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<meta name="keywords" content="C1844873, charcot marie tooth disease x-linked recessive 2, charcot-marie-tooth disease x-linked recessive 2, charcot-marie-tooth disease x-linked recessive type 2, charcot-marie-tooth disease, x-linked recessive, 2, charcot-marie-tooth neuropathy x type 2, charcot-marie-tooth neuropathy x-linked recessive 2, charcot-marie-tooth neuropathy, x-linked recessive, 2, charcot-marie-tooth neuropathy, x-linked recessive, 2, x-linked recessive, cmtx 2, cmtx2, disease or syndrome, x-linked charcot-marie-tooth disease type 2, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=336803
|
||
ConceptID=C1844873
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Charcot-Marie-Tooth disease X-linked recessive 2<span class="h1sub">(CMTX2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336803</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Charcot-Marie-Tooth Neuropathy X Type 2; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2; CMTX 2</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>X-linked Charcot-Marie-Tooth disease type 2 (763457000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010550" target="_blank">MONDO:0010550</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/302801" target="_blank">302801</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101076">ORPHA101076</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_305607"><div><strong>Upper limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>305607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1698196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles of the arms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/305607">Feature record</a> | <a href="/medgen?term=%22Upper%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20305607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356163"><div><strong>Foot dorsiflexor weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356163</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356163">Feature record</a> | <a href="/medgen?term=%22Foot%20dorsiflexor%20weakness%22%5BClinical%20Features%5D%20OR%20356163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18386"><div><strong>Peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18386</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0031117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18386">Feature record</a> | <a href="/medgen?term=%22Peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2018386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115943"><div><strong>Areflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115943</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115943">Feature record</a> | <a href="/medgen?term=%22Areflexia%22%5BClinical%20Features%5D%20OR%20115943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98105"><div><strong>Steppage gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98105</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0427149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98105">Feature record</a> | <a href="/medgen?term=%22Steppage%20gait%22%5BClinical%20Features%5D%20OR%2098105%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335722"><div><strong>Distal sensory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335722</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1847584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in sensation in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335722">Feature record</a> | <a href="/medgen?term=%22Distal%20sensory%20impairment%22%5BClinical%20Features%5D%20OR%20335722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_388130"><div><strong>Decreased motor nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388130</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of decreased nerve conduction velocity that affects the motor neuron.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388130">Feature record</a> | <a href="/medgen?term=%22Decreased%20motor%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20388130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338530"><div><strong>Distal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338530</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy affecting muscles in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338530">Feature record</a> | <a href="/medgen?term=%22Distal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20338530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871138"><div><strong>EMG: axonal abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871138</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025609</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871138">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20axonal%20abnormality%22%5BClinical%20Features%5D%20OR%20871138%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foot dorsiflexor weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_305607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upper limb muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: axonal abnormality</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_388130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased motor nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal sensory impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steppage