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<meta name="keywords" content="C0007959, atrophies, peroneal muscular, atrophy, muscular, peroneal, atrophy, peroneal muscular, charcot marie disease, charcot marie tooth disease, charcot marie tooth hereditary neuropathy, charcot marie tooth muscular atrophy, charcot marie tooth syndrome, charcot-marie disease, charcot-marie-tooth disease, charcot-marie-tooth disease/hereditary motor and sensory neuropathy, charcot-marie-tooth hereditary neuropathy, charcot-marie-tooth neuropathy, charcot-marie-tooth syndrome, cmt, cmt - charcot-marie-tooth disease, cmt/hmsn, cntnap1, dctn2, disease or syndrome, drp2, hereditary neuropathy, charcot-marie-tooth, mcm3ap, morc2, muscular atrophies, peroneal, muscular atrophy, peroneal, peroneal muscular atrophies, peroneal muscular atrophy, sgpl1, syndrome, charcot-marie-tooth, wars1, 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 encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.\n\nCharcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy.\n\nTypically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.\n\nAffected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness.\n\nThere are several types of Charcot-Marie-Tooth disease, which are differentiated by their effects on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These abnormalities reduce the strength of the nerve impulse. People with CMT2 may develop amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement.In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both myelin and axons. Type 4 (CMT4) is distinguished from the other types by its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) indicate different genetic causes.\n\nSometimes other, historical names are used to refer to particular forms of Charcot-Marie-Tooth disease. For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called type 3 (CMT3). Depending on the specific gene that is altered, this severe, early-onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=2980
|
||
ConceptID=C0007959
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Charcot-Marie-Tooth disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2980</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.">C0007959</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 hereditary neuropathy; Charcot-Marie-Tooth Neuropathy</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<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="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_376232"><div><strong>X-linked dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376232</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.">C1847879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376232">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_376232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked 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">Genes (locations):<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="CNTNAP1 - ID: 8506 - NCBI Gene" href="/gene/8506" class="medgenPMinfo">CNTNAP1</a> (17q21.2); <a target="_blank" title="DCTN2 - ID: 10540 - NCBI Gene" href="/gene/10540" class="medgenPMinfo">DCTN2</a> (12q13.3); <a target="_blank" title="DRP2 - ID: 1821 - NCBI Gene" href="/gene/1821" class="medgenPMinfo">DRP2</a> (Xq22.1); <a target="_blank" title="MCM3AP - ID: 8888 - NCBI Gene" href="/gene/8888" class="medgenPMinfo">MCM3AP</a> (21q22.3); <a target="_blank" title="MORC2 - ID: 22880 - NCBI Gene" href="/gene/22880" class="medgenPMinfo">MORC2</a> (22q12.2); <a target="_blank" title="SGPL1 - ID: 8879 - NCBI Gene" href="/gene/8879" class="medgenPMinfo">SGPL1</a> (10q22.1); <a target="_blank" title="WARS1 - ID: 7453 - NCBI Gene" href="/gene/7453" class="medgenPMinfo">WARS1</a> (14q32.2)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/121512">FGD4</a>, <a target="_blank" href="/gene/81846">SBF2</a>, <a target="_blank" href="/gene/79628">SH3TC2</a>, <a target="_blank" href="/gene/64423">INF2</a>, <a target="_blank" href="/gene/59345">GNB4</a>, <a target="_blank" href="/gene/59341">TRPV4</a>, <a target="_blank" href="/gene/57716">PRX</a>, <a target="_blank" href="/gene/56704">JPH1</a>, <a target="_blank" href="/gene/54332">GDAP1</a>, <a target="_blank" href="/gene/26353">HSPB8</a>, <a target="_blank" href="/gene/23095">KIF1B</a>, <a target="_blank" href="/gene/10397">NDRG1</a>, <a target="_blank" href="/gene/9927">MFN2</a>, <a target="_blank" href="/gene/9896">FIG4</a>, <a target="_blank" href="/gene/9516">LITAF</a>, <a target="_blank" href="/gene/9131">AIFM1</a>, <a target="_blank" href="/gene/8898">MTMR2</a>, <a target="_blank" href="/gene/8565">YARS1</a>, <a target="_blank" href="/gene/7879">RAB7A</a>, <a target="_blank" href="/gene/6305">SBF1</a>, <a target="_blank" href="/gene/5631">PRPS1</a>, <a target="_blank" href="/gene/5376">PMP22</a>, <a target="_blank" href="/gene/4747">NEFL</a>, <a target="_blank" href="/gene/4359">MPZ</a>, <a target="_blank" href="/gene/4311">MME</a>, <a target="_blank" href="/gene/4141">MARS1</a>, <a target="_blank" href="/gene/3508">IGHMBP2</a>, <a target="_blank" href="/gene/3315">HSPB1</a>, <a target="_blank" href="/gene/3300">DNAJB2</a>, <a target="_blank" href="/gene/3098">HK1</a>, <a target="_blank" href="/gene/2705">GJB1</a>, <a target="_blank" href="/gene/2617">GARS1</a>, <a target="_blank" href="/gene/1959">EGR2</a>, <a target="_blank" href="/gene/1778">DYNC1H1</a>, <a target="_blank" href="/gene/16">AARS1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
