. <strong>Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.</strong> Nature Med. 10: 396-401, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15034573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15034573</a>] [<a href="https://doi.org/10.1038/nm1023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15034573">Passage et al. (2004)</a> found that treatment with ascorbic acid resulted in amelioration of the CMT1A phenotype, as measured by improved motor function and increased survival. The treated mice also showed a 10-fold decrease in Pmp22 RNA in sciatic nerves. <a href="#50" class="mim-tip-reference" title="Passage, E., Norreel, J. C., Noack-Fraissignes, P., Sanguedolce, V., Pizant, J., Thirion, X., Robaglia-Schlupp, A., Pellissier, J. F., Fontes, M. <strong>Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.</strong> Nature Med. 10: 396-401, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15034573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15034573</a>] [<a href="https://doi.org/10.1038/nm1023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15034573">Passage et al. (2004)</a> noted that ascorbic acid is a promoter of myelination, and proposed a mechanism of Pmp22 suppression via inhibition of cAMP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15034573" 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 HeLa cell studies, <a href="#30" class="mim-tip-reference" title="Khajavi, M., Shiga, K., Wiszniewski, W., He, F., Shaw, C. A., Yan, J., Wensel, T. G., Snipes, G. J., Lupski, J. R. <strong>Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.</strong> Am. J. Hum. Genet. 81: 438-453, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701891</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701891[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701891">Khajavi et al. (2007)</a> observed that Tr and TrJ mutant human PMP22 proteins accumulated within the endoplasmic reticulum (ER) and induced apoptosis. Treatment of these cells with curcumin, a chemical compound derived from turmeric, decreased apoptosis, similar to that observed in a previous study of mutant MPZ (<a href="#29" class="mim-tip-reference" title="Khajavi, M., Inoue, K., Wisniewski, W., Ohyama, T., Snipes, G. J., Lupski, J. R. <strong>Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.</strong> Am. J. Hum. Genet. 77: 841-850, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252242[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/497541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252242">Khajavi et al., 2005</a>). Oral curcumin treatment of TrJ newborn mice resulted in dose-dependent improved motor performance that correlated pathologically with decreased Schwann cell apoptosis, increased axonal caliber, and increased myelin thickness compared to untreated mice. Bioavailability studies showed low serum levels of curcumin with accumulation in sciatic nerves and brain of treated animals. Treated mice exhibited no side effects. <a href="#30" class="mim-tip-reference" title="Khajavi, M., Shiga, K., Wiszniewski, W., He, F., Shaw, C. A., Yan, J., Wensel, T. G., Snipes, G. J., Lupski, J. R. <strong>Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.</strong> Am. J. Hum. Genet. 81: 438-453, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701891</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701891[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701891">Khajavi et al. (2007)</a> concluded that curcumin reduced the toxic effects of mutant aggregation-induced apoptosis, possibly by enabling a more efficient protein-trafficking process in the ER. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17701891+16252242" 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="#43" class="mim-tip-reference" title="Meyer zu Horste, G. M., Prukop, T., Liebetanz, D., Mobius, W., Nave, K.-A., Sereda, M. W. <strong>Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy.</strong> Ann. Neurol. 61: 61-72, 2007. Note: Erratum: Ann. Neurol. 61: 282 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17262851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17262851</a>] [<a href="https://doi.org/10.1002/ana.21026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17262851">Meyer zu Horste et al. (2007)</a> found that long-term treatment with subcutaneous onapristone in 5-week-old rats with a duplication of the Pmp22 gene resulted in significantly increased muscle strength and muscle mass at 26 weeks. Detailed studies of peripheral nerves indicated that treatment reduced progressive axonal loss but did not alter the visible myelination pathology, suggesting that axonal support and myelin assembly are distinct physiologic functions of Schwann cells, both of which are interrupted in CMT. Pmp22 levels in cutaneous nerve at 9 weeks correlated with hind-limb grip strength at 26 weeks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17262851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Gabreels-Festen1992" class="mim-tip-reference" title="Gabreels-Festen, A. A. W. M., Joosten, E. M. G., Gabreels, F. J. M., Jennekens, F. G. I., Janssen-van Kempen, T. W. <strong>Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).</strong> J. Neurol. Sci. 107: 145-154, 1992.">Gabreels-Festen et al. (1992)</a>; <a href="#Lupski1991" class="mim-tip-reference" title="Lupski, J. R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., Patel, P. I. <strong>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.</strong> Cell 66: 219-232, 1991.">Lupski et al. (1991)</a>
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Aarskog, N. K., Vedeler, C. A.
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<strong>Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.</strong>
|
|
Hum. Genet. 107: 494-498, 2000.
|
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390000399" target="_blank">Full Text</a>]
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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>]
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[<a href="https://doi.org/10.1038/jhg.2011.20" target="_blank">Full Text</a>]
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<a id="Baechner1995" class="mim-anchor"></a>
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Baechner, D., Liehr, T., Hameister, H., Alterberger, H., Grehl, H., Suter, U., Rautenstrauss, B.
|
|
<strong>Widespread expression of the peripheral myelin protein-22 gene (pmp22) in neural and non-neural tissues during murine development.</strong>
|
|
J. Neurosci. Res. 42: 733-741, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8847735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8847735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8847735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jnr.490420602" target="_blank">Full Text</a>]
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Berciano, J., Calleja, J., Combarros, O.
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<strong>Charcot-Marie-Tooth disease. (Letter)</strong>
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Neurology 44: 1985-1986, 1994.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7936269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.44.10.1985-a" target="_blank">Full Text</a>]
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Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., Kraft, G. H.
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|
<strong>Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).</strong>
|
|
Ann. Neurol. 14: 679-684, 1983.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6651251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1002/ana.410140612" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Blair1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blair, I. P., Nash, J., Gordon, M. J., Nicholson, G. A.
|
|
<strong>Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.</strong>
|
|
Am. J. Hum. Genet. 58: 472-476, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644705" 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="7" class="mim-anchor"></a>
|
|
<a id="Boerkoel2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong>
|
|
Ann. Neurol. 51: 190-201, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11835375" 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.10089" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Bort1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bort, S., Martinez, F., Palau, F.
|
|
<strong>Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. (Letter)</strong>
|
|
Am. J. Hum. Genet. 60: 230-233, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981968</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981968" 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="Bosch1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bosch, E. P., Murphy, M. J., Cancilla, P. A.
|
|
<strong>Peripheral neurofibromatosis and peroneal muscular atrophy.</strong>
|
|
Neurology 31: 1408-1414, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6796901" 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.31.11.1408" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Butefisch1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Butefisch, C., Gutmann, L., Gutmann, L.
|
|
<strong>Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Neurology 52: 890-891, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10078755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10078755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10078755" 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.52.4.890" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Chance1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chance, P. F., Bird, T. D., Atkinson, D., O'Connell, P., Leppert, M., Lipe, H., Ketting, R., Lalouel, J.-M., White, R. W.
|
|
<strong>Linkage evidence for genetic heterogeneity in type I Charcot-Marie-Tooth neuropathy. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A135, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Chance1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chance, P. F., Bird, T. D., O'Connell, P., Lipe, H., Lalouel, J.-M., Leppert, M.
|
|
<strong>Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).</strong>
|
|
Am. J. Hum. Genet. 47: 915-925, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2239969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2239969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2239969" 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="13" class="mim-anchor"></a>
|
|
<a id="Cremers1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cremers, F. P. M., Pfeiffer, R. A., van de Pol, T. J. R., Hofker, M. H., Kruse, T. A., Wieringa, B., Ropers, H. H.
|
|
<strong>An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.</strong>
|
|
Hum. Genet. 77: 23-27, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3476455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3476455</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3476455" 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/BF00284707" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Dematteis2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dematteis, M., Pepin, J.-L., Jeanmart, M., Deschaux, C., Labarre-Vila, A., Levy, P.
|
|
<strong>Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study.</strong>
|
|
Lancet 357: 267-272, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/S0140-6736(00)03614-X" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Dyck1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Ott, J., Moore, S. B., Swanson, C. J., Lambert, E. H.
|
|
<strong>Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.</strong>
|
|
Mayo Clin. Proc. 58: 430-435, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6865476" 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="16" class="mim-anchor"></a>
|
|
<a id="Fabrizi1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Cavallaro, T., Taioli, F., Orrico, D., Morbin, M., Simonati, A., Rizzuto, N.
|
|
<strong>Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.</strong>
|
|
Neurology 53: 846-851, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10489052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10489052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10489052" 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.53.4.846" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Fabrizi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N.
|
|
<strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49-to-leu in the myelin protein zero.</strong>
|
|
Acta Neuropath. 100: 299-304, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965800" 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/s004019900175" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Gabreels-Festen1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gabreels-Festen, A. A. W. M., Bolhuis, P. A., Hoogendijk, J. E., Valentijn, L. J., Eshuis, E. J. H. M., Gabreels, F. J. M.
|
|
<strong>Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication event versus PMP22 point mutations.</strong>
|
|
Acta Neuropath. 90: 645-649, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8615087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8615087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8615087" 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/BF00318579" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Gabreels-Festen1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gabreels-Festen, A. A. W. M., Joosten, E. M. G., Gabreels, F. J. M., Jennekens, F. G. I., Janssen-van Kempen, T. W.
|
|
<strong>Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).</strong>
|
|
J. Neurol. Sci. 107: 145-154, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1564512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1564512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1564512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(92)90282-p" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Garcia1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Garcia, C. A., Malamut, R. E., England, J. D., Parry, G. S., Liu, P., Lupski, J. R.
|
|
<strong>Clinical variability in two pairs of identical twins with Charcot-Marie-Tooth disease type 1A duplication.</strong>
|
|
Neurology 45: 2090-2093, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7501164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7501164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7501164" 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.45.11.2090" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Gouvea2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gouvea, S. P., Borghetti, V. H. S., Bueno, K. C., Genari, A. B., Lourenco, C. M., Sobreira, C., Barreira, A. A., Marques, W., Jr.
|
|
<strong>Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.</strong>
|
|
Neurogenetics 11: 135-138, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19705173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19705173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19705173" 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/s10048-009-0211-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Green1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Green, M. C.
|
|
<strong>Genetic variants and strains of the laboratory mouse.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Griffiths1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Griffiths, J. D., Stark, R. J., Ding, J. C., Cooper, I. A.
|
|
<strong>Vincristine neurotoxicity in Charcot-Marie-Tooth syndrome.</strong>
|
|
Med. J. Aust. 143: 305-306, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4046919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4046919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4046919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.5694/j.1326-5377.1985.tb123018.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Hertz1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hertz, J. M., Borglum, A. D., Brandt, C. A., Flint, T., Bisgaard, C.
|
|
<strong>Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.</strong>
|
|
Clin. Genet. 46: 291-294, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7834893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7834893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7834893" 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.1399-0004.1994.tb04162.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Hoogendijk1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hoogendijk, J. E., de Visser, M., Bolhuis, P. A., Hart, A. A. M., Ongerboer de Visser, B. W.