gait</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0007959[DISCUI]&test_type=Clinical" ref="ncbi_uid=2980">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2980" target="_blank" href="/omim/118200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=2980">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2980" ref="ncbi_uid=2980">V</a></span></span><span class="TLline"><a href="/medgen/2980" ref="tree=GTR&ncbi_uid=2980&link_uid=2980" title="View MedGen record for 'Charcot-Marie-Tooth disease'">Charcot-Marie-Tooth disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842237[DISCUI]&test_type=Clinical" ref="ncbi_uid=334023">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334023" target="_blank" href="/omim/603623">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334023" ref="ncbi_uid=334023">V</a></span></span><span class="TLline"><a href="/medgen/334023" ref="tree=GTR&ncbi_uid=334023&link_uid=334023" title="View MedGen record for 'Charcot-Marie-Tooth disease dominant intermediate C'">Charcot-Marie-Tooth disease dominant intermediate C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4302667[DISCUI]&test_type=Clinical" ref="ncbi_uid=928336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=928336" target="_blank" href="/omim/610982">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=928336" ref="ncbi_uid=928336">V</a></span></span><span class="TLline"><a href="/medgen/928336" ref="tree=GTR&ncbi_uid=928336&link_uid=928336" title="View MedGen record for 'Charcot-Marie-Tooth disease dominant intermediate E'">Charcot-Marie-Tooth disease dominant intermediate E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4749463[DISCUI]&test_type=Clinical" ref="ncbi_uid=1666273">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1666273" target="_blank" href="/omim/610863">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1666273" ref="ncbi_uid=1666273">V</a></span></span><span class="TLline"><a href="/medgen/1666273" ref="tree=GTR&ncbi_uid=1666273&link_uid=1666273" title="View MedGen record for 'Charcot-Marie-Tooth disease dominant intermediate F'">Charcot-Marie-Tooth disease dominant intermediate F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270914[DISCUI]&test_type=Clinical" ref="ncbi_uid=124378">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=124378">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124378" ref="ncbi_uid=124378">V</a></span></span><span class="TLline"><a href="/medgen/124378" ref="tree=GTR&ncbi_uid=124378&link_uid=124378" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2'">Charcot-Marie-Tooth disease type 2</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842984[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=334294">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334294" target="_blank" href="/omim/606598">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334294" ref="ncbi_uid=334294">V</a></span></span><span class="TLline"><a href="/medgen/334294" ref="tree=GTR&ncbi_uid=334294&link_uid=334294" title="View MedGen record for 'Autosomal dominant Charcot-Marie-Tooth disease type 2K'">Autosomal dominant Charcot-Marie-Tooth disease type 2K</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4304672[DISCUI]&test_type=Clinical" ref="ncbi_uid=930341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=930341" ref="ncbi_uid=930341">V</a></span></span><span class="TLline"><a href="/medgen/930341" ref="tree=GTR&ncbi_uid=930341&link_uid=930341" title="View MedGen record for 'Autosomal dominant Charcot-Marie-Tooth disease type 2M'">Autosomal dominant Charcot-Marie-Tooth disease type 2M</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853710[DISCUI]&test_type=Clinical" ref="ncbi_uid=342947">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342947" target="_blank" href="/omim/605427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK201366)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=342947">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342947" ref="ncbi_uid=342947">V</a></span></span><span class="TLline"><a href="/medgen/342947" ref="tree=GTR&ncbi_uid=342947&link_uid=342947" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2C'">Charcot-Marie-Tooth disease axonal type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847823[DISCUI]&test_type=Clinical" ref="ncbi_uid=335784">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335784" target="_blank" href="/omim/602195">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=335784">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335784" ref="ncbi_uid=335784">V</a></span></span><span class="TLline"><a href="/medgen/335784" ref="tree=GTR&ncbi_uid=335784&link_uid=335784" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2F'">Charcot-Marie-Tooth disease axonal type 2F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843173[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=334344">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334344" target="_blank" href="/omim/607731">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334344" ref="tree=GTR&ncbi_uid=334344&link_uid=334344" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2H'">Charcot-Marie-Tooth disease axonal type 2H</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842983[DISCUI]&test_type=Clinical" ref="ncbi_uid=375064">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375064" target="_blank" href="/omim/606598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=375064">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375064" ref="ncbi_uid=375064">V</a></span></span><span