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<td><a href="https://monarchinitiative.org/disease/MONDO:0015626" target="_blank">MONDO:0015626</a></td></tr>
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<tr><td>OMIM<span class="superscript">®</span>:</td>
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<td><a href="https://omim.org/entry/118200" target="_blank">118200</a></td></tr>
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<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
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<td><a href="https://omim.org/phenotypicSeries/PS118220" target="_blank">PS118220</a></td></tr>
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<tr><td>Orphanet:</td>
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<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=166">ORPHA166</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>
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<div class="portlet_content ln">Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.<br /><br />Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy.<br /><br />Typically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.<br /><br />Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness.<br /><br />There are several types of Charcot-Marie-Tooth disease, which are differentiated by their effects on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These abnormalities reduce the strength of the nerve impulse. People with CMT2 may develop amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement.In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both myelin and axons. Type 4 (CMT4) is distinguished from the other types by its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) indicate different genetic causes.<br /><br />Sometimes other, historical names are used to refer to particular forms of Charcot-Marie-Tooth disease. For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called type 3 (CMT3). Depending on the specific gene that is altered, this severe, early-onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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="matched_ds"><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">Charcot-Marie-Tooth disease</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842237[DISCUI]&test_type=Clinical" ref="ncbi_uid=334023">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334023" target="_blank" href="/omim/603623">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334023" ref="ncbi_uid=334023">V</a></span></span><span class="TLline"><a href="/medgen/334023" ref="tree=GTR&ncbi_uid=334023&link_uid=334023" title="View MedGen record for 'Charcot-Marie-Tooth disease dominant intermediate C'">Charcot-Marie-Tooth disease dominant intermediate C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4302667[DISCUI]&test_type=Clinical" ref="ncbi_uid=928336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=928336" target="_blank" href="/omim/610982">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=928336" ref="ncbi_uid=928336">V</a></span></span><span class="TLline"><a href="/medgen/928336" ref="tree=GTR&ncbi_uid=928336&link_uid=928336" title="View MedGen record for 'Charcot-Marie-Tooth disease dominant intermediate E'">Charcot-Marie-Tooth disease dominant intermediate E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4749463[DISCUI]&test_type=Clinical" ref="ncbi_uid=1666273">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1666273" target="_blank" href="/omim/610863">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1666273" ref="ncbi_uid=1666273">V</a></span></span><span class="TLline"><a href="/medgen/1666273" ref="tree=GTR&ncbi_uid=1666273&link_uid=1666273" title="View MedGen record for 'Charcot-Marie-Tooth disease dominant intermediate F'">Charcot-Marie-Tooth disease dominant intermediate F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270914[DISCUI]&test_type=Clinical" ref="ncbi_uid=124378">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=124378">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124378" ref="ncbi_uid=124378">V</a></span></span><span class="TLline"><a href="/medgen/124378" ref="tree=GTR&ncbi_uid=124378&link_uid=124378" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2'">Charcot-Marie-Tooth disease type 2</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842984[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=334294">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334294" target="_blank" href="/omim/606598">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334294" ref="ncbi_uid=334294">V</a></span></span><span class="TLline"><a href="/medgen/334294" ref="tree=GTR&ncbi_uid=334294&link_uid=334294" title="View MedGen record for 'Autosomal dominant Charcot-Marie-Tooth disease type 2K'">Autosomal dominant Charcot-Marie-Tooth disease type 2K</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4304672[DISCUI]&test_type=Clinical" ref="ncbi_uid=930341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=930341" ref="ncbi_uid=930341">V</a></span></span><span class="TLline"><a href="/medgen/930341" ref="tree=GTR&ncbi_uid=930341&link_uid=930341" title="View MedGen record for 'Autosomal dominant Charcot-Marie-Tooth disease type 2M'">Autosomal dominant Charcot-Marie-Tooth disease type 