|
|
<strong>Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype.</strong>
|
|
Muscle Nerve 17: 85-90, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8264707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8264707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8264707" 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/mus.880170112" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Hoogendijk1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hoogendijk, J. E., Hensels, G. W., Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., Janssen, E. A. M., De Jonghe, P., Martin, J.-J., Van Broeckhoven, C., Valentijn, L. J., Baas, F., de Visser, M., Bolhuis, P. A.
|
|
<strong>De-novo mutation in hereditary motor and sensory neuropathy type I.</strong>
|
|
Lancet 339: 1081-1082, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1349106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(92)90668-s" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Huxley1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huxley, C., Passage, E., Manson, A., Putzu, G., Figarella-Branger, D., Pellissier, J. F., Fontes, M.
|
|
<strong>Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.</strong>
|
|
Hum. Molec. Genet. 5: 563-569, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733121" 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/5.5.563" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Katona2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Katona, I., Wu, X., Feely, S. M., Sottile, S., Siskind, C. E., Miller, L. J., Shy, M. E., Li, J.
|
|
<strong>PMP22 expression in dermal nerve myelin from patients with CMT1A.</strong>
|
|
Brain 132: 1734-1740, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19447823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19447823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19447823[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=19447823" 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/awp113" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Khajavi2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khajavi, M., Inoue, K., Wisniewski, W., Ohyama, T., Snipes, G. J., Lupski, J. R.
|
|
<strong>Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.</strong>
|
|
Am. J. Hum. Genet. 77: 841-850, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252242[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=16252242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/497541" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Khajavi2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khajavi, M., Shiga, K., Wiszniewski, W., He, F., Shaw, C. A., Yan, J., Wensel, T. G., Snipes, G. J., Lupski, J. R.
|
|
<strong>Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.</strong>
|
|
Am. J. Hum. Genet. 81: 438-453, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701891</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701891[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=17701891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/519926" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="King1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
King, P. H., Waldrop, R., Lupski, J. R., Shaffer, L. G.
|
|
<strong>Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.</strong>
|
|
Clin. Genet. 54: 413-416, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9842994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9842994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9842994" 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.1399-0004.1998.tb03755.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Kleopa2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K.
|
|
<strong>A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.</strong>
|
|
Neurogenetics 5: 171-175, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15205993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15205993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15205993" 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/s10048-004-0184-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Lebo1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Lynch, E. D., Bird, T. D., Golbus, M. S., Barker, D. F., O'Connell, P., Chance, P. F.
|
|
<strong>Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type 1 (CMT1A) gene-region markers.</strong>
|
|
Am. J. Hum. Genet. 50: 42-55, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1729894" 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="34" class="mim-anchor"></a>
|
|
<a id="Liehr1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liehr, T., Rautenstrauss, B., Grehl, H., Bathke, K. D., Ekici, A., Rauch, A., Rott, H.-D.
|
|
<strong>Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.</strong>
|
|
Hum. Genet. 98: 22-28, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682501" 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/s004390050154" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Liu2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, P., Gelowani, V., Zhang, F., Drory, V. E., Ben-Shachar, S., Roney, E., Medeiros, A. C., Moore, R. J., DiVincenzo, C., Burnette, W. B., Higgins, J. J., Li, J., Orr-Urtreger, A., Lupski, J. R.
|
|
<strong>Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.</strong>
|
|
Am. J. Hum. Genet. 94: 462-469, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530202[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=24530202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2014.01.017" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Lupski1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Garcia, C. A., Parry, G. J., Patel, P. I.
|
|
<strong>Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiological, and genetic aspects. In: Appel, S.: Current Neurology.</strong>
|
|
Chicago: Mosby-Yearbook (pub.) 1991. Pp. 1-25.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Lupski1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., Patel, P. I.
|
|
<strong>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Cell 66: 219-232, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1677316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(91)90613-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Lupski1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Pentao, L., Williams, L. L., Patel, P. I.
|
|
<strong>Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.</strong>
|
|
Am. J. Med. Genet. 45: 92-96, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8418668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8418668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8418668" 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.1320450122" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Lupski1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., Ledbetter, D. H., Greenberg, F., Patel, P. I.
|
|
<strong>Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Nature Genet. 1: 29-33, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301995" 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/ng0492-29" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Matise1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matise, T. C., Chakravarti, A., Patel, P. I., Lupski, J. R., Nelis, E., Timmerman, V., Van Broeckhoven, C., Weeks, D. E.
|
|
<strong>Detection of tandem duplications and implications for linkage analysis.</strong>
|
|
Am. J. Hum. Genet. 54: 1110-1121, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198134" 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="41" class="mim-anchor"></a>
|
|
<a id="McAlpine1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McAlpine, P. J., Feasby, T. E., Hahn, A. F., Komarnicki, L., James, S., Guy, C., Dixon, M., Qayyum, S., Wright, J., Coopland, G., Lewis, M., Kaita, H., Philipps, S., Wong, P., Koopman, W., Cox, D. W., Yee, W. C.
|
|
<strong>Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.</strong>
|
|
Genomics 7: 408-415, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90175-t" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Melcangi1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Melcangi, R. C., Magnaghi, V., Cavarretta, I., Zucchi, I., Bovolin, P., D'Urso, D., Martini, L.
|
|
<strong>Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: possible mechanisms of action.</strong>
|
|
J. Neurosci. Res. 56: 349-357, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10340743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10340743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10340743" 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)1097-4547(19990515)56:4<349::AID-JNR3>3.0.CO;2-H" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Meyer zu Horste2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meyer zu Horste, G. M., Prukop, T., Liebetanz, D., Mobius, W., Nave, K.-A., Sereda, M. W.
|
|
<strong>Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy.</strong>
|
|
Ann. Neurol. 61: 61-72, 2007. Note: Erratum: Ann. Neurol. 61: 282 only, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17262851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17262851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17262851" 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.21026" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Middleton-Price1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H. R., Harding, A. E., Monteiro, C., Berciano, J., Malcolm, S.
|
|
<strong>Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.</strong>
|
|
Am. J. Hum. Genet. 46: 92-94, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2294757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2294757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2294757" 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="45" class="mim-anchor"></a>
|
|
<a id="Middleton-Price1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H. R., Harding, A. E., Monteiro, C. J., Berciano, J., Malcolm, S.
|
|
<strong>Linkage of hereditary motor and sensory neuropathy type I (HMSNI) to the pericentromeric region of chromosome 17. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1044, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Mostacciuolo2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mostacciuolo, M. L., Righetti, E., Zortea, M., Bosello, V., Schiavon, F., Vallo, L., Merlini, L., Siciliano, G., Fabrizi, G. M., Rizzuto, N., Milani, M., Baratta, S., Taroni, F.
|
|
<strong>Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.</strong>
|
|
Hum. Mutat. 18: 32-41, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438991" 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/humu.1147" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Naumann2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Naumann, R., Mohm, J., Reuner, U., Kroschinsky, F., Rautenstrauss, B., Ehninger, G.
|
|
<strong>Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity.</strong>
|
|
Brit. J. Haemat. 115: 323-325, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1365-2141.2001.03126.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Nicholson1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nicholson, G. A., Mesterovic, N., Ross, D. A., Block, J., McLeod, J. G.
|
|
<strong>Linkage of the gene for Charcot-Marie-Tooth neuropathy. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1052-1053, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Pareek1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pareek, S,, Notterpek, L., Snipes, G. J., Naef, R., Sossin, W., Laliberte, J., Iacampo, S., Suter, U., Shooter, E. M., Murphy, R. A.
|
|
<strong>Neurons promote the translocation of peripheral myelin protein 22 into myelin.</strong>
|
|
J. Neurosci. 17: 7754-7762, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9315897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9315897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9315897[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=9315897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1523/JNEUROSCI.17-20-07754.1997" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Passage2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Passage, E., Norreel, J. C., Noack-Fraissignes, P., Sanguedolce, V., Pizant, J., Thirion, X., Robaglia-Schlupp, A., Pellissier, J. F., Fontes, M.
|
|
<strong>Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.</strong>
|
|
Nature Med. 10: 396-401, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15034573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15034573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15034573" 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/nm1023" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Patel1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Patel, P. I., Franco, B., Garcia, C., Slaugenhaupt, S. A., Nakamura, Y., Ledbetter, D. H., Chakravarti, A., Lupski, J. R.
|
|
<strong>Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.</strong>
|
|
Am. J. Hum. Genet. 46: 801-809, 1990. Note: Erratum: Am. J. Hum. Genet. 47: 172 only, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2316525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2316525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2316525" 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="52" class="mim-anchor"></a>
|
|
<a id="Patel1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Patel, P. I., Garcia, C., Montes de Oca-Luna, R., Malamut, R. I., Franco, B., Slaugenhaupt, S., Chakravarti, A., Lupski, J. R.
|
|
<strong>Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.</strong>
|
|
Am. J. Hum. Genet. 47: 926-934, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1978559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1978559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1978559" 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="53" class="mim-anchor"></a>
|
|
<a id="Pellegrino1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pellegrino, J. E., Pellegrino, L., Spinner, N. B., Sladky, J., Chance, P. F., Zackai, E. H.
|
|
<strong>Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.</strong>
|
|
Am. J. Med. Genet. 61: 377-381, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8834051" 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)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Perea2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Perea, J., Robertson, A., Tomachova, T., Muddle, J., King, R. H. M., Ponsford, S., Thomas, P. K., Huxley, C.
|
|
<strong>Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Hum. Molec. Genet. 10: 1007-1018, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11331611" 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/10.10.1007" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Raeymaekers1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Raeymaekers, P., Timmerman, V., De Jonghe, P., Swerts, L., Gheuens, J., Martin, J.-J., Muylle, L., De Winter, G., Vandenberghe, A., Van Broeckhoven, C.
|
|
<strong>Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).</strong>
|
|
Am. J. Hum. Genet. 45: 953-958, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2589322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2589322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2589322" 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="56" class="mim-anchor"></a>
|
|
<a id="Raskind1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Raskind, W. H., Williams, C. A., Hudson, L. D., Bird, T. D.
|
|
<strong>Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.</strong>
|
|
Am. J. Hum. Genet. 49: 1355-1360, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1720927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1720927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1720927" 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="57" class="mim-anchor"></a>
|
|
<a id="Reilly2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reilly, M. M.
|
|
<strong>Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!</strong>
|
|
Neurology 65: 186-187, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043782</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043782" 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.0000173904.97549.94" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Rosen1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosen, S. A., Wang, H., Cornblath, D. R., Uematsu, S., Hurko, O.
|
|
<strong>Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I.</strong>
|
|
Neurology 39: 1173-1177, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2771067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2771067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2771067" 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.39.9.1173" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Sahenk2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sahenk, Z., Nagaraja, H. N., McCracken, B. S., King, W. M., Freimer, M. L., Cedarbaum, J. M., Mendell, J. R.