class="TLline"><a href="/medgen/375064" ref="tree=GTR&ncbi_uid=375064&link_uid=375064" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2K'">Charcot-Marie-Tooth disease axonal type 2K</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837552[DISCUI]&test_type=Clinical" ref="ncbi_uid=324826">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324826" target="_blank" href="/omim/608014">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324826" ref="ncbi_uid=324826">V</a></span></span><span class="TLline"><a href="/medgen/324826" ref="tree=GTR&ncbi_uid=324826&link_uid=324826" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2L'">Charcot-Marie-Tooth disease axonal type 2L</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750090[DISCUI]&test_type=Clinical" ref="ncbi_uid=413754">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413754" target="_blank" href="/omim/601065">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413754" ref="ncbi_uid=413754">V</a></span></span><span class="TLline"><a href="/medgen/413754" ref="tree=GTR&ncbi_uid=413754&link_uid=413754" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2N'">Charcot-Marie-Tooth disease axonal type 2N</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280220[DISCUI]&test_type=Clinical" ref="ncbi_uid=481850">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481850" target="_blank" href="/omim/600112">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK601997/" ref="ncbi_uid=481850">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481850" ref="ncbi_uid=481850">V</a></span></span><span class="TLline"><a href="/medgen/481850" ref="tree=GTR&ncbi_uid=481850&link_uid=481850" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2O'">Charcot-Marie-Tooth disease axonal type 2O</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833219[DISCUI]&test_type=Clinical" ref="ncbi_uid=371512">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371512" target="_blank" href="/omim/600882">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=371512">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371512" ref="ncbi_uid=371512">V</a></span></span><span class="TLline"><a href="/medgen/371512" ref="tree=GTR&ncbi_uid=371512&link_uid=371512" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2B'">Charcot-Marie-Tooth disease type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843225[DISCUI]&test_type=Clinical" ref="ncbi_uid=375127">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375127" target="_blank" href="/omim/162280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375127" ref="ncbi_uid=375127">V</a></span></span><span class="TLline"><a href="/medgen/375127" ref="tree=GTR&ncbi_uid=375127&link_uid=375127" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2E'">Charcot-Marie-Tooth disease type 2E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888087[DISCUI]&test_type=Clinical" ref="ncbi_uid=854756">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854756" target="_blank" href="/omim/159440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854756" ref="ncbi_uid=854756">V</a></span></span><span class="TLline"><a href="/medgen/854756" ref="tree=GTR&ncbi_uid=854756&link_uid=854756" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2I'">Charcot-Marie-Tooth disease type 2I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843153[DISCUI]&test_type=Clinical" ref="ncbi_uid=375107">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375107" target="_blank" href="/omim/159440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375107" ref="ncbi_uid=375107">V</a></span></span><span class="TLline"><a href="/medgen/375107" ref="tree=GTR&ncbi_uid=375107&link_uid=375107" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2J'">Charcot-Marie-Tooth disease type 2J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2079538[DISCUI]&test_type=Clinical" ref="ncbi_uid=389169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1511/" ref="ncbi_uid=389169">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=389169" ref="ncbi_uid=389169">V</a></span></span><span class="TLline"><a href="/medgen/389169" ref="tree=GTR&ncbi_uid=389169&link_uid=389169" title="View MedGen record for 'Charcot-Marie-Tooth disease, type 2A'">Charcot-Marie-Tooth disease, type 2A</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861678[DISCUI]&test_type=Clinical" ref="ncbi_uid=350076">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350076" target="_blank" href="/omim/118210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1511/" ref="ncbi_uid=350076">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350076" ref="ncbi_uid=350076">V</a></span></span><span class="TLline"><a href="/medgen/350076" ref="tree=GTR&ncbi_uid=350076&link_uid=350076" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2A1'">Charcot-Marie-Tooth disease type 2A1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721887[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648317">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648317" target="_blank" href="/omim/609260">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK1511)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1648317">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648317" ref="ncbi_uid=1648317">V</a></span></span><span class="TLline"><a