2M</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853710[DISCUI]&test_type=Clinical" ref="ncbi_uid=342947">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342947" target="_blank" href="/omim/605427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK201366)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=342947">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342947" ref="ncbi_uid=342947">V</a></span></span><span class="TLline"><a href="/medgen/342947" ref="tree=GTR&ncbi_uid=342947&link_uid=342947" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2C'">Charcot-Marie-Tooth disease axonal type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847823[DISCUI]&test_type=Clinical" ref="ncbi_uid=335784">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335784" target="_blank" href="/omim/602195">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=335784">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335784" ref="ncbi_uid=335784">V</a></span></span><span class="TLline"><a href="/medgen/335784" ref="tree=GTR&ncbi_uid=335784&link_uid=335784" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2F'">Charcot-Marie-Tooth disease axonal type 2F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843173[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=334344">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334344" target="_blank" href="/omim/607731">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334344" ref="tree=GTR&ncbi_uid=334344&link_uid=334344" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2H'">Charcot-Marie-Tooth disease axonal type 2H</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842983[DISCUI]&test_type=Clinical" ref="ncbi_uid=375064">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375064" target="_blank" href="/omim/606598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=375064">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375064" ref="ncbi_uid=375064">V</a></span></span><span class="TLline"><a href="/medgen/375064" ref="tree=GTR&ncbi_uid=375064&link_uid=375064" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2K'">Charcot-Marie-Tooth disease axonal type 2K</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837552[DISCUI]&test_type=Clinical" ref="ncbi_uid=324826">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324826" target="_blank" href="/omim/608014">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324826" ref="ncbi_uid=324826">V</a></span></span><span class="TLline"><a href="/medgen/324826" ref="tree=GTR&ncbi_uid=324826&link_uid=324826" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2L'">Charcot-Marie-Tooth disease axonal type 2L</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750090[DISCUI]&test_type=Clinical" ref="ncbi_uid=413754">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413754" target="_blank" href="/omim/601065">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413754" ref="ncbi_uid=413754">V</a></span></span><span class="TLline"><a href="/medgen/413754" ref="tree=GTR&ncbi_uid=413754&link_uid=413754" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2N'">Charcot-Marie-Tooth disease axonal type 2N</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280220[DISCUI]&test_type=Clinical" ref="ncbi_uid=481850">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481850" target="_blank" href="/omim/600112">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK601997/" ref="ncbi_uid=481850">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481850" ref="ncbi_uid=481850">V</a></span></span><span class="TLline"><a href="/medgen/481850" ref="tree=GTR&ncbi_uid=481850&link_uid=481850" title="View MedGen record for 'Charcot-Marie-Tooth disease axonal type 2O'">Charcot-Marie-Tooth disease axonal type 2O</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833219[DISCUI]&test_type=Clinical" ref="ncbi_uid=371512">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371512" target="_blank" href="/omim/600882">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=371512">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371512" ref="ncbi_uid=371512">V</a></span></span><span class="TLline"><a href="/medgen/371512" ref="tree=GTR&ncbi_uid=371512&link_uid=371512" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2B'">Charcot-Marie-Tooth disease type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843225[DISCUI]&test_type=Clinical" ref="ncbi_uid=375127">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375127" target="_blank" href="/omim/162280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375127" ref="ncbi_uid=375127">V</a></span></span><span class="TLline"><a href="/medgen/375127" ref="tree=GTR&ncbi_uid=375127&link_uid=375127" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2E'">Charcot-Marie-Tooth disease type 2E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888087[DISCUI]&test_type=Clinical" ref="ncbi_uid=854756">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854756" target="_blank" href="/omim/159440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854756" ref="ncbi_uid=854756">V</a></span></span><span class="TLline"><a href="/medgen/854756" ref="tree=GTR&ncbi_uid=854756&link_uid=854756" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2I'">Charcot-Marie-Tooth disease type 2I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843153[DISCUI]&test_type=Clinical" ref="ncbi_uid=375107">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375107" target="_blank" href="/omim/159440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375107" ref="ncbi_uid=375107">V</a></span></span><span class="TLline"><a href="/medgen/375107" ref="tree=GTR&ncbi_uid=375107&link_uid=375107" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2J'">Charcot-Marie-Tooth