|
|
<strong>NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients.</strong>
|
|
Neurology 65: 681-689, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16157899" 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.0000171978.70849.c5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Saporta2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E.
|
|
<strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong>
|
|
Ann. Neurol. 69: 22-33, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280073</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21280073[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=21280073" 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.22166" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Schiavon1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schiavon, F., Mostacciuolo, M. L., Saad, F., Merlini, L., Siciliano, G., Angelini, C., Danieli, G. A.
|
|
<strong>Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.</strong>
|
|
J. Med. Genet. 31: 880-883, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7853375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7853375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7853375" 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.31.11.880" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Selles2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Selles, R. W., van Ginneken, B. T. J., Schreuders, T. A. R., Janssen, W. G. M., Stam, H. J.
|
|
<strong>Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease.</strong>
|
|
Neurology 67: 2022-2027, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159111</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17159111" 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.0000247272.96136.16" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Sereda2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sereda, M. W., Meyer zu Horste, G., Suter, U., Uzma, N., Nave, K.-A.
|
|
<strong>Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). (Letter)</strong>
|
|
Nature Med. 9: 1533-1537, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608378" 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/nm957" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Shy2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shy, M. E., Chen, L., Swan, E. R., Taube, R., Krajewski, K. M., Herrmann, D., Lewis, R. A., McDermott, M. P.
|
|
<strong>Neuropathy progression in Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Neurology 70: 378-383, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18227419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18227419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18227419" 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.0000297553.36441.ce" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Sorour1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sorour, E., Thompson, P., MacMillan, J., Upadhyaya, M.
|
|
<strong>Inheritance of CMT1A duplication from a mosaic father.</strong>
|
|
J. Med. Genet. 32: 483-485, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7666403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7666403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7666403" 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.32.6.483" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Suter1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suter, U., Moskow, J. J., Welcher, A. A., Snipes, G. J., Kosaras, B., Sidman, R. L., Buchberg, A. M., Shooter, E. M.
|
|
<strong>A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 4382-4386, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1374899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1374899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1374899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.89.10.4382" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Suter1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suter, U., Patel, P. I.
|
|
<strong>Genetic basis of inherited peripheral neuropathies.</strong>
|
|
Hum. Mutat. 3: 95-102, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7515304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7515304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7515304" 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/humu.1380030203" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Suter1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suter, U., Welcher, A. A., Ozcelik, T., Snipes, G. J., Kosaras, B., Francke, U., Billings-Gagliardi, S., Sidman, R. L., Shooter, E. M.
|
|
<strong>Trembler mouse carries a point mutation in a myelin gene.</strong>
|
|
Nature 356: 241-244, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/356241a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Swan2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Swan, E. R., Fuerst, D. R., Shy, M. E.
|
|
<strong>Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Neurology 68: 873 only, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17353481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17353481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17353481" 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.0000256818.43819.da" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Timmerman1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Timmerman, V., Raeymaekers, P., De Jonghe, P., De Winter, G., Swerts, L., Jacobs, K., Gheuens, J., Martin, J.-J., Vandenberghe, A., Van Broeckhoven, C.
|
|
<strong>Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.</strong>
|
|
Am. J. Hum. Genet. 47: 680-685, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2220808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2220808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2220808" 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="71" class="mim-anchor"></a>
|
|
<a id="Valentijn1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den Bosch, N. H. A., Zorn, I., Gabreels-Festen, A. A. W. M., de Visser, M., Bolhuis, P. A.
|
|
<strong>Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Nature Genet. 2: 288-291, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303281" 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/ng1292-288" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Vance1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vance, J. M., Barker, D., Yamaoka, L. H., Stajich, J. M., Loprest, L., Hung, W.-Y., Fischbeck, K., Roses, A. D., Pericak-Vance, M. A.
|
|
<strong>Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.</strong>
|
|
Genomics 9: 623-628, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(91)90355-i" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Vance1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vance, J. M., Nicholson, G., Yamaoka, L. H., Stajich, J., Stewart, C. S., Speer, C., Hung, W.-Y., Roses, A. D., Barker, D., Gaskell, P. C., Pericak-Vance, M. A.
|
|
<strong>Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1097-1098, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Vance1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vance, J. M.
|
|
<strong>Hereditary motor and sensory neuropathies.</strong>
|
|
J. Med. Genet. 28: 1-5, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999826" 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.28.1.1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Videler2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Videler, A. J., van Dijk, J. P., Beelen, A., de Visser, M., Nollet, F., van Schaik, I. N.
|
|
<strong>Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a.</strong>
|
|
Neurology 71: 1254-1260, 2008.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18852440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18852440</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18852440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000327643.05073.eb" target="_blank">Full Text</a>]
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<a id="Weiden1972" class="mim-anchor"></a>
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Weiden, P. L., Wright, S. E.
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<strong>Vincristine neurotoxicity.</strong>
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New Eng. J. Med. 286: 1369-1370, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5027400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5027400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5027400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Weterman, M. A. J., van Ruissen, F., de Wissel, M., Bordewijk, L., Samijn, J. P. A., van der Pol, W. L., Meggouh, F., Baas, F.
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<strong>Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.</strong>
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Europ. J. Hum. Genet. 18: 421-428, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888301[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=19888301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2009.186" target="_blank">Full Text</a>]
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Wulfsberg, E. A., Weaver, R. P., Cunniff, C. M., Jones, M. C., Jones, K. L.
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<strong>Chromosome 10qter deletion syndrome: a review and report of three new cases.</strong>
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Am. J. Med. Genet. 32: 364-367, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2658586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320320319" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 4/23/2014
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Cassandra L. Kniffin - updated : 12/15/2011<br>Cassandra L. Kniffin - updated : 11/22/2011<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 3/23/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 1/31/2008<br>Cassandra L. Kniffin - updated : 11/6/2007<br>Cassandra L. Kniffin - updated : 10/12/2007<br>Cassandra L. Kniffin - updated : 8/15/2007<br>Cassandra L. Kniffin - updated : 11/10/2005<br>Cassandra L. Kniffin - updated : 10/25/2004<br>Cassandra L. Kniffin - updated : 3/24/2004<br>Cassandra L. Kniffin - updated : 12/4/2003<br>Cassandra L. Kniffin - updated : 5/1/2003<br>Cassandra L. Kniffin - reorganized : 4/25/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Victor A. McKusick - updated : 5/9/2002<br>Victor A. McKusick - updated : 2/6/2002<br>George E. Tiller - updated : 10/8/2001<br>Victor A. McKusick - updated : 7/24/2001<br>Ada Hamosh - updated : 4/26/2001<br>Victor A. McKusick - updated : 12/19/2000<br>George E. Tiller - updated : 9/22/2000<br>George E. Tiller - updated : 3/23/2000<br>Orest Hurko - updated : 6/14/1999<br>Victor A. McKusick - updated : 6/23/1997<br>Moyra Smith - updated : 1/27/1997<br>Moyra Smith - Updated : 6/13/1996<br>Moyra Smith - Updated : 5/25/1996<br>Orest Hurko - updated : 4/2/1996<br>Orest Hurko - updated : 4/1/1996<br>Orest Hurko - updated : 3/22/1996
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Victor A. McKusick : 6/4/1986
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alopez : 07/03/2024
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carol : 12/21/2019<br>carol : 05/01/2018<br>carol : 06/23/2016<br>carol : 4/25/2014<br>mcolton : 4/23/2014<br>ckniffin : 4/23/2014<br>terry : 6/4/2012<br>carol : 5/10/2012<br>terry : 4/9/2012<br>carol : 12/16/2011<br>ckniffin : 12/15/2011<br>ckniffin : 12/15/2011<br>carol : 11/23/2011<br>ckniffin : 11/22/2011<br>carol : 9/16/2011<br>wwang : 3/31/2011<br>ckniffin : 3/16/2011<br>wwang : 3/4/2010<br>ckniffin : 3/1/2010<br>wwang : 4/8/2009<br>ckniffin : 3/23/2009<br>wwang : 1/16/2009<br>ckniffin : 1/12/2009<br>wwang : 2/12/2008<br>ckniffin : 1/31/2008<br>wwang : 11/12/2007<br>ckniffin : 11/6/2007<br>wwang : 10/19/2007<br>ckniffin : 10/12/2007<br>carol : 8/15/2007<br>ckniffin : 8/15/2007<br>wwang : 4/19/2006<br>wwang : 11/17/2005<br>ckniffin : 11/10/2005<br>ckniffin : 11/10/2005<br>wwang : 6/21/2005<br>wwang : 6/15/2005<br>ckniffin : 6/9/2005<br>ckniffin : 1/27/2005<br>ckniffin : 10/25/2004<br>ckniffin : 5/12/2004<br>alopez : 4/2/2004<br>tkritzer : 3/24/2004<br>ckniffin : 3/24/2004<br>carol : 12/5/2003<br>ckniffin : 12/4/2003<br>terry : 7/31/2003<br>ckniffin : 5/15/2003<br>carol : 5/12/2003<br>ckniffin : 5/9/2003<br>ckniffin : 5/1/2003<br>carol : 4/25/2003<br>carol : 4/25/2003<br>ckniffin : 4/25/2003<br>ckniffin : 4/24/2003<br>ckniffin : 4/23/2003<br>ckniffin : 4/22/2003<br>ckniffin : 4/10/2003<br>cwells : 5/28/2002<br>cwells : 5/28/2002<br>terry : 5/9/2002<br>alopez : 2/18/2002<br>carol : 2/6/2002<br>cwells : 10/15/2001<br>cwells : 10/8/2001<br>mcapotos : 8/8/2001<br>mcapotos : 7/31/2001<br>terry : 7/24/2001<br>mcapotos : 5/7/2001<br>mcapotos : 5/3/2001<br>terry : 4/26/2001<br>terry : 3/12/2001<br>carol : 2/5/2001<br>carol : 12/19/2000<br>carol : 12/19/2000<br>alopez : 9/22/2000<br>alopez : 3/23/2000<br>terry : 6/16/1999<br>terry : 6/14/1999<br>alopez : 6/12/1998<br>mark : 7/16/1997<br>jenny : 6/23/1997<br>terry : 1/27/1997<br>jamie : 1/21/1997<br>terry : 1/14/1997<br>mark : 6/19/1996<br>carol : 6/13/1996<br>carol : 5/25/1996<br>terry : 4/15/1996<br>mark : 4/2/1996<br>terry : 4/1/1996<br>mark : 3/22/1996<br>mark : 3/22/1996<br>terry : 3/14/1996<br>mark : 3/12/1996<br>mark : 3/5/1996<br>mark : 3/5/1996<br>mark : 3/5/1996<br>mark : 3/5/1996<br>mark : 3/2/1996<br>mark : 3/2/1996<br>mark : 2/28/1996<br>mark : 2/28/1996<br>terry : 2/21/1996<br>terry : 2/20/1996<br>mark : 2/14/1996<br>terry : 2/8/1996<br>mark : 1/12/1996<br>mark : 9/22/1995<br>terry : 3/27/1995<br>carol : 3/2/1995<br>pfoster : 7/26/1994<br>jason : 7/19/1994<br>mimadm : 6/25/1994