href="/medgen/1648317" ref="tree=GTR&ncbi_uid=1648317&link_uid=1648317" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2A2'">Charcot-Marie-Tooth disease type 2A2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118848[DISCUI]&test_type=Clinical" ref="ncbi_uid=468444">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468444" ref="tree=GTR&ncbi_uid=468444&link_uid=468444" title="View MedGen record for 'Charcot-Marie-Tooth Neuropathy Type 2H/2K'">Charcot-Marie-Tooth Neuropathy Type 2H/2K</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118836[DISCUI]&test_type=Clinical" ref="ncbi_uid=468432">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1242/" ref="ncbi_uid=468432">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468432" ref="ncbi_uid=468432">V</a></span></span><span class="TLline"><a href="/medgen/468432" ref="tree=GTR&ncbi_uid=468432&link_uid=468432" title="View MedGen record for 'GARS-Associated Axonal Neuropathy'">GARS-Associated Axonal Neuropathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832274[DISCUI]&test_type=Clinical" ref="ncbi_uid=316946">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=316946" target="_blank" href="/omim/600287">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1242%20OR%20NBK1358)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=316946">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=316946" ref="ncbi_uid=316946">V</a></span></span><span class="TLline"><a href="/medgen/316946" ref="tree=GTR&ncbi_uid=316946&link_uid=316946" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2D'">Charcot-Marie-Tooth disease type 2D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN031873[DISCUI]&test_type=Clinical" ref="ncbi_uid=1848393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1242%20OR%20NBK1307%20OR%20NBK1358)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1848393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1848393" ref="ncbi_uid=1848393">V</a></span></span><span class="TLline"><a href="/medgen/1848393" ref="tree=GTR&ncbi_uid=1848393&link_uid=1848393" title="View MedGen record for 'Neuronopathy, distal hereditary motor, type 5A'">Neuronopathy, distal hereditary motor, type 5A</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4082197[DISCUI]&test_type=Clinical" ref="ncbi_uid=905419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=905419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=905419" ref="ncbi_uid=905419">V</a></span></span><span class="TLline"><a href="/medgen/905419" ref="tree=GTR&ncbi_uid=905419&link_uid=905419" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4'">Charcot-Marie-Tooth disease type 4</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859198[DISCUI]&test_type=Clinical" ref="ncbi_uid=347821">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347821" target="_blank" href="/omim/214400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK1539)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=347821">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347821" ref="ncbi_uid=347821">V</a></span></span><span class="TLline"><a href="/medgen/347821" ref="tree=GTR&ncbi_uid=347821&link_uid=347821" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4A'">Charcot-Marie-Tooth disease type 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832399[DISCUI]&test_type=Clinical" ref="ncbi_uid=321947">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321947" target="_blank" href="/omim/601382">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321947" ref="ncbi_uid=321947">V</a></span></span><span class="TLline"><a href="/medgen/321947" ref="tree=GTR&ncbi_uid=321947&link_uid=321947" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4B1'">Charcot-Marie-Tooth disease type 4B1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858278[DISCUI]&test_type=Clinical" ref="ncbi_uid=346869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346869" target="_blank" href="/omim/604563">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346869" ref="ncbi_uid=346869">V</a></span></span><span class="TLline"><a href="/medgen/346869" ref="tree=GTR&ncbi_uid=346869&link_uid=346869" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4B2'">Charcot-Marie-Tooth disease type 4B2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866636[DISCUI]&test_type=Clinical" ref="ncbi_uid=356581">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356581" target="_blank" href="/omim/601596">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1340%20OR%20NBK1358)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=356581">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356581" ref="ncbi_uid=356581">V</a></span></span><span class="TLline"><a href="/medgen/356581" ref="tree=GTR&ncbi_uid=356581&link_uid=356581" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4C'">Charcot-Marie-Tooth disease type 4C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832334[DISCUI]&test_type=Clinical" ref="ncbi_uid=371304">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371304" target="_blank" href="/omim/601455">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371304" ref="ncbi_uid=371304">V</a></span></span><span class="TLline"><a href="/medgen/371304" ref="tree=GTR&ncbi_uid=371304&link_uid=371304" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4D'">Charcot-Marie-Tooth disease type 