disease type 2J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2079538[DISCUI]&test_type=Clinical" ref="ncbi_uid=389169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1511/" ref="ncbi_uid=389169">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=389169" ref="ncbi_uid=389169">V</a></span></span><span class="TLline"><a href="/medgen/389169" ref="tree=GTR&ncbi_uid=389169&link_uid=389169" title="View MedGen record for 'Charcot-Marie-Tooth disease, type 2A'">Charcot-Marie-Tooth disease, type 2A</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861678[DISCUI]&test_type=Clinical" ref="ncbi_uid=350076">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350076" target="_blank" href="/omim/118210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1511/" ref="ncbi_uid=350076">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350076" ref="ncbi_uid=350076">V</a></span></span><span class="TLline"><a href="/medgen/350076" ref="tree=GTR&ncbi_uid=350076&link_uid=350076" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2A1'">Charcot-Marie-Tooth disease type 2A1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721887[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648317">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648317" target="_blank" href="/omim/609260">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK1511)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1648317">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648317" ref="ncbi_uid=1648317">V</a></span></span><span class="TLline"><a href="/medgen/1648317" ref="tree=GTR&ncbi_uid=1648317&link_uid=1648317" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2A2'">Charcot-Marie-Tooth disease type 2A2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118848[DISCUI]&test_type=Clinical" ref="ncbi_uid=468444">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468444" ref="tree=GTR&ncbi_uid=468444&link_uid=468444" title="View MedGen record for 'Charcot-Marie-Tooth Neuropathy Type 2H/2K'">Charcot-Marie-Tooth Neuropathy Type 2H/2K</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118836[DISCUI]&test_type=Clinical" ref="ncbi_uid=468432">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1242/" ref="ncbi_uid=468432">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468432" ref="ncbi_uid=468432">V</a></span></span><span class="TLline"><a href="/medgen/468432" ref="tree=GTR&ncbi_uid=468432&link_uid=468432" title="View MedGen record for 'GARS-Associated Axonal Neuropathy'">GARS-Associated Axonal Neuropathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832274[DISCUI]&test_type=Clinical" ref="ncbi_uid=316946">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=316946" target="_blank" href="/omim/600287">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1242%20OR%20NBK1358)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=316946">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=316946" ref="ncbi_uid=316946">V</a></span></span><span class="TLline"><a href="/medgen/316946" ref="tree=GTR&ncbi_uid=316946&link_uid=316946" title="View MedGen record for 'Charcot-Marie-Tooth disease type 2D'">Charcot-Marie-Tooth disease type 2D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN031873[DISCUI]&test_type=Clinical" ref="ncbi_uid=1848393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1242%20OR%20NBK1307%20OR%20NBK1358)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1848393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1848393" ref="ncbi_uid=1848393">V</a></span></span><span class="TLline"><a href="/medgen/1848393" ref="tree=GTR&ncbi_uid=1848393&link_uid=1848393" title="View MedGen record for 'Neuronopathy, distal hereditary motor, type 5A'">Neuronopathy, distal hereditary motor, type 5A</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4082197[DISCUI]&test_type=Clinical" ref="ncbi_uid=905419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=905419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=905419" ref="ncbi_uid=905419">V</a></span></span><span class="TLline"><a href="/medgen/905419" ref="tree=GTR&ncbi_uid=905419&link_uid=905419" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4'">Charcot-Marie-Tooth disease type 4</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859198[DISCUI]&test_type=Clinical" ref="ncbi_uid=347821">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347821" target="_blank" href="/omim/214400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK1539)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=347821">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347821" ref="ncbi_uid=347821">V</a></span></span><span class="TLline"><a href="/medgen/347821" ref="tree=GTR&ncbi_uid=347821&link_uid=347821" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4A'">Charcot-Marie-Tooth disease type 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832399[DISCUI]&test_type=Clinical" ref="ncbi_uid=321947">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321947" target="_blank" href="/omim/601382">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321947" ref="ncbi_uid=321947">V</a></span></span><span class="TLline"><a href="/medgen/321947" ref="tree=GTR&ncbi_uid=321947&link_uid=321947" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4B1'">Charcot-Marie-Tooth disease type 