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<span class="mim-font">
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<strong>#</strong> 118220
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<h3>
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CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
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<em>Alternative titles; symbols</em>
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HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; HMSN IA<br />
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HMSN1A<br />
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CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A<br />
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CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A
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<strong>SNOMEDCT:</strong> 40632002;
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<strong>ORPHA:</strong> 101081;
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<strong>DO:</strong> 0110148;
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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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<span class="mim-font">
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17p12
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<span class="mim-font">
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Charcot-Marie-Tooth disease, type 1A
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<span class="mim-font">
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118220
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Autosomal dominant
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<span class="mim-font">
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3
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PMP22
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<span class="mim-font">
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601097
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 1A is caused by duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22; 601097) on chromosome 17p12.</p><p>Deletion of the PMP22 gene characteristically results in hereditary neuropathy with liability to pressure palsies (HNPP; 162500). Point mutations have also been described in the PMP22 gene in patients thought to have hypertrophic neuropathy of Dejerine-Sottas (145900).</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</p><p>CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (Lupski et al. (1991, 1992)). </p>
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<strong>Clinical Features</strong>
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<p>Bird et al. (1983) and Dyck et al. (1983) reported families of typical CMT1 except that linkage to the Duffy blood group locus (Fy) on chromosome 1, where CMT1B maps, was excluded. Whereas Dyck et al. (1983) could discern no phenotypic differences between the linked and unlinked forms, Bird et al. (1983) suggested that slowing of nerve conduction is less marked and onion bulb formation on sural nerve biopsy less conspicuous in the Duffy-unlinked form. </p><p>Berciano et al. (1994) observed that clinically normal adult CMT1A patients are rare, but do exist. They referred to 1 duplication-positive woman who had normal neurologic examinations at least up to the age of 31 even though her motor nerve conduction velocities were 30 meters per second in the median nerve. This patient had a clinically affected 4-year-old son. Berciano et al. (1994) stressed the importance of doing not only neurologic examinations but also electrophysiologic studies or DNA studies to exclude the diagnosis of CMT1A. Hoogendijk et al. (1994) reviewed the clinical and neurographic features of 44 affected individuals, aged 8 to 68 years (mean 34 years), from 6 families with chromosome 17p duplication. Motor nerve conduction velocity and, to a lesser extent, compound muscle action potential amplitude were inversely related to clinical severity. Neither clinical severity nor NCV was significantly related to age. They interpreted the findings as suggesting that the primary pathologic process is not active, or only slightly active, after childhood. Garcia et al. (1995) found remarkable concordance of nerve conduction velocities in each of 2 pairs of male homozygotic twins with a type 1A duplication. There was also congruity between the left and right side of each twin as well as between twin brothers. However, there was marked dissimilarity in the clinical severity in each of the twin pairs, as well as asymmetric clinical involvement of each affected individual. Palpable nerve enlargement was greater in the less affected twins than in their more severely affected brothers. The marked discrepancy between nerve conduction velocities and clinical weakness suggested that other factors must be responsible. </p><p>Lupski et al. (1993) studied 2 unrelated patients with both CMT1 and neurofibromatosis type I (NF1; 162200). Since both of these disorders map to the pericentric region of chromosome 17, they investigated whether this might be a contiguous gene syndrome. In both patients, however, the CMT1A was inherited from the father, who did not have NF1. Furthermore, molecular analysis showed that the CMT1A duplication was stable in the 2 patients. One patient transmitted both disorders to her daughter. Thus, this was a chance concurrence of 2 common disorders. Bosch et al. (1981) had also reported the concurrence of these 2 conditions. </p><p>Pyramidal dysfunction due to compression of the cervical spinal cord by hypertrophied nerve roots, resembling radicular neurofibromas, had been reported in several individuals with type 1 Charcot-Marie-Tooth disease by Rosen et al. (1989). Butefisch et al. (1999) reported an individual with compression of the cervical spine and the cauda equina, similar to the cases described by Rosen et al. (1989). By demonstrating a duplication of the PMP22 gene, they confirmed that this individual had CMT1A. </p><p>Liehr et al. (1996) identified mosaicism for the CMT1A duplication by 3 different and independent techniques. Mosaicism was supported by the clinical features of the patient. The 25-year-old woman reported painful sensations in the shoulders, which increased after exercise. She had markedly reduced motor and sensory nerve conduction velocities and showed bilateral pes cavus. She showed a mild distally pronounced muscular weakness of the arms and legs. Muscle stretch reflexes were absent. Sensory disturbances of the limbs were located distal to the elbow and knees. Vibration sense was reduced at the malleolus internus. Sural nerve biopsy showed a marked reduction of myelinated fibers with signs of demyelination and onion bulb formation. Four different tissues were investigated successfully, yielding different patterns of mosaicism. </p><p>Dematteis et al. (2001) diagnosed sleep apnea (107650) and CMT1A in 1 family member and prospectively investigated 13 further members not previously suspected of having neuropathy or sleep apnea. Eleven of the 14 family members had the autosomal dominant demyelinating form of CMT with PMP22 gene duplication. In addition, all 11 individuals had sleep apnea syndrome with a mean apnea-hypopnea index of 46.6 per hour (28.5) of sleep (normal value less than 15 per hour). The remaining 3 family members were free from neuropathy and sleep apnea syndrome. Sleep apnea and neuropathy severity were highly correlated; the compound muscle action potential amplitude of the median nerve was inversely correlated with the apnea-hypopnea index. The severity of neuropathy and of sleep apnea was higher in male CMT individuals and correlated with age and body mass index. No wake or sleep diaphragmatic dysfunction was shown. Dematteis et al. (2001) concluded that sleep apnea syndrome is related to a pharyngeal neuropathy. </p><p>Patients with CMT disease are particularly susceptible to vincristine neurotoxicity (Weiden and Wright, 1972; Griffiths et al., 1985). Naumann et al. (2001) reported a 31-year-old woman with recurrent Hodgkin lymphoma (236000) and unrecognized HMSN I who developed severe motor neuropathy 3 weeks after the first cycle of treatment including 2 mg of vincristine. After the fact, the patient was found to have bilateral pes cavus deformity since early childhood, contractions of ankle joints, and shortened Achilles tendons. Her brother and mother had areflexia and moderate foot deformity. The diagnosis of HMSN IA was confirmed by molecular analysis. </p><p>Swan et al. (2007) found no differences in disability, as measured by a CMT neuropathy score, between 44 previously pregnant women with CMT1A compared to both 47 affected men or 15 affected women who had never been pregnant. Statistical analysis revealed no difference in severity between men and woman overall. Approximately 50% of women who had been pregnant noted a worsening of symptoms during pregnancy, mainly weakness, changes in balance, and alterations in sensation. Nine of these women reported a permanent worsening, and 13 felt it was temporary, lasting about 2.5 months after giving birth. However, symptom scores between these 2 groups were not significant. Swan et al. (2007) concluded that men and women are equally disabled by CMT1A and that neither gender, pregnancy, nor plasma progesterone levels significantly contribute to the severity of neuropathy in women with CMT1A. </p>
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<strong>Inheritance</strong>
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<p>The heterozygous duplications in chromosome 17 that were identified in patients with CMT1A by Hoogendijk et al. (1992) occurred de novo. </p><p>The transmission pattern of CMT1A in the family reported by Valentijn et al. (1992) was consistent with autosomal dominant inheritance. </p>
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<strong>Diagnosis</strong>
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<p>Matise et al. (1994) referred to the tandem duplication underlying CMT1A as resulting in segmental trisomy. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A lie within the duplication. Matise et al. (1994) demonstrated that the undetected presence of a duplication distorts transmission ratios, hampers fine localization of the disease gene, and increases false evidence of linkage heterogeneity. They devised a likelihood-based method for detecting the presence of a tandemly duplicated marker when one is suspected. </p><p>Schiavon et al. (1994) devised a rapid, informative, economical, and easily interpretable nonradioactive test for detection of the CMT1A duplication based on a microsatellite polymorphism. They found the CMT1A duplication in 76% of 56 unrelated patients. </p><p>King et al. (1998) described a patient with CMT1A caused by duplication of the PMP22 gene through an unusual mechanism: unbalanced translocation of 17p to the X chromosome. This finding further supported the hypothesis of gene dosage as the basis of CMT1A. The case highlighted the importance of fluorescence in situ hybridization as an alternative molecular technique in the diagnosis of CMT1A. The duplication would not have been detected by standard commercial methods based on identification of a novel junction fragment by pulsed field gel electrophoresis. </p><p>Aarskog and Vedeler (2000) described a quantitative PCR method for detecting both duplication and deletion of the PMP22 gene in CMT1A and HNPP, respectively. Their method of real-time quantitative PCR is a sensitive, specific, and reproducible method allowing 13 patients to be diagnosed in 2 hours. It involves no radioisotopes and requires no post-PCR handling. </p><p>Saporta et al. (2011) were able to find a molecular basis for 527 (67%) of 787 patients with a clinical diagnosis of CMT. The most common CMT subtypes were CMT1A in 55%, CMT1X (302800) in 15.2%, HNPP (162500) in 9.1%, CMT1B (118200) in 8.5%, and CMT2A2 (609260) in 4.0%. All other subtypes accounted for less than 1% each. Eleven patients had more than 1 genetically identified subtype of CMT. Patients with genetically identified CMT were separable into specific groups based on age of onset and the degree of slowing of motor nerve conduction velocities. Saporta et al. (2011) concluded that combining features of the phenotype and physiology allowed for identification of patients with specific subtypes of CMT, and proposed a strategy of focused genetic testing for CMT. </p>