4D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721436[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648303">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648303" target="_blank" href="/omim/129010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648303" ref="ncbi_uid=1648303">V</a></span></span><span class="TLline"><a href="/medgen/1648303" ref="tree=GTR&ncbi_uid=1648303&link_uid=1648303" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4E'">Charcot-Marie-Tooth disease type 4E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3540453[DISCUI]&test_type=Clinical" ref="ncbi_uid=761704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761704" target="_blank" href="/omim/614895">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=761704">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761704" ref="ncbi_uid=761704">V</a></span></span><span class="TLline"><a href="/medgen/761704" ref="tree=GTR&ncbi_uid=761704&link_uid=761704" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4F'">Charcot-Marie-Tooth disease type 4F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854449[DISCUI]&test_type=Clinical" ref="ncbi_uid=343122">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343122" target="_blank" href="/omim/142600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343122" ref="ncbi_uid=343122">V</a></span></span><span class="TLline"><a href="/medgen/343122" ref="tree=GTR&ncbi_uid=343122&link_uid=343122" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4G'">Charcot-Marie-Tooth disease type 4G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836336[DISCUI]&test_type=Clinical" ref="ncbi_uid=324487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324487" target="_blank" href="/omim/609311">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=324487">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324487" ref="ncbi_uid=324487">V</a></span></span><span class="TLline"><a href="/medgen/324487" ref="tree=GTR&ncbi_uid=324487&link_uid=324487" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4H'">Charcot-Marie-Tooth disease type 4H</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970011[DISCUI]&test_type=Clinical" ref="ncbi_uid=370808">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370808" target="_blank" href="/omim/609390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=370808">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370808" ref="ncbi_uid=370808">V</a></span></span><span class="TLline"><a href="/medgen/370808" ref="tree=GTR&ncbi_uid=370808&link_uid=370808" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4J'">Charcot-Marie-Tooth disease type 4J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0011195[DISCUI]&test_type=Clinical" ref="ncbi_uid=3710">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=3710" target="_blank" href="/omim/145900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3710" ref="ncbi_uid=3710">V</a></span></span><span class="TLline"><a href="/medgen/3710" ref="tree=GTR&ncbi_uid=3710&link_uid=3710" title="View MedGen record for 'Dejerine-Sottas disease'">Dejerine-Sottas disease</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751036[DISCUI]&test_type=Clinical" ref="ncbi_uid=155486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155486" target="_blank" href="/omim/118200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=155486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155486" ref="ncbi_uid=155486">V</a></span></span><span class="TLline"><a href="/medgen/155486" ref="tree=GTR&ncbi_uid=155486&link_uid=155486" title="View MedGen record for 'Charcot-Marie-Tooth disease, type I'">Charcot-Marie-Tooth disease, type I</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270912[DISCUI]&test_type=Clinical" ref="ncbi_uid=124377">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=124377" target="_blank" href="/omim/118200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=124377">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124377" ref="ncbi_uid=124377">V</a></span></span><span class="TLline"><a href="/medgen/124377" ref="tree=GTR&ncbi_uid=124377&link_uid=124377" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1B'">Charcot-Marie-Tooth disease type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270913[DISCUI]&test_type=Clinical" ref="ncbi_uid=75728">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75728" target="_blank" href="/omim/601098">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75728" ref="ncbi_uid=75728">V</a></span></span><span class="TLline"><a href="/medgen/75728" ref="tree=GTR&ncbi_uid=75728&link_uid=75728" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1C'">Charcot-Marie-Tooth disease type 1C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843247[DISCUI]&test_type=Clinical" ref="ncbi_uid=334709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334709" target="_blank" href="/omim/129010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334709" ref="ncbi_uid=334709">V</a></span></span><span class="TLline"><a href="/medgen/334709" ref="tree=GTR&ncbi_uid=334709&link_uid=334709" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1D'">Charcot-Marie-Tooth disease type 1D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3495591[DISCUI]&test_type=Clinical" ref="ncbi_uid=501212">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501212" target="_blank" href="/omim/118300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501212" ref="ncbi_uid=501212">V</a></span></span><span class="TLline"><a