4B1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858278[DISCUI]&test_type=Clinical" ref="ncbi_uid=346869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346869" target="_blank" href="/omim/604563">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346869" ref="ncbi_uid=346869">V</a></span></span><span class="TLline"><a href="/medgen/346869" ref="tree=GTR&ncbi_uid=346869&link_uid=346869" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4B2'">Charcot-Marie-Tooth disease type 4B2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866636[DISCUI]&test_type=Clinical" ref="ncbi_uid=356581">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356581" target="_blank" href="/omim/601596">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1340%20OR%20NBK1358)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=356581">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356581" ref="ncbi_uid=356581">V</a></span></span><span class="TLline"><a href="/medgen/356581" ref="tree=GTR&ncbi_uid=356581&link_uid=356581" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4C'">Charcot-Marie-Tooth disease type 4C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832334[DISCUI]&test_type=Clinical" ref="ncbi_uid=371304">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371304" target="_blank" href="/omim/601455">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371304" ref="ncbi_uid=371304">V</a></span></span><span class="TLline"><a href="/medgen/371304" ref="tree=GTR&ncbi_uid=371304&link_uid=371304" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4D'">Charcot-Marie-Tooth disease type 4D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721436[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648303">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648303" target="_blank" href="/omim/129010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648303" ref="ncbi_uid=1648303">V</a></span></span><span class="TLline"><a href="/medgen/1648303" ref="tree=GTR&ncbi_uid=1648303&link_uid=1648303" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4E'">Charcot-Marie-Tooth disease type 4E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3540453[DISCUI]&test_type=Clinical" ref="ncbi_uid=761704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761704" target="_blank" href="/omim/614895">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=761704">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761704" ref="ncbi_uid=761704">V</a></span></span><span class="TLline"><a href="/medgen/761704" ref="tree=GTR&ncbi_uid=761704&link_uid=761704" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4F'">Charcot-Marie-Tooth disease type 4F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854449[DISCUI]&test_type=Clinical" ref="ncbi_uid=343122">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343122" target="_blank" href="/omim/142600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343122" ref="ncbi_uid=343122">V</a></span></span><span class="TLline"><a href="/medgen/343122" ref="tree=GTR&ncbi_uid=343122&link_uid=343122" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4G'">Charcot-Marie-Tooth disease type 4G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836336[DISCUI]&test_type=Clinical" ref="ncbi_uid=324487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324487" target="_blank" href="/omim/609311">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=324487">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324487" ref="ncbi_uid=324487">V</a></span></span><span class="TLline"><a href="/medgen/324487" ref="tree=GTR&ncbi_uid=324487&link_uid=324487" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4H'">Charcot-Marie-Tooth disease type 4H</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970011[DISCUI]&test_type=Clinical" ref="ncbi_uid=370808">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370808" target="_blank" href="/omim/609390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=370808">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370808" ref="ncbi_uid=370808">V</a></span></span><span class="TLline"><a href="/medgen/370808" ref="tree=GTR&ncbi_uid=370808&link_uid=370808" title="View MedGen record for 'Charcot-Marie-Tooth disease type 4J'">Charcot-Marie-Tooth disease type 4J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0011195[DISCUI]&test_type=Clinical" ref="ncbi_uid=3710">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=3710" target="_blank" href="/omim/145900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3710" ref="ncbi_uid=3710">V</a></span></span><span class="TLline"><a href="/medgen/3710" ref="tree=GTR&ncbi_uid=3710&link_uid=3710" title="View MedGen record for 'Dejerine-Sottas disease'">Dejerine-Sottas disease</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751036[DISCUI]&test_type=Clinical" ref="ncbi_uid=155486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155486" target="_blank" href="/omim/118200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=155486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155486" ref="ncbi_uid=155486">V</a></span></span><span class="TLline"><a href="/medgen/155486" ref="tree=GTR&ncbi_uid=155486&link_uid=155486" title="View MedGen record for 'Charcot-Marie-Tooth disease, type I'">Charcot-Marie-Tooth disease, type I</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270912[DISCUI]&test_type=Clinical" ref="ncbi_uid=124377">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=124377" target="_blank" href="/omim/118200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=124377">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124377" ref="ncbi_uid=124377">V</a></span></span><span