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<strong>Clinical Management</strong>
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<p>In a double-blind, randomized, placebo-controlled pilot study, Sahenk et al. (2005) found that subcutaneous administration of the nerve growth factor neurotrophin-3 (NT3; 162660) promoted peripheral nerve regeneration and sensory improvement in 4 patients with CMT1A compared to 4 untreated patients. Similar results were observed for 2 mouse models of CMT: 1 with the common PMP22 duplication and 1 with a PMP22 point mutation. Sahenk et al. (2005) concluded that NT3 improved mutant Schwann cell survival and differentiation, resulting in increases in the available Schwann cell pool, which in turn increased the number of myelinated fibers. </p><p>Selles et al. (2006) reported that the Rotterdam Intrinsic Hand Myometer (RIHM) demonstrated excellent reliability in the measurement of intrinsic hand muscle strength in patients with CMT. </p><p>Shy et al. (2008) reported use of the 'CMT Neuropathy Score' (CMTNS) and the 'Neuropathy Impairment Score' (NIS) to determine the rate of disease progression in patients with CMT1A over time. The scoring systems could be used to monitor disease progression and standardize the efficacy of certain treatments. </p><p>Videler et al. (2008) presented evidence that loss of motor axons is the major cause of hand dysfunction in patients with CMT1A. Evaluation of fine motor skills of the hand in 48 patients with CMT1A showed a correlation between decreased pinch strength, clawing of the fingers, and decreased manual dexterity, and motor axon loss as measured by compound muscle action potentials and motor unit number estimation. There was no significant correlation between motor and sensory impairment. </p>
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<strong>Mapping</strong>
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<p>Middleton-Price et al. (1989, 1990), Nicholson et al. (1989), and Vance et al. (1989) presented evidence that one form of Charcot-Marie-Tooth disease is determined by a mutation on chromosome 17. In all 3 reports, high lod scores were obtained for linkage to D17S58 and D17S71. The disorder mapping to chromosome 17 was referred to as Charcot-Marie-Tooth disease type 1A or hereditary motor and sensory neuropathy type I (HMSN I). </p><p>In studies of 7 families, Chance et al. (1989, 1990) found a high probability of linkage to chromosome 17 markers in 5. Of the other 2, linkage to the Duffy blood group was suggested in 1 and excluded in the other. In the 2 families that did not show linkage to chromosome 17, the disease was more severe than in the chromosome 17 families. </p><p>In a multigenerational family in Belgium, Raeymaekers et al. (1989) excluded chromosome 1 as the site of the mutation and demonstrated linkage to D17S58 and D17S71. By further linkage studies in this family, Timmerman et al. (1990) demonstrated that the CMT1A gene is located in the chromosomal region 17p12-p11.2 between marker D17S71 and the gene for myosin heavy chain polypeptide-2 of adult skeletal muscle (MYH2; 160740). In a large French-Acadian kindred, Patel et al. (1990) confirmed the localization of CMT1A to the pericentromeric region of chromosome 17. McAlpine et al. (1990) provided linkage data on 5 Caucasian families which excluded linkage of CMT1A to the Fy area of chromosome 1 and demonstrated close linkage to D17S58, located at 17p11.2-p11.1; maximum lod = 10.828 at theta = 0.0. The CMT1A locus appeared to be proximal to MYH2, which maps to 17p13. By differential Alu-PCR of a rodent-human hybrid cell containing only chromosome 17 and a rodent-human cell containing only chromosome 17 with a deletion of the p11.2 band, Patel et al. (1990) isolated a marker that showed linkage to CMT1A with a peak lod score of 3.41 at a recombination fraction of 0.12. By multipoint linkage analysis, Vance et al. (1991) localized the CMT1A gene to 17p11.2 and identified flanking DNA markers. Lebo et al. (1992) studied the order of markers in the region of the CMT1A gene by means of multicolor in situ hybridization which they showed could resolve loci within 0.5 Mb on early-metaphase chromosomes. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Common 1.5-Mb Duplication on Chromosome 17p12-p11</em></strong></p><p>
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See 601097.0001 for discussion of the work of Lupski et al. (1991) and others indicating that a DNA duplication on chromosome 17 in the p12-p11.2 region is frequently the basis of CMT1A.</p><p>Hoogendijk et al. (1992) found that 9 of 10 sporadic patients had the duplication in chromosome 17 as a de novo change. Hertz et al. (1994) also demonstrated that a sporadic case of CMT1A was due to de novo duplication of the 17p12-p11.2 region. In all 12 de novo CMT1A duplications reported to that time, the duplication was of paternal origin. Sorour et al. (1995) described a case of CMT1A with molecular duplication of 17p12-p11.2 and inheritance of the duplication from a mosaic father. Whereas the patient had typical clinical features, the father had minimal findings of CMT1A. </p><p>To investigate the frequency of de novo CMT1A duplications, Blair et al. (1996) examined 118 duplication-positive CMT1A families. In 10 of these families it was demonstrated that the disease had arisen as the result of a de novo mutation. They estimated that 10% or more of autosomal dominant CMT1 families are due to de novo duplications. Using polymorphic markers from within the duplicated region, they showed that 7 of the duplications were of paternal and 1 of maternal origin. This was the first report of a de novo duplication of maternal origin. Bort et al. (1997) reported that the prevalence of de novo mutation in duplication-positive CMTA1 families was 18.3%. They reported that the ratio of maternal to paternal origin of the duplication was 1:8 in their study. </p><p>Weterman et al. (2010) identified a heterozygous 186-kb deletion on chromosome 17p12 with breakpoints within the common 1.5-Mb duplication but not involving the PMP22 gene in 6 probands with CMT1A. The duplication segregated with the disorder in 2 families and was absent in more than 2,000 control chromosomes. Haplotype analysis of 2 families suggested a founder effect. The junction breakpoints were located in a repeat-rich region, located 90-kb from the proximal CMT repeat region on 1 side and 3-kb upstream of PMP22 between PMP22 and TEKT3 (612683) on the other side. The junctions created by this duplication were located outside of any known genes or open reading frames, and there was no indication for the involvement of genes located within the duplication. Weterman et al. (2010) postulated that this duplication affects PMP22 expression levels through an as yet unidentified mechanism. Weterman et al. (2010) noted that the 186-kb duplication would not be detected in most diagnostic assays. </p><p><strong><em>Point Mutations in the PMP22 Gene</em></strong></p><p>
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In a Dutch kindred with CMT1A, Valentijn et al. (1992) identified a point mutation in the PMP22 gene (601097.0002). Thus, either duplication or point mutation in the PMP22 gene can result in CMT1A. </p><p>Fabrizi et al. (1999) reported a family in which 4 individuals over 4 generations had severe CMT1A with focal myelin thickenings with a regular fusiform contour (tomacula) or a coarsely granular appearance. Ultrastructural examination disclosed uncompacted myelin and redundant irregular myelin loops. All affected patients had a heterozygous mutation in the PMP22 gene (601097.0016). Fabrizi et al. (2000) noted that myelin outfoldings have been described in other autosomal dominant CMT patients with mutations in MPZ (159440.0023), EGR2 (129010.0004), and PMP22, and that the finding is not restricted to CMT4B (see CMT4B1; 601382). </p><p>Kleopa et al. (2004) reported a family from Cyprus in which 4 affected individuals had features of HNPP and/or CMT1A. One patient presented with typical HNPP, which later progressed to severe CMT1, 2 patients had HNPP with features of CMT1, and 1 patient had a chronic asymptomatic CMT1 phenotype. All 4 patients had the same heterozygous point mutation in the PMP22 gene (601457.0019). Kleopa et al. (2004) emphasized the broad phenotypic spectrum resulting from mutations in the PMP22 gene, as well as the phenotypic overlap of HNPP and CMT1A. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Suter and Patel (1994) reviewed and discussed the curious finding that gene dosage and point mutations affecting the same gene can lead to a similar phenotype. They pointed to a possibly identical situation with Pelizaeus-Merzbacher disease (312080) in which either deletion of the entire locus encoding proteolipid protein (PLP1) (Raskind et al., 1991), as described in 300401.0006, or duplication of the PLP1 locus (Cremers et al., 1987) can cause Pelizaeus-Merzbacher disease. </p><p>Gabreels-Festen et al. (1995) compared the histology of peripheral nerve in patients with duplication of the PMP22 gene to those with point mutations. In the duplication cases, onion bulbs developed gradually in the first years of life, and the ratio of the axon diameter versus the fiber diameter was significantly lower than normal. In contrast, in patients with point mutations in PMP22, nearly all myelinated fibers had a high ratio of axon diameter versus fiber diameter, and onion bulbs were abundant from an early age. </p><p>Pellegrino et al. (1996) illustrated how it is possible in some instances to determine the genetic basis of clinical features in chromosomal rearrangements. They reported a child with monosomy 10q and dup(17p) resulting from an apparently balanced maternal translocation t(10;17)(q26.3;p11.2). Manifestations of both the duplication and the monosomy were present; however, the overall development was better than that previously reported in either syndrome. The patient's motor development was significantly more impaired than cognitive development, and signs of a peripheral neuropathy were found and attributed to duplication of 17p. Indeed, the patient was found to be trisomic for the PMP22 gene resulting in demyelinating neuropathy. An elevated serum alpha-fetoprotein had been detected at 16 weeks of gestation. The infant showed bilateral inguinal hernias and hydroceles at birth, and echocardiogram demonstrated ventriculoseptal defect (VSD) and bicuspid aortic valve. There was gastroesophageal reflux requiring Nissen fundoplication with gastrostomy tube. The VSD closed spontaneously. Hypoplastic corpus callosum was demonstrated by MRI. Terminal deletions of 10q had been reported in 26 patients, resulting in a definite phenotype (Wulfsberg et al., 1989). The manifestations included postnatal growth retardation, microcephaly, downslanting palpebral fissures, clinodactyly, syndactyly, congenital heart disease, and urogenital anomalies, all of which were present in the patient reported by Pellegrino et al. (1996). </p><p>Gouvea et al. (2010) reported an unusual case of a father and daughter with CMT who had 2 mutations in the PMP22 gene: the common 1.4-Mb duplication and S72L (601097.0007). Restriction analysis indicated that the S72L mutation was only present in 1 of the 3 PMP22 genes for both father and daughter. Both patients had a relatively mild form of the disease, manifest mainly as generalized pain without significant motor or sensory defects. The findings suggested that presence of 2 mutations in the PMP22 gene results in an attenuated form of the disease rather than a more severe form. Gouvea et al. (2010) hypothesized that the increased dosage resulting from the 1.4-Mb duplication offset the toxic gain-of-function effects of the S72L mutation on intracellular trafficking. </p><p>In 2 unrelated patients with a severe form of CMT1A, Liu et al. (2014) identified a 1.4-Mb triplication of the PMP22 gene (601097.0022). Each individual was part of a family with autosomal dominant CMT1A in which the other affected family members had the common 1.4-Mb duplication and a more typical CMT1A phenotype that was less severe. In both families, molecular analysis of the triplication indicated that it occurred on the chromosome with the duplication and arose from the duplication during meiosis in the affected mother. Haplotype analysis indicated 2 different mechanisms: in 1 family, the triplication arose via intrachromosomal nonallelic homologous recombination (NAHR), whereas in the other family it arose from intrachromosomal NAHR followed by a gene-conversion event that most likely exchanged alleles between the maternal homologous chromosomes. A review of a database for CMT1A duplication testing identified 13% with duplication and 0.024% with a duplication-to-triplication event. These findings suggested that the rate of duplication to triplication is higher than that of de novo duplication. Liu et al. (2014) proposed that individuals with duplications are predisposed to acquiring triplications and that the population prevalence of triplication may be underestimated. The inheritance pattern in this scenario resembles genetic anticipation and has implications for genetic counseling. </p>