href="/medgen/501212" ref="tree=GTR&ncbi_uid=501212&link_uid=501212" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1E'">Charcot-Marie-Tooth disease type 1E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843164[DISCUI]&test_type=Clinical" ref="ncbi_uid=334337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334337" target="_blank" href="/omim/162280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334337" ref="ncbi_uid=334337">V</a></span></span><span class="TLline"><a href="/medgen/334337" ref="tree=GTR&ncbi_uid=334337&link_uid=334337" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1F'">Charcot-Marie-Tooth disease type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270911[DISCUI]&test_type=Clinical" ref="ncbi_uid=75727">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75727" target="_blank" href="/omim/118220">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75727" ref="ncbi_uid=75727">V</a></span></span><span class="TLline"><a href="/medgen/75727" ref="tree=GTR&ncbi_uid=75727&link_uid=75727" title="View MedGen record for 'Charcot-Marie-Tooth disease, type IA'">Charcot-Marie-Tooth disease, type IA</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118851[DISCUI]&test_type=Clinical" ref="ncbi_uid=468447">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=468447">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468447" ref="ncbi_uid=468447">V</a></span></span><span class="TLline"><a href="/medgen/468447" ref="tree=GTR&ncbi_uid=468447&link_uid=468447" title="View MedGen record for 'Charcot-Marie-Tooth Neuropathy X'">Charcot-Marie-Tooth Neuropathy X</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0393808[DISCUI]&test_type=Clinical" ref="ncbi_uid=98290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98290" target="_blank" href="/omim/302800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK1374)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=98290">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98290" ref="ncbi_uid=98290">V</a></span></span><span class="TLline"><a href="/medgen/98290" ref="tree=GTR&ncbi_uid=98290&link_uid=98290" title="View MedGen record for 'Charcot-Marie-Tooth disease X-linked dominant 1'">Charcot-Marie-Tooth disease X-linked dominant 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1844873[DISCUI]&test_type=Clinical" ref="ncbi_uid=336803">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336803" target="_blank" href="/omim/302801">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=336803">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Charcot-Marie-Tooth disease X-linked recessive 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1844865[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=375530">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375530" target="_blank" href="/omim/302802">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=375530">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/375530" ref="tree=GTR&ncbi_uid=375530&link_uid=375530" title="View MedGen record for 'Charcot-Marie-Tooth disease X-linked recessive 3'">Charcot-Marie-Tooth disease X-linked recessive 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795910[DISCUI]&test_type=Clinical" ref="ncbi_uid=162891">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162891" target="_blank" href="/omim/300169">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=162891">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=162891" ref="ncbi_uid=162891">V</a></span></span><span class="TLline"><a href="/medgen/162891" ref="tree=GTR&ncbi_uid=162891&link_uid=162891" title="View MedGen record for 'Charcot-Marie-Tooth disease X-linked recessive 4'">Charcot-Marie-Tooth disease X-linked recessive 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1839566[DISCUI]&test_type=Clinical" ref="ncbi_uid=374254">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374254" target="_blank" href="/omim/258650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK2591)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=374254">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374254" ref="ncbi_uid=374254">V</a></span></span><span class="TLline"><a href="/medgen/374254" ref="tree=GTR&ncbi_uid=374254&link_uid=374254" title="View MedGen record for 'Charcot-Marie-Tooth disease X-linked recessive 5'">Charcot-Marie-Tooth disease X-linked recessive 5</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1637021" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type X">Charcot-Marie-Tooth disease type X</a></span><ul><li><span class="matched_ds">Charcot-Marie-Tooth disease X-linked recessive 2</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=14787&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Charcot-Marie-Tooth disease X-linked recessive 2</span> in Orphanet.</div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_105">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20225027">Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicholson G,
|
||
Kennerson M,
|
||
Brewer M,
|
||
Garbern J,
|
||
Shy M</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2009;652:201-6.
|
||
doi: 10.1007/978-90-481-2813-6_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20225027" target="_blank">20225027</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16106622">Genetic evaluation of inherited motor/sensory neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chance PF</span><br />
|
||
<span class="medgenPMjournal">Suppl Clin Neurophysiol</span>
|
||
2004;57:228-42.