class="TLline"><a href="/medgen/124377" ref="tree=GTR&ncbi_uid=124377&link_uid=124377" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1B'">Charcot-Marie-Tooth disease type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270913[DISCUI]&test_type=Clinical" ref="ncbi_uid=75728">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75728" target="_blank" href="/omim/601098">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75728" ref="ncbi_uid=75728">V</a></span></span><span class="TLline"><a href="/medgen/75728" ref="tree=GTR&ncbi_uid=75728&link_uid=75728" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1C'">Charcot-Marie-Tooth disease type 1C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843247[DISCUI]&test_type=Clinical" ref="ncbi_uid=334709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334709" target="_blank" href="/omim/129010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334709" ref="ncbi_uid=334709">V</a></span></span><span class="TLline"><a href="/medgen/334709" ref="tree=GTR&ncbi_uid=334709&link_uid=334709" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1D'">Charcot-Marie-Tooth disease type 1D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3495591[DISCUI]&test_type=Clinical" ref="ncbi_uid=501212">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501212" target="_blank" href="/omim/118300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501212" ref="ncbi_uid=501212">V</a></span></span><span class="TLline"><a href="/medgen/501212" ref="tree=GTR&ncbi_uid=501212&link_uid=501212" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1E'">Charcot-Marie-Tooth disease type 1E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843164[DISCUI]&test_type=Clinical" ref="ncbi_uid=334337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334337" target="_blank" href="/omim/162280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334337" ref="ncbi_uid=334337">V</a></span></span><span class="TLline"><a href="/medgen/334337" ref="tree=GTR&ncbi_uid=334337&link_uid=334337" title="View MedGen record for 'Charcot-Marie-Tooth disease type 1F'">Charcot-Marie-Tooth disease type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270911[DISCUI]&test_type=Clinical" ref="ncbi_uid=75727">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75727" target="_blank" href="/omim/118220">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75727" ref="ncbi_uid=75727">V</a></span></span><span class="TLline"><a href="/medgen/75727" ref="tree=GTR&ncbi_uid=75727&link_uid=75727" title="View MedGen record for 'Charcot-Marie-Tooth disease, type IA'">Charcot-Marie-Tooth disease, type IA</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118851[DISCUI]&test_type=Clinical" ref="ncbi_uid=468447">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1358/" ref="ncbi_uid=468447">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468447" ref="ncbi_uid=468447">V</a></span></span><span class="TLline"><a href="/medgen/468447" ref="tree=GTR&ncbi_uid=468447&link_uid=468447" title="View MedGen record for 'Charcot-Marie-Tooth Neuropathy X'">Charcot-Marie-Tooth Neuropathy X</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0393808[DISCUI]&test_type=Clinical" ref="ncbi_uid=98290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98290" target="_blank" href="/omim/302800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1358%20OR%20NBK1374)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=98290">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98290" ref="ncbi_uid=98290">V</a></span></span><span class="TLline"><a href="/medgen/98290" ref="tree=GTR&ncbi_uid=98290&link_uid=98290" title="View MedGen record for 'Charcot-Marie-Tooth disease X-linked dominant 1'">Charcot-Marie-Tooth disease X-linked dominant 1</a></span></li><li class="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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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="matched_ds">Charcot-Marie-Tooth disease</span><ul><li><span class="TLline"><a href="/medgen/375064" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2K">Charcot-Marie-Tooth disease axonal type 2K</a></span></li><li><span class="TLline"><a href="/medgen/334023" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate C">Charcot-Marie-Tooth disease dominant intermediate C</a></span></li><li><span class="TLline"><a href="/medgen/928336" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate E">Charcot-Marie-Tooth disease dominant intermediate E</a></span></li><li><span class="TLline"><a href="/medgen/1666273" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate F">Charcot-Marie-Tooth disease dominant intermediate F</a></span></li><li><span class="TLline"><a href="/medgen/124378" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2">Charcot-Marie-Tooth disease type 2</a></span><ul><li><span class="TLline"><a href="/medgen/1798938" ref="tree=MeSH" title="MedGen record for Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation">Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1633598" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation">Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation</a></span></li><li><span class="TLline"><a href="/medgen/1800451" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation">Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation</a></span></li><li><span class="TLline"><a href="/medgen/334294" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2K">Autosomal dominant Charcot-Marie-