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<strong>Pathogenesis</strong>
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<p>Katona et al. (2009) found highly variable levels of PMP22 protein, ranging from below normal to above normal, in skin biopsies from 20 patients with CMT1A due to the common 1.4-Mb duplication in the PMP22 gene. The findings were somewhat surprising, since an overall increase in PMP22 gene expression and protein was expected. In addition, there was no correlation between PMP22 mRNA or protein levels and phenotypic severity in CMT1A. In contrast, 6 individuals with HNPP (162500) due to the reciprocal PMP22 deletion had similarly decreased PMP22 levels. Katona et al. (2009) noted that PMP22 levels are tightly coordinated in the normal state, and that about 90% of translated PMP22 is rapidly degraded and never inserted into myelin (Pareek et al., 1997). Katona et al. (2009) hypothesized that dysregulation and variability of PMP22 expression may cause CMT1A, but noted that the disorder cannot result simply from a loss of normal function, since the phenotypes of CMT1A and HNPP are so different. The findings indicated that phenotypic variability in CMT1A cannot be explained by PMP22 levels in myelin. </p>
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<strong>Population Genetics</strong>
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<p>Lupski et al. (1992) stated that CMT in all of its forms is the most common inherited peripheral neuropathy in humans, with a total prevalence rate of 1 in 2,500. In a series of 172 index cases of Italian families in which there was at least 1 subject with CMT1, Mostacciuolo et al. (2001) found that among 170 informative unrelated patients, the frequency of the chromosome 17 duplication was 57.6%. A difference was observed between the duplication frequency in familial (71.6%) as opposed to nonfamilial cases (36.8%). Among the patients without the duplication, 2 had mutations in the PMP22 gene, 12 in the GJB1 gene (304040), 4 in the MPZ gene (159440), and none in the EGR2 gene (129010). </p><p>Among 153 unrelated patients with CMT, Boerkoel et al. (2002) found that 79 had a PMP22 duplication. </p><p>The 1.5-Mb duplication of PMP22 is the predominant cause of autosomal dominant CMT1, accounting for approximately 70% of all cases (Reilly, 2005). </p><p>Among 227 Japanese patients with demyelinating CMT, Abe et al. (2011) found that 53 (23.3%) carried PMP22 duplications and 10 (4.4%) carried PMP22 mutations. These were the most common genetic causes of demyelinating CMT, but the frequency of duplications was less than that observed in Caucasian populations. A molecular basis for demyelinating CMT could not be identified in 111 Japanese patients. </p>
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<strong>Animal Model</strong>
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<p>In a review of hereditary motor and sensory neuropathies, Vance (1991) pointed to the autosomal dominant 'Trembler' mutation (Tr) in the mouse as a possibly homologous condition. A hypomyelin neuropathy with onion bulb formation develops in older animals. Because of the extensive homology of synteny between mouse 11 and human 17 (Green, 1989), it is particularly attractive to think that these may be fundamentally the same disorder. In 2 allelic forms of the Trembler mouse, Suter et al. (1992, 1992) demonstrated point mutations in 2 distinct putative membrane-associated domains of a potentially growth-regulated 22-kD protein, peripheral myelin protein-22 (Pmp22). PMP22 is expressed by Schwann cells and is localized mainly in compact peripheral nervous system myelin. Baechner et al. (1995) demonstrated widespread distribution of PMP22 RNA in several mesodermal and ectodermal tissues of developing mice, as well as in the villi of the adult gut, suggesting to them a broader biologic significance for Pmp22 in cell proliferation or differentiation. </p><p>Huxley et al. (1996) constructed a mouse model for CMT1A by pronuclear injection of a YAC containing the human PMP22 gene and a large proportion of the region duplicated in CMT1A. They noted that CMT1A represents a unique case in which partial trisomy of a major gene leads to the pathology. Yeast artificial chromosomes are ideal for creating animal models of overexpression of genes since they contain very large stretches of DNA within which not only the structural gene but the long range controlling elements that confer full levels of tissue-specific expression may be present. In 1 transgenic line, about 8 copies of the human DNA was integrated into a mouse chromosome. This mouse developed a peripheral neuropathy closely similar to that seen in human CMT1A, with progressive weakness of the hind legs, severe demyelination in the peripheral nervous system, and the presence of onion bulb formations. </p><p>Perea et al. (2001) generated a transgenic mouse model for CMT in which mouse Pmp22 overexpression occurs specifically in Schwann cells of the peripheral nerve and is switched off when the mice are fed tetracycline. Overexpression of Pmp22 throughout life (in the absence of tetracycline) causes demyelination. In contrast, myelination is nearly normal when Pmp22 overexpression is switched off throughout life by feeding the mice tetracycline. When overexpression of Pmp22 is switched off in adult mice, correction begins within 1 week and myelination is well advanced by 3 months, suggesting that the Schwann cells are poised to start myelination. Upregulation of the gene in adult mice (which had previously had normal Pmp22 expression) is followed by active demyelination within 1 week. The authors hypothesized that even adult mice are sensitive to the level of expression of Pmp22 with respect to homeostasis of the myelin sheath. </p><p>The steroid hormone progesterone has been shown to stimulate Pmp22 gene expression both in cultured Schwann cells and in adult mice (Melcangi et al., 1999). Using a rat model of CMT1A with extra copies of the Pmp22 gene, Sereda et al. (2003) demonstrated that the progesterone antagonist onapristone reduced overexpression of Pmp22 and improved the CMT phenotype in male mice, as indicated by maintenance of large axons and improved motor performance. Pmp22 mRNA was decreased by 15% in onapristone-treated animals. Sereda et al. (2003) suggested that a reduction in Pmp22 transcription may have a beneficial effect on the disease course. </p><p>In mutant mice overexpressing Pmp22, Passage et al. (2004) found that treatment with ascorbic acid resulted in amelioration of the CMT1A phenotype, as measured by improved motor function and increased survival. The treated mice also showed a 10-fold decrease in Pmp22 RNA in sciatic nerves. Passage et al. (2004) noted that ascorbic acid is a promoter of myelination, and proposed a mechanism of Pmp22 suppression via inhibition of cAMP. </p><p>In HeLa cell studies, Khajavi et al. (2007) observed that Tr and TrJ mutant human PMP22 proteins accumulated within the endoplasmic reticulum (ER) and induced apoptosis. Treatment of these cells with curcumin, a chemical compound derived from turmeric, decreased apoptosis, similar to that observed in a previous study of mutant MPZ (Khajavi et al., 2005). Oral curcumin treatment of TrJ newborn mice resulted in dose-dependent improved motor performance that correlated pathologically with decreased Schwann cell apoptosis, increased axonal caliber, and increased myelin thickness compared to untreated mice. Bioavailability studies showed low serum levels of curcumin with accumulation in sciatic nerves and brain of treated animals. Treated mice exhibited no side effects. Khajavi et al. (2007) concluded that curcumin reduced the toxic effects of mutant aggregation-induced apoptosis, possibly by enabling a more efficient protein-trafficking process in the ER. </p><p>Meyer zu Horste et al. (2007) found that long-term treatment with subcutaneous onapristone in 5-week-old rats with a duplication of the Pmp22 gene resulted in significantly increased muscle strength and muscle mass at 26 weeks. Detailed studies of peripheral nerves indicated that treatment reduced progressive axonal loss but did not alter the visible myelination pathology, suggesting that axonal support and myelin assembly are distinct physiologic functions of Schwann cells, both of which are interrupted in CMT. Pmp22 levels in cutaneous nerve at 9 weeks correlated with hind-limb grip strength at 26 weeks. </p>
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</div>
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</div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Gabreels-Festen et al. (1992); Lupski et al. (1991)
|
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</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aarskog, N. K., Vedeler, C. A.
|
|
<strong>Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.</strong>
|
|
Hum. Genet. 107: 494-498, 2000.
|
|
|
|
|
|
[PubMed: 11140948]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390000399]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<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: 21326314]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/jhg.2011.20]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baechner, D., Liehr, T., Hameister, H., Alterberger, H., Grehl, H., Suter, U., Rautenstrauss, B.
|
|
<strong>Widespread expression of the peripheral myelin protein-22 gene (pmp22) in neural and non-neural tissues during murine development.</strong>
|
|
J. Neurosci. Res. 42: 733-741, 1995.
|
|
|
|
|
|
[PubMed: 8847735]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/jnr.490420602]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berciano, J., Calleja, J., Combarros, O.
|
|
<strong>Charcot-Marie-Tooth disease. (Letter)</strong>
|
|
Neurology 44: 1985-1986, 1994.
|
|
|
|
|
|
[PubMed: 7936269]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.44.10.1985-a]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., Kraft, G. H.
|
|
<strong>Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).</strong>
|
|
Ann. Neurol. 14: 679-684, 1983.
|
|
|
|
|
|
[PubMed: 6651251]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410140612]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blair, I. P., Nash, J., Gordon, M. J., Nicholson, G. A.
|
|
<strong>Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.</strong>
|
|
Am. J. Hum. Genet. 58: 472-476, 1996.
|
|
|
|
|
|
[PubMed: 8644705]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong>
|
|
Ann. Neurol. 51: 190-201, 2002.
|
|
|
|
|
|
[PubMed: 11835375]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.10089]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bort, S., Martinez, F., Palau, F.
|
|
<strong>Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. (Letter)</strong>
|
|
Am. J. Hum. Genet. 60: 230-233, 1997.
|
|
|
|
|
|
[PubMed: 8981968]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bosch, E. P., Murphy, M. J., Cancilla, P. A.
|
|
<strong>Peripheral neurofibromatosis and peroneal muscular atrophy.</strong>
|
|
Neurology 31: 1408-1414, 1981.
|
|
|
|
|
|
[PubMed: 6796901]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.31.11.1408]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Butefisch, C., Gutmann, L., Gutmann, L.
|
|
<strong>Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Neurology 52: 890-891, 1999.
|
|
|
|
|
|
[PubMed: 10078755]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.52.4.890]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chance, P. F., Bird, T. D., Atkinson, D., O'Connell, P., Leppert, M., Lipe, H., Ketting, R., Lalouel, J.-M., White, R. W.
|
|
<strong>Linkage evidence for genetic heterogeneity in type I Charcot-Marie-Tooth neuropathy. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A135, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chance, P. F., Bird, T. D., O'Connell, P., Lipe, H., Lalouel, J.-M., Leppert, M.
|
|
<strong>Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).</strong>
|
|
Am. J. Hum. Genet. 47: 915-925, 1990.
|
|
|
|
|
|
[PubMed: 2239969]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cremers, F. P. M., Pfeiffer, R. A., van de Pol, T. J. R., Hofker, M. H., Kruse, T. A., Wieringa, B., Ropers, H. H.
|
|
<strong>An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.</strong>
|
|
Hum. Genet. 77: 23-27, 1987.
|
|
|
|
|
|
[PubMed: 3476455]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00284707]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dematteis, M., Pepin, J.-L., Jeanmart, M., Deschaux, C., Labarre-Vila, A., Levy, P.
|
|
<strong>Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study.</strong>
|
|
Lancet 357: 267-272, 2001.
|
|
|
|
|
|
[PubMed: 11214130]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/S0140-6736(00)03614-X]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Ott, J., Moore, S. B., Swanson, C. J., Lambert, E. H.