|
||
doi: 10.1016/s1567-424x(09)70360-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16106622" target="_blank">16106622</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(charcot-marie-tooth%20disease%20x-linked%20recessive%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36445400">Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zambon AA,
|
||
Pini V,
|
||
Bosco L,
|
||
Falzone YM,
|
||
Munot P,
|
||
Muntoni F,
|
||
Previtali SC</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Mar 1;146(3):806-822.
|
||
doi: 10.1093/brain/awac452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36445400" target="_blank">36445400</a><a href="/pmc/articles/PMC9976982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29626178">Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanhangad M,
|
||
Cornett K,
|
||
Brewer MH,
|
||
Nicholson GA,
|
||
Ryan MM,
|
||
Smith RL,
|
||
Subramanian GM,
|
||
Young HK,
|
||
Züchner S,
|
||
Kennerson ML,
|
||
Burns J,
|
||
Menezes MP</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 May 8;90(19):e1706-e1710.
|
||
Epub 2018 Apr 6
|
||
doi: 10.1212/WNL.0000000000005479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29626178" target="_blank">29626178</a><a href="/pmc/articles/PMC10681066" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/16924012">Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azzedine H,
|
||
Ravisé N,
|
||
Verny C,
|
||
Gabrëels-Festen A,
|
||
Lammens M,
|
||
Grid D,
|
||
Vallat JM,
|
||
Durosier G,
|
||
Senderek J,
|
||
Nouioua S,
|
||
Hamadouche T,
|
||
Bouhouche A,
|
||
Guilbot A,
|
||
Stendel C,
|
||
Ruberg M,
|
||
Brice A,
|
||
Birouk N,
|
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Dubourg O,
|
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Tazir M,
|
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LeGuern E</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
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2006 Aug 22;67(4):602-6.
|
||
doi: 10.1212/01.wnl.0000230225.19797.93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16924012" target="_blank">16924012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16775366">Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Houlden H,
|
||
Reilly MM</span><br />
|
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<span class="medgenPMjournal">Neuromolecular Med</span>
|
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2006;8(1-2):43-62.
|
||
doi: 10.1385/nmm:8:1-2:43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16775366" target="_blank">16775366</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20X-linked%20recessive%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36445400">Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zambon AA,
|
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Pini V,
|
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Bosco L,
|
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Falzone YM,
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Munot P,
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Muntoni F,
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Previtali SC</span><br />
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<span class="medgenPMjournal">Brain</span>
|
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2023 Mar 1;146(3):806-822.
|
||
doi: 10.1093/brain/awac452.
|
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<span class="bold">PMID: </span><a href="/pubmed/36445400" target="_blank">36445400</a><a href="/pmc/articles/PMC9976982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622398">Inborn errors of copper metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaler SG</span><br />
|
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<span class="medgenPMjournal">Handb Clin Neurol</span>
|
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2013;113:1745-54.
|
||
doi: 10.1016/B978-0-444-59565-2.00045-9.
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<span class="bold">PMID: </span><a href="/pubmed/23622398" target="_blank">23622398</a><a href="/pmc/articles/PMC4214864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17410579">Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ouvrier R,
|
||
Geevasingha N,
|
||
Ryan MM</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2007 Aug;36(2):131-43.
|
||
doi: 10.1002/mus.20776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17410579" target="_blank">17410579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12901697">Dominantly inherited peripheral neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallat JM</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
2003 Jul;62(7):699-714.
|
||
doi: 10.1093/jnen/62.7.699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12901697" target="_blank">12901697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20X-linked%20recessive%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622398">Inborn errors of copper metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaler SG</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1745-54.
|
||
doi: 10.1016/B978-0-444-59565-2.00045-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622398" target="_blank">23622398</a><a href="/pmc/articles/PMC4214864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20X-linked%20recessive%202%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622398">Inborn errors of copper metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaler SG</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1745-54.
