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<meta name="keywords" content="C0270912, autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1b, charcot marie tooth disease type 1b, charcot marie tooth disease, type 1b, charcot marie tooth disease, type ib, charcot marie tooth neuropathy, type 1b, charcot-marie-tooth disease slow nerve conduction type linked to duffy, charcot-marie-tooth disease type 1 caused by mutation in mpz, charcot-marie-tooth disease type 1b, charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b, charcot-marie-tooth disease, demyelinating, type 1b, charcot-marie-tooth disease, slow nerve conduction type, linked to duffy, charcot-marie-tooth disease, type 1b, charcot-marie-tooth disease, type ib, charcot-marie-tooth neuropathy type 1b, charcot-marie-tooth neuropathy, type 1b, cmt 1b, cmt1b, disease or syndrome, hereditary motor and sensory neuropathy 1, hereditary motor and sensory neuropathy 1b, hereditary motor and sensory neuropathy i, hereditary motor and sensory neuropathy ib, hmsn 1b, hmsn ib, hmsn1, hmsn1b, mpz, mpz charcot-marie-tooth disease type 1, peroneal muscular atrophy, 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="Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. Classification On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (118220) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal). For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (302800), CMT2A1 (118210), CMT3 (DSS; 145900), CMT4A (214400), and CMTDIB (606482). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1 Autosomal dominant demyelinating CMT1 is a genetically heterogeneous disorder and can be caused by mutations in different genes; see CMT1A (118220), CMT1C (601098), CMT1D (607678), CMT1E (607734), CMT1F (607734), CMT1G (618279), CMT1H (619764), CMT1I (619742), and CMT1J (620111). See also 608236 for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=124377
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ConceptID=C0270912
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Charcot-Marie-Tooth disease type 1B<span class="h1sub">(HMSN IB; CMT1B)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124377</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.">C0270912</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 DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; Charcot-Marie-Tooth disease, demyelinating, type 1b; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; Charcot-Marie-Tooth disease, type IB; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; Hereditary motor and sensory neuropathy 1B; HEREDITARY MOTOR AND SENSORY NEUROPATHY I; HEREDITARY MOTOR AND SENSORY NEUROPATHY IB; PERONEAL MUSCULAR ATROPHY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Charcot-Marie-Tooth disease, type IB (42986003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MPZ - ID: 4359 - NCBI Gene" href="/gene/4359" class="medgenPMinfo">MPZ</a> (1q23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007307" target="_blank">MONDO:0007307</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/118200" target="_blank">118200</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=101082">ORPHA101082</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>
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<div class="portlet mgSection" id="ID_100">
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||
<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">Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. Classification On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (118220) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal). For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (302800), CMT2A1 (118210), CMT3 (DSS; 145900), CMT4A (214400), and CMTDIB (606482). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1 Autosomal dominant demyelinating CMT1 is a genetically heterogeneous disorder and can be caused by mutations in different genes; see CMT1A (118220), CMT1C (601098), CMT1D (607678), CMT1E (607734), CMT1F (607734), CMT1G (618279), CMT1H (619764), CMT1I (619742), and CMT1J (620111). See also 608236 for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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_107956"><div><strong>Limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107956</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.">C0587246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength and weakness of the muscles of the arms and legs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107956">Feature record</a> | <a href="/medgen?term=%22Limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20107956%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_209712"><div><strong>Hammertoe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209712</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.">C1136179</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209712">Feature record</a> | <a href="/medgen?term=%22Hammertoe%22%5BClinical%20Features%5D%20OR%20209712%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_397570"><div><strong>Split hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397570</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.">C2699510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/397570">Feature record</a> | <a href="/medgen?term=%22Split%20hand%22%5BClinical%20Features%5D%20OR%20397570%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871311"><div><strong>Ulnar claw</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871311</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.">C4025799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871311">Feature record</a> | <a href="/medgen?term=%22Ulnar%20claw%22%5BClinical%20Features%5D%20OR%20871311%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_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_451074"><div><strong>Peripheral demyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451074</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.">C0878575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/451074">Feature record</a> | <a href="/medgen?term=%22Peripheral%20demyelination%22%5BClinical%20Features%5D%20OR%20451074%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322038"><div><strong>Hypertrophic nerve changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322038</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.">C1832776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322038">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20nerve%20changes%22%5BClinical%20Features%5D%20OR%20322038%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334341"><div><strong>Myelin outfoldings</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334341</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.">C1843168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excessive redundant myelin in the peripheral nerve sheath.