|
|
<strong>Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.</strong>
|
|
Mayo Clin. Proc. 58: 430-435, 1983.
|
|
|
|
|
|
[PubMed: 6865476]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Cavallaro, T., Taioli, F., Orrico, D., Morbin, M., Simonati, A., Rizzuto, N.
|
|
<strong>Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.</strong>
|
|
Neurology 53: 846-851, 1999.
|
|
|
|
|
|
[PubMed: 10489052]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.53.4.846]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N.
|
|
<strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49-to-leu in the myelin protein zero.</strong>
|
|
Acta Neuropath. 100: 299-304, 2000.
|
|
|
|
|
|
[PubMed: 10965800]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004019900175]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gabreels-Festen, A. A. W. M., Bolhuis, P. A., Hoogendijk, J. E., Valentijn, L. J., Eshuis, E. J. H. M., Gabreels, F. J. M.
|
|
<strong>Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication event versus PMP22 point mutations.</strong>
|
|
Acta Neuropath. 90: 645-649, 1995.
|
|
|
|
|
|
[PubMed: 8615087]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00318579]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gabreels-Festen, A. A. W. M., Joosten, E. M. G., Gabreels, F. J. M., Jennekens, F. G. I., Janssen-van Kempen, T. W.
|
|
<strong>Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).</strong>
|
|
J. Neurol. Sci. 107: 145-154, 1992.
|
|
|
|
|
|
[PubMed: 1564512]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(92)90282-p]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Garcia, C. A., Malamut, R. E., England, J. D., Parry, G. S., Liu, P., Lupski, J. R.
|
|
<strong>Clinical variability in two pairs of identical twins with Charcot-Marie-Tooth disease type 1A duplication.</strong>
|
|
Neurology 45: 2090-2093, 1995.
|
|
|
|
|
|
[PubMed: 7501164]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.45.11.2090]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gouvea, S. P., Borghetti, V. H. S., Bueno, K. C., Genari, A. B., Lourenco, C. M., Sobreira, C., Barreira, A. A., Marques, W., Jr.
|
|
<strong>Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.</strong>
|
|
Neurogenetics 11: 135-138, 2010.
|
|
|
|
|
|
[PubMed: 19705173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-009-0211-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Green, M. C.
|
|
<strong>Genetic variants and strains of the laboratory mouse.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Griffiths, J. D., Stark, R. J., Ding, J. C., Cooper, I. A.
|
|
<strong>Vincristine neurotoxicity in Charcot-Marie-Tooth syndrome.</strong>
|
|
Med. J. Aust. 143: 305-306, 1985.
|
|
|
|
|
|
[PubMed: 4046919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.5694/j.1326-5377.1985.tb123018.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hertz, J. M., Borglum, A. D., Brandt, C. A., Flint, T., Bisgaard, C.
|
|
<strong>Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.</strong>
|
|
Clin. Genet. 46: 291-294, 1994.
|
|
|
|
|
|
[PubMed: 7834893]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1994.tb04162.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hoogendijk, J. E., de Visser, M., Bolhuis, P. A., Hart, A. A. M., Ongerboer de Visser, B. W.
|
|
<strong>Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype.</strong>
|
|
Muscle Nerve 17: 85-90, 1994.
|
|
|
|
|
|
[PubMed: 8264707]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/mus.880170112]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hoogendijk, J. E., Hensels, G. W., Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., Janssen, E. A. M., De Jonghe, P., Martin, J.-J., Van Broeckhoven, C., Valentijn, L. J., Baas, F., de Visser, M., Bolhuis, P. A.
|
|
<strong>De-novo mutation in hereditary motor and sensory neuropathy type I.</strong>
|
|
Lancet 339: 1081-1082, 1992.
|
|
|
|
|
|
[PubMed: 1349106]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(92)90668-s]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huxley, C., Passage, E., Manson, A., Putzu, G., Figarella-Branger, D., Pellissier, J. F., Fontes, M.
|
|
<strong>Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.</strong>
|
|
Hum. Molec. Genet. 5: 563-569, 1996.
|
|
|
|
|
|
[PubMed: 8733121]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.5.563]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Katona, I., Wu, X., Feely, S. M., Sottile, S., Siskind, C. E., Miller, L. J., Shy, M. E., Li, J.
|
|
<strong>PMP22 expression in dermal nerve myelin from patients with CMT1A.</strong>
|
|
Brain 132: 1734-1740, 2009.
|
|
|
|
|
|
[PubMed: 19447823]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/awp113]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Khajavi, M., Inoue, K., Wisniewski, W., Ohyama, T., Snipes, G. J., Lupski, J. R.
|
|
<strong>Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.</strong>
|
|
Am. J. Hum. Genet. 77: 841-850, 2005.
|
|
|
|
|
|
[PubMed: 16252242]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/497541]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Khajavi, M., Shiga, K., Wiszniewski, W., He, F., Shaw, C. A., Yan, J., Wensel, T. G., Snipes, G. J., Lupski, J. R.
|
|
<strong>Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.</strong>
|
|
Am. J. Hum. Genet. 81: 438-453, 2007.
|
|
|
|
|
|
[PubMed: 17701891]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/519926]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
King, P. H., Waldrop, R., Lupski, J. R., Shaffer, L. G.
|
|
<strong>Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.</strong>
|
|
Clin. Genet. 54: 413-416, 1998.
|
|
|
|
|
|
[PubMed: 9842994]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1998.tb03755.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K.
|
|
<strong>A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.</strong>
|
|
Neurogenetics 5: 171-175, 2004.
|
|
|
|
|
|
[PubMed: 15205993]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-004-0184-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Lynch, E. D., Bird, T. D., Golbus, M. S., Barker, D. F., O'Connell, P., Chance, P. F.
|
|
<strong>Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type 1 (CMT1A) gene-region markers.</strong>
|
|
Am. J. Hum. Genet. 50: 42-55, 1992.
|
|
|
|
|
|
[PubMed: 1729894]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liehr, T., Rautenstrauss, B., Grehl, H., Bathke, K. D., Ekici, A., Rauch, A., Rott, H.-D.
|
|
<strong>Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.</strong>
|
|
Hum. Genet. 98: 22-28, 1996.
|
|
|
|
|
|
[PubMed: 8682501]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050154]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, P., Gelowani, V., Zhang, F., Drory, V. E., Ben-Shachar, S., Roney, E., Medeiros, A. C., Moore, R. J., DiVincenzo, C., Burnette, W. B., Higgins, J. J., Li, J., Orr-Urtreger, A., Lupski, J. R.
|
|
<strong>Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.</strong>
|
|
Am. J. Hum. Genet. 94: 462-469, 2014.
|
|
|
|
|
|
[PubMed: 24530202]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2014.01.017]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Garcia, C. A., Parry, G. J., Patel, P. I.
|
|
<strong>Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiological, and genetic aspects. In: Appel, S.: Current Neurology.</strong>
|
|
Chicago: Mosby-Yearbook (pub.) 1991. Pp. 1-25.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., Patel, P. I.
|
|
<strong>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Cell 66: 219-232, 1991.
|
|
|
|
|
|
[PubMed: 1677316]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(91)90613-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Pentao, L., Williams, L. L., Patel, P. I.
|
|
<strong>Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.</strong>
|
|
Am. J. Med. Genet. 45: 92-96, 1993.
|
|
|
|
|
|
[PubMed: 8418668]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320450122]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., Ledbetter, D. H., Greenberg, F., Patel, P. I.
|
|
<strong>Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Nature Genet. 1: 29-33, 1992.
|
|
|
|
|
|
[PubMed: 1301995]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0492-29]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matise, T. C., Chakravarti, A., Patel, P. I., Lupski, J. R., Nelis, E., Timmerman, V., Van Broeckhoven, C., Weeks, D. E.
|
|
<strong>Detection of tandem duplications and implications for linkage analysis.</strong>
|
|
Am. J. Hum. Genet. 54: 1110-1121, 1994.
|
|
|
|
|
|
[PubMed: 8198134]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McAlpine, P. J., Feasby, T. E., Hahn, A. F., Komarnicki, L., James, S., Guy, C., Dixon, M., Qayyum, S., Wright, J., Coopland, G., Lewis, M., Kaita, H., Philipps, S., Wong, P., Koopman, W., Cox, D. W., Yee, W. C.
|
|
<strong>Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.</strong>
|
|
Genomics 7: 408-415, 1990.
|
|
|
|
|
|
[PubMed: 2365358]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90175-t]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Melcangi, R. C., Magnaghi, V., Cavarretta, I., Zucchi, I., Bovolin, P., D'Urso, D., Martini, L.
|
|
<strong>Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: possible mechanisms of action.</strong>
|
|
J. Neurosci. Res. 56: 349-357, 1999.
|
|
|
|
|
|
[PubMed: 10340743]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1097-4547(19990515)56:4<349::AID-JNR3>3.0.CO;2-H]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meyer zu Horste, G. M., Prukop, T., Liebetanz, D., Mobius, W., Nave, K.-A., Sereda, M. W.
|
|
<strong>Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy.</strong>
|
|
Ann. Neurol. 61: 61-72, 2007. Note: Erratum: Ann. Neurol. 61: 282 only, 2007.
|
|
|
|
|
|
[PubMed: 17262851]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.21026]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H. R., Harding, A. E., Monteiro, C., Berciano, J., Malcolm, S.
|
|
<strong>Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.</strong>
|
|
Am. J. Hum. Genet. 46: 92-94, 1990.
|
|
|
|
|
|
[PubMed: 2294757]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H. R., Harding, A. E., Monteiro, C. J., Berciano, J., Malcolm, S.
|
|
<strong>Linkage of hereditary motor and sensory neuropathy type I (HMSNI) to the pericentromeric region of chromosome 17. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1044, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mostacciuolo, M. L., Righetti, E., Zortea, M., Bosello, V., Schiavon, F., Vallo, L., Merlini, L., Siciliano, G., Fabrizi, G. M., Rizzuto, N., Milani, M., Baratta, S., Taroni, F.
|
|
<strong>Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.</strong>
|
|
Hum. Mutat. 18: 32-41, 2001.
|
|
|
|
|
|
[PubMed: 11438991]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1147]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Naumann, R., Mohm, J., Reuner, U., Kroschinsky, F., Rautenstrauss, B., Ehninger, G.
|
|
<strong>Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity.</strong>
|
|
Brit. J. Haemat. 115: 323-325, 2001.
|
|
|
|
|
|
[PubMed: 11703329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2141.2001.03126.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nicholson, G. A., Mesterovic, N., Ross, D. A., Block, J., McLeod, J. G.
|
|
<strong>Linkage of the gene for Charcot-Marie-Tooth neuropathy. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1052-1053, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pareek, S,, Notterpek, L., Snipes, G. J., Naef, R., Sossin, W., Laliberte, J., Iacampo, S., Suter, U., Shooter, E. M., Murphy, R. A.
|
|
<strong>Neurons promote the translocation of peripheral myelin protein 22 into myelin.</strong>
|
|
J. Neurosci. 17: 7754-7762, 1997.
|
|
|
|
|
|
[PubMed: 9315897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1523/JNEUROSCI.17-20-07754.1997]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Passage, E., Norreel, J. C., Noack-Fraissignes, P., Sanguedolce, V., Pizant, J., Thirion, X., Robaglia-Schlupp, A., Pellissier, J. F., Fontes, M.
|
|
<strong>Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.</strong>
|
|
Nature Med. 10: 396-401, 2004.
|
|
|
|
|
|
[PubMed: 15034573]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm1023]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Patel, P. I., Franco, B., Garcia, C., Slaugenhaupt, S. A., Nakamura, Y., Ledbetter, D. H., Chakravarti, A., Lupski, J. R.
|
|
<strong>Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.</strong>
|
|
Am. J. Hum. Genet. 46: 801-809, 1990. Note: Erratum: Am. J. Hum. Genet. 47: 172 only, 1990.
|
|
|
|
|
|
[PubMed: 2316525]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Patel, P. I., Garcia, C., Montes de Oca-Luna, R., Malamut, R. I., Franco, B., Slaugenhaupt, S., Chakravarti, A., Lupski, J. R.
|
|
<strong>Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.</strong>
|
|
Am. J. Hum. Genet. 47: 926-934, 1990.
|
|
|
|
|
|
[PubMed: 1978559]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pellegrino, J. E., Pellegrino, L., Spinner, N. B., Sladky, J., Chance, P. F., Zackai, E. H.
|
|
<strong>Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.</strong>
|
|
Am. J. Med. Genet. 61: 377-381, 1996.
|
|
|
|
|
|
[PubMed: 8834051]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Perea, J., Robertson, A., Tomachova, T., Muddle, J., King, R. H. M., Ponsford, S., Thomas, P. K., Huxley, C.
|
|
<strong>Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Hum. Molec. Genet. 10: 1007-1018, 2001.
|
|
|
|
|
|
[PubMed: 11331611]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/10.10.1007]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Raeymaekers, P., Timmerman, V., De Jonghe, P., Swerts, L., Gheuens, J., Martin, J.-J., Muylle, L., De Winter, G., Vandenberghe, A., Van Broeckhoven, C.
|
|
<strong>Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).</strong>
|
|
Am. J. Hum. Genet. 45: 953-958, 1989.
|
|
|
|
|
|
[PubMed: 2589322]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Raskind, W. H., Williams, C. A., Hudson, L. D., Bird, T. D.
|
|
<strong>Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.</strong>
|
|
Am. J. Hum. Genet. 49: 1355-1360, 1991.
|
|
|
|
|
|
[PubMed: 1720927]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reilly, M. M.
|
|
<strong>Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!</strong>
|
|
Neurology 65: 186-187, 2005.
|
|
|
|
|
|
[PubMed: 16043782]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000173904.97549.94]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rosen, S. A., Wang, H., Cornblath, D. R., Uematsu, S., Hurko, O.
|
|
<strong>Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I.</strong>
|
|
Neurology 39: 1173-1177, 1989.
|
|
|
|
|
|
[PubMed: 2771067]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.39.9.1173]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sahenk, Z., Nagaraja, H. N., McCracken, B. S., King, W. M., Freimer, M. L., Cedarbaum, J. M., Mendell, J. R.
|
|
<strong>NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients.</strong>
|
|
Neurology 65: 681-689, 2005.
|
|
|
|
|
|
[PubMed: 16157899]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000171978.70849.c5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E.
|
|
<strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong>
|
|
Ann. Neurol. 69: 22-33, 2011.
|
|
|
|
|
|
[PubMed: 21280073]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.22166]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schiavon, F., Mostacciuolo, M. L., Saad, F., Merlini, L., Siciliano, G., Angelini, C., Danieli, G. A.
|
|
<strong>Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.</strong>
|
|
J. Med. Genet. 31: 880-883, 1994.
|
|
|
|
|
|
[PubMed: 7853375]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.31.11.880]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Selles, R. W., van Ginneken, B. T. J., Schreuders, T. A. R., Janssen, W. G. M., Stam, H. J.
|
|
<strong>Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease.</strong>
|
|
Neurology 67: 2022-2027, 2006.
|
|
|
|
|
|
[PubMed: 17159111]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000247272.96136.16]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sereda, M. W., Meyer zu Horste, G., Suter, U., Uzma, N., Nave, K.-A.
|
|
<strong>Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). (Letter)</strong>
|
|
Nature Med. 9: 1533-1537, 2003.
|
|
|
|
|
|
[PubMed: 14608378]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm957]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shy, M. E., Chen, L., Swan, E. R., Taube, R., Krajewski, K. M., Herrmann, D., Lewis, R. A., McDermott, M. P.
|
|
<strong>Neuropathy progression in Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Neurology 70: 378-383, 2008.
|
|
|
|
|
|
[PubMed: 18227419]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000297553.36441.ce]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sorour, E., Thompson, P., MacMillan, J., Upadhyaya, M.
|
|
<strong>Inheritance of CMT1A duplication from a mosaic father.</strong>
|
|
J. Med. Genet. 32: 483-485, 1995.
|
|
|
|
|
|
[PubMed: 7666403]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.32.6.483]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suter, U., Moskow, J. J., Welcher, A. A., Snipes, G. J., Kosaras, B., Sidman, R. L., Buchberg, A. M., Shooter, E. M.
|
|
<strong>A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 4382-4386, 1992.
|
|
|
|
|
|
[PubMed: 1374899]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.10.4382]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suter, U., Patel, P. I.
|
|
<strong>Genetic basis of inherited peripheral neuropathies.</strong>
|
|
Hum. Mutat. 3: 95-102, 1994.
|
|
|
|
|
|
[PubMed: 7515304]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380030203]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suter, U., Welcher, A. A., Ozcelik, T., Snipes, G. J., Kosaras, B., Francke, U., Billings-Gagliardi, S., Sidman, R. L., Shooter, E. M.
|
|
<strong>Trembler mouse carries a point mutation in a myelin gene.</strong>
|
|
Nature 356: 241-244, 1992.
|
|
|
|
|
|
[PubMed: 1552943]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/356241a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Swan, E. R., Fuerst, D. R., Shy, M. E.
|
|
<strong>Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Neurology 68: 873 only, 2007.
|
|
|
|
|
|
[PubMed: 17353481]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000256818.43819.da]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Timmerman, V., Raeymaekers, P., De Jonghe, P., De Winter, G., Swerts, L., Jacobs, K., Gheuens, J., Martin, J.-J., Vandenberghe, A., Van Broeckhoven, C.
|
|
<strong>Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.</strong>
|
|
Am. J. Hum. Genet. 47: 680-685, 1990.
|
|
|
|
|
|
[PubMed: 2220808]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den Bosch, N. H. A., Zorn, I., Gabreels-Festen, A. A. W. M., de Visser, M., Bolhuis, P. A.
|
|
<strong>Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.</strong>
|
|
Nature Genet. 2: 288-291, 1992.
|
|
|
|
|
|
[PubMed: 1303281]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1292-288]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vance, J. M., Barker, D., Yamaoka, L. H., Stajich, J. M., Loprest, L., Hung, W.-Y., Fischbeck, K., Roses, A. D., Pericak-Vance, M. A.
|
|
<strong>Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.</strong>
|
|
Genomics 9: 623-628, 1991.
|
|
|
|
|
|
[PubMed: 1674726]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90355-i]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vance, J. M., Nicholson, G., Yamaoka, L. H., Stajich, J., Stewart, C. S., Speer, C., Hung, W.-Y., Roses, A. D., Barker, D., Gaskell, P. C., Pericak-Vance, M. A.
|
|
<strong>Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1097-1098, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vance, J. M.
|
|
<strong>Hereditary motor and sensory neuropathies.</strong>
|
|
J. Med. Genet. 28: 1-5, 1991.
|
|
|
|
|
|
[PubMed: 1999826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.28.1.1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Videler, A. J., van Dijk, J. P., Beelen, A., de Visser, M., Nollet, F., van Schaik, I. N.
|
|
<strong>Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a.</strong>
|
|
Neurology 71: 1254-1260, 2008.
|
|
|
|
|
|
[PubMed: 18852440]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000327643.05073.eb]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weiden, P. L., Wright, S. E.
|
|
<strong>Vincristine neurotoxicity.</strong>
|
|
New Eng. J. Med. 286: 1369-1370, 1972.
|
|
|
|
|
|
[PubMed: 5027400]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weterman, M. A. J., van Ruissen, F., de Wissel, M., Bordewijk, L., Samijn, J. P. A., van der Pol, W. L., Meggouh, F., Baas, F.
|
|
<strong>Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.</strong>
|
|
Europ. J. Hum. Genet. 18: 421-428, 2010.
|
|
|
|
|
|
[PubMed: 19888301]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2009.186]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wulfsberg, E. A., Weaver, R. P., Cunniff, C. M., Jones, M. C., Jones, K. L.
|
|
<strong>Chromosome 10qter deletion syndrome: a review and report of three new cases.</strong>
|
|
Am. J. Med. Genet. 32: 364-367, 1989.
|
|
|
|
|
|
[PubMed: 2658586]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320320319]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
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|
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Cassandra L. Kniffin - updated : 4/23/2014<br>Cassandra L. Kniffin - updated : 12/15/2011<br>Cassandra L. Kniffin - updated : 11/22/2011<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 3/23/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 1/31/2008<br>Cassandra L. Kniffin - updated : 11/6/2007<br>Cassandra L. Kniffin - updated : 10/12/2007<br>Cassandra L. Kniffin - updated : 8/15/2007<br>Cassandra L. Kniffin - updated : 11/10/2005<br>Cassandra L. Kniffin - updated : 10/25/2004<br>Cassandra L. Kniffin - updated : 3/24/2004<br>Cassandra L. Kniffin - updated : 12/4/2003<br>Cassandra L. Kniffin - updated : 5/1/2003<br>Cassandra L. Kniffin - reorganized : 4/25/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Victor A. McKusick - updated : 5/9/2002<br>Victor A. McKusick - updated : 2/6/2002<br>George E. Tiller - updated : 10/8/2001<br>Victor A. McKusick - updated : 7/24/2001<br>Ada Hamosh - updated : 4/26/2001<br>Victor A. McKusick - updated : 12/19/2000<br>George E. Tiller - updated : 9/22/2000<br>George E. Tiller - updated : 3/23/2000<br>Orest Hurko - updated : 6/14/1999<br>Victor A. McKusick - updated : 6/23/1997<br>Moyra Smith - updated : 1/27/1997<br>Moyra Smith - Updated : 6/13/1996<br>Moyra Smith - Updated : 5/25/1996<br>Orest Hurko - updated : 4/2/1996<br>Orest Hurko - updated : 4/1/1996<br>Orest Hurko - updated : 3/22/1996
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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