|
||
doi: 10.1016/B978-0-444-59565-2.00045-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622398" target="_blank">23622398</a><a href="/pmc/articles/PMC4214864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16924012">Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azzedine H,
|
||
Ravisé N,
|
||
Verny C,
|
||
Gabrëels-Festen A,
|
||
Lammens M,
|
||
Grid D,
|
||
Vallat JM,
|
||
Durosier G,
|
||
Senderek J,
|
||
Nouioua S,
|
||
Hamadouche T,
|
||
Bouhouche A,
|
||
Guilbot A,
|
||
Stendel C,
|
||
Ruberg M,
|
||
Brice A,
|
||
Birouk N,
|
||
Dubourg O,
|
||
Tazir M,
|
||
LeGuern E</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Aug 22;67(4):602-6.
|
||
doi: 10.1212/01.wnl.0000230225.19797.93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16924012" target="_blank">16924012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20X-linked%20recessive%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29626178">Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanhangad M,
|
||
Cornett K,
|
||
Brewer MH,
|
||
Nicholson GA,
|
||
Ryan MM,
|
||
Smith RL,
|
||
Subramanian GM,
|
||
Young HK,
|
||
Züchner S,
|
||
Kennerson ML,
|
||
Burns J,
|
||
Menezes MP</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 May 8;90(19):e1706-e1710.
|
||
Epub 2018 Apr 6
|
||
doi: 10.1212/WNL.0000000000005479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29626178" target="_blank">29626178</a><a href="/pmc/articles/PMC10681066" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17410579">Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ouvrier R,
|
||
Geevasingha N,
|
||
Ryan MM</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2007 Aug;36(2):131-43.
|
||
doi: 10.1002/mus.20776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17410579" target="_blank">17410579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16924012">Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azzedine H,
|
||
Ravisé N,
|
||
Verny C,
|
||
Gabrëels-Festen A,
|
||
Lammens M,
|
||
Grid D,
|
||
Vallat JM,
|
||
Durosier G,
|
||
Senderek J,
|
||
Nouioua S,
|
||
Hamadouche T,
|
||
Bouhouche A,
|
||
Guilbot A,
|
||
Stendel C,
|
||
Ruberg M,
|
||
Brice A,
|
||
Birouk N,
|
||
Dubourg O,
|
||
Tazir M,
|
||
LeGuern E</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Aug 22;67(4):602-6.
|
||
doi: 10.1212/01.wnl.0000230225.19797.93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16924012" target="_blank">16924012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1557086">X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ionasescu VV,
|
||
Trofatter J,
|
||
Haines JL,
|
||
Summers AM,
|
||
Ionasescu R,
|
||
Searby C</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1992 Mar;15(3):368-73.
|
||
doi: 10.1002/mus.880150317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1557086" target="_blank">1557086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1674639">Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ionasescu VV,
|
||
Trofatter J,
|
||
Haines JL,
|
||
Summers AM,
|
||
Ionasescu R,
|
||
Searby C</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1991 Jun;48(6):1075-83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1674639" target="_blank">1674639</a><a href="/pmc/articles/PMC1683112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20X-linked%20recessive%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/28364294">Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berciano J,
|
||
García A,
|
||
Gallardo E,
|
||
Peeters K,
|
||
Pelayo-Negro AL,
|
||
Álvarez-Paradelo S,
|
||
Gazulla J,
|
||
Martínez-Tames M,
|
||
Infante J,
|
||
Jordanova A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2017 Aug;264(8):1655-1677.
|
||
Epub 2017 Mar 31
|
||
doi: 10.1007/s00415-017-8474-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28364294" target="_blank">28364294</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20X-linked%20recessive%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
</div>
|
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<div class=" bottom">
|
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|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1844873%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1844873%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1844873%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
|
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</ul></div>
|
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</div>
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=302801" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=101076" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Charcot-Marie-Tooth%20disease%20X-linked%20recessive%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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