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334341">Feature record</a> | <a href="/medgen?term=%22Myelin%20outfoldings%22%5BClinical%20Features%5D%20OR%20334341%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_376237"><div><strong>Onion bulb formation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376237</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.">C1847906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376237">Feature record</a> | <a href="/medgen?term=%22Onion%20bulb%20formation%22%5BClinical%20Features%5D%20OR%20376237%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346872"><div><strong>Decreased number of peripheral myelinated nerve fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346872</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.">C1858285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346872">Feature record</a> | <a href="/medgen?term=%22Decreased%20number%20of%20peripheral%20myelinated%20nerve%20fibers%22%5BClinical%20Features%5D%20OR%20346872%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_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_154361"><div><strong>Kyphoscoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154361</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.">C0575158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154361">Feature record</a> | <a href="/medgen?term=%22Kyphoscoliosis%22%5BClinical%20Features%5D%20OR%20154361%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_396193"><div><strong>Cold-induced muscle cramps</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396193</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.">C1861675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396193">Feature record</a> | <a href="/medgen?term=%22Cold-induced%20muscle%20cramps%22%5BClinical%20Features%5D%20OR%20396193%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52779"><div><strong>Tonic pupil</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52779</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.">C0040416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52779">Feature record</a> | <a href="/medgen?term=%22Tonic%20pupil%22%5BClinical%20Features%5D%20OR%2052779%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_209712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hammertoe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb muscle 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_397570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar claw</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic pupil</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_396193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cold-induced muscle cramps</a></span></li><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_154361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphoscoliosis</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_346872" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased number of peripheral myelinated nerve fibers</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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic nerve changes</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelin outfoldings</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Onion bulb formation</a></span></li><li class="TLline">
|
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_451074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral demyelination</a></span></li><li class="TLline">
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<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">
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<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>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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="matched_ds"><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">Charcot-Marie-Tooth disease type 1B</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="TLclosed"><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"><a href="/medgen/336803" ref="tree=GTR&ncbi_uid=336803&link_uid=336803" title="View MedGen record for 'Charcot-Marie-Tooth disease X-linked recessive 2'">Charcot-Marie-Tooth disease X-linked recessive 2</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=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/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/45066" ref="tree=MeSH" title="MedGen record for Hereditary motor and sensory neuropathy">Hereditary motor and sensory neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/2980" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease">Charcot-Marie-Tooth disease</a></span><ul><li><span class="matched_ds">Charcot-Marie-Tooth disease type 1B</span></li></ul></li></ul></li></ul></li></ul></li></ul></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=14793&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Charcot-Marie-Tooth disease type 1B</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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/36692866">Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lei L,
|
||
Xiaobo L,
|
||
Zhiqiang L,
|
||
Yongzhi X,
|
||
Shunxiang H,
|
||
Huadong Z,
|
||
Beisha T,
|
||
Ruxu Z</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Apr;30(4):1069-1079.
|
||
Epub 2023 Feb 5
|
||
doi: 10.1111/ene.15700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36692866" target="_blank">36692866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26310628">Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanmaneechai O,
|
||
Feely S,
|
||
Scherer SS,
|
||
Herrmann DN,
|
||
Burns J,
|
||
Muntoni F,
|
||
Li J,
|
||
Siskind CE,
|
||
Day JW,
|
||
Laura M,
|
||
Sumner CJ,
|
||
Lloyd TE,
|
||
Ramchandren S,
|
||
Shy RR,
|
||
Grider T,
|
||
Bacon C,
|
||
Finkel RS,
|
||
Yum SW,
|
||
Moroni I,
|
||
Piscosquito G,
|
||
Pareyson D,
|
||
Reilly MM,
|
||
Shy ME;
|
||
Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC)</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2015 Nov;138(Pt 11):3180-92.
|
||
Epub 2015 Aug 25
|
||
doi: 10.1093/brain/awv241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26310628" target="_blank">26310628</a><a href="/pmc/articles/PMC4643641" 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%20type%201b%22%5Btiab%3A~0%5D)%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><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20512157">Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aretz S,
|
||
Rautenstrauss B,
|
||
Timmerman V</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2010 Sep;18(9)
|
||
Epub 2010 May 26
|
||
doi: 10.1038/ejhg.2010.75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20512157" target="_blank">20512157</a><a href="/pmc/articles/PMC2987431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/36692866">Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lei L,
|
||
Xiaobo L,
|
||
Zhiqiang L,
|
||
Yongzhi X,
|
||
Shunxiang H,
|
||
Huadong Z,
|
||
Beisha T,
|
||
Ruxu Z</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Apr;30(4):1069-1079.
|
||
Epub 2023 Feb 5
|
||
doi: 10.1111/ene.15700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36692866" target="_blank">36692866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26310628">Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanmaneechai O,
|
||
Feely S,
|
||
Scherer SS,
|
||
Herrmann DN,
|
||
Burns J,
|
||
Muntoni F,
|
||
Li J,
|
||
Siskind CE,
|
||
Day JW,
|
||
Laura M,
|
||
Sumner CJ,
|
||
Lloyd TE,
|
||
Ramchandren S,
|
||
Shy RR,
|
||
Grider T,
|
||
Bacon C,
|
||
Finkel RS,
|
||
Yum SW,
|
||
Moroni I,
|
||
Piscosquito G,
|
||
Pareyson D,
|
||
Reilly MM,
|
||
Shy ME;
|
||
Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC)</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2015 Nov;138(Pt 11):3180-92.
|
||
Epub 2015 Aug 25
|
||
doi: 10.1093/brain/awv241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26310628" target="_blank">26310628</a><a href="/pmc/articles/PMC4643641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23811036">Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Speevak MD,
|
||
Farrell SA</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2013 Oct;56(10):566-9.
|
||
Epub 2013 Jun 25
|
||
doi: 10.1016/j.ejmg.2013.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23811036" target="_blank">23811036</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22632984">Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang LW,
|
||
Lin KP,
|
||
Chang MH,
|
||
Liao YC,
|
||
Liao KK,
|
||
Soong BW,
|
||
Lee YC</span><br />
|
||
<span class="medgenPMjournal">J Chin Med Assoc</span>
|
||
2012 May;75(5):197-202.
|
||
Epub 2012 Apr 29
|
||
doi: 10.1016/j.jcma.2012.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22632984" target="_blank">22632984</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8664899">Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roa BB,
|
||
Warner LE,
|
||
Garcia CA,
|
||
Russo D,
|
||
Lovelace R,
|
||
Chance PF,
|
||
Lupski JR</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
1996;7(1):36-45.
|
||
doi: 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8664899" target="_blank">8664899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20type%201B%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28032003">A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortese R,
|
||
Zoccolella S,
|
||
Muglia M,
|
||
Patitucci A,
|
||
Scarafino A,
|
||
Paolicelli D,
|
||
Simone IL</span><br />
|
||
<span class="medgenPMjournal">Brain Behav</span>
|
||
2016 Dec;6(12):e00580.
|
||
Epub 2016 Sep 25
|
||
doi: 10.1002/brb3.580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28032003" target="_blank">28032003</a><a href="/pmc/articles/PMC5167010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22632984">Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang LW,
|
||
Lin KP,
|
||
Chang MH,
|
||
Liao YC,
|
||
Liao KK,
|
||
Soong BW,
|
||
Lee YC</span><br />
|
||
<span class="medgenPMjournal">J Chin Med Assoc</span>
|
||
2012 May;75(5):197-202.
|
||
Epub 2012 Apr 29
|
||
doi: 10.1016/j.jcma.2012.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22632984" target="_blank">22632984</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19918771">A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lancaster E,
|
||
Elman LB,
|
||
Scherer SS</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2010 Apr;41(4):555-8.
|
||
doi: 10.1002/mus.21546.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19918771" target="_blank">19918771</a><a href="/pmc/articles/PMC2847649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19533637">Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cartwright MS,
|
||
Brown ME,
|
||
Eulitt P,
|
||
Walker FO,
|
||
Lawson VH,
|
||
Caress JB</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2009 Jul;40(1):98-102.
|
||
doi: 10.1002/mus.21292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19533637" target="_blank">19533637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7515304">Genetic basis of inherited peripheral neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suter U,
|
||
Patel PI</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
1994;3(2):95-102.
|
||
doi: 10.1002/humu.1380030203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7515304" target="_blank">7515304</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20type%201B%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 (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23250879">Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patzkó A,
|
||
Bai Y,
|
||
Saporta MA,
|
||
Katona I,
|
||
Wu X,
|
||
Vizzuso D,
|
||
Feltri ML,
|
||
Wang S,
|
||
Dillon LM,
|
||
Kamholz J,
|
||
Kirschner D,
|
||
Sarkar FH,
|
||
Wrabetz L,
|
||
Shy ME</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 Dec;135(Pt 12):3551-66.
|
||
doi: 10.1093/brain/aws299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23250879" target="_blank">23250879</a><a href="/pmc/articles/PMC3577101" 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%20type%201B%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/27344971">A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corrado L,
|
||
Magri S,
|
||
Bagarotti A,
|
||
Carecchio M,
|
||
Piscosquito G,
|
||
Pareyson D,
|
||
Varrasi C,
|
||
Vecchio D,
|
||
Zonta A,
|
||
Cantello R,
|
||
Taroni F,
|
||
D'Alfonso S</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2016 Aug;26(8):516-20.
|
||
Epub 2016 May 24
|
||
doi: 10.1016/j.nmd.2016.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27344971" target="_blank">27344971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19475438">U1 snRNA mis-binding: a new cause of CMT1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crehalet H,
|
||
Latour P,
|
||
Bonnet V,
|
||
Attarian S,
|
||
Labauge P,
|
||
Bonello N,
|
||
Bernard R,
|
||
Millat G,
|
||
Rousson R,
|
||
Bozon D</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2010 Feb;11(1):13-9.
|
||
Epub 2009 May 28
|
||
doi: 10.1007/s10048-009-0199-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19475438" target="_blank">19475438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18663734">A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magot A,
|
||
Latour P,
|
||
Mussini JM,
|
||
Mourtada R,
|
||
Guiheneuc P,
|
||
Pereon Y</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2008 Aug;38(2):1055-9.
|
||
doi: 10.1002/mus.21050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18663734" target="_blank">18663734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15170620">Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggers SD,
|
||
Keswani SC,
|
||
Melli G,
|
||
Cornblath DR</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2004 Jun;29(6):867-9.
|
||
doi: 10.1002/mus.20034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15170620" target="_blank">15170620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8664899">Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roa BB,
|
||
Warner LE,
|
||
Garcia CA,
|
||
Russo D,
|
||
Lovelace R,
|
||
Chance PF,
|
||
Lupski JR</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
1996;7(1):36-45.
|
||
doi: 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8664899" target="_blank">8664899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20type%201B%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36692866">Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lei L,
|
||
Xiaobo L,
|
||
Zhiqiang L,
|
||
Yongzhi X,
|
||
Shunxiang H,
|
||
Huadong Z,
|
||
Beisha T,
|
||
Ruxu Z</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Apr;30(4):1069-1079.
|
||
Epub 2023 Feb 5
|
||
doi: 10.1111/ene.15700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36692866" target="_blank">36692866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21503568">MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi BO,
|
||
Kim SB,
|
||
Kanwal S,
|
||
Hyun YS,
|
||
Park SW,
|
||
Koo H,
|
||
Yoo JH,
|
||
Hyun JW,
|
||
Park KD,
|
||
Choi KG,
|
||
Chung KW</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Med</span>
|
||
2011 Sep;28(3):389-96.
|
||
Epub 2011 Apr 18
|
||
doi: 10.3892/ijmm.2011.678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21503568" target="_blank">21503568</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18422810">Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzeo A,
|
||
Muglia M,
|
||
Rodolico C,
|
||
Toscano A,
|
||
Patitucci A,
|
||
Quattrone A,
|
||
Messina C,
|
||
Vita G</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2008 Nov;118(5):328-32.
|
||
Epub 2008 Apr 12
|
||
doi: 10.1111/j.1600-0404.2008.01021.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18422810" target="_blank">18422810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15170620">Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggers SD,
|
||
Keswani SC,
|
||
Melli G,
|
||
Cornblath DR</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2004 Jun;29(6):867-9.
|
||
doi: 10.1002/mus.20034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15170620" target="_blank">15170620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8664899">Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roa BB,
|
||
Warner LE,
|
||
Garcia CA,
|
||
Russo D,
|
||
Lovelace R,
|
||
Chance PF,
|
||
Lupski JR</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
1996;7(1):36-45.
|
||
doi: 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8664899" target="_blank">8664899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%20type%201B%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 (10)</a></div></div>
|
||
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|
||
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0270912%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270912%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270912%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (48)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270912%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0270912%5bDISCUI%5d" target="_blank">See all (58)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22charcot-marie-tooth%20disease%20type%201b%22%5Btiab%3A~0%5D)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Charcot-Marie-Tooth%20disease%20type%201B%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC2987431/">EuroGenetest, 2010</a><div>Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=159440" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4359[geneid]" target="_blank">View MPZ variations in ClinVar</a></li><li><a href="/nuccore/190570180" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=118200" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Charcot-Marie-Tooth+Disease+Type+1B/1285" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_1b" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Charcot-Marie-Tooth%20disease%20type%201B" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1246/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d40d93cde49f3df7fed56d">Charcot-Marie-Tooth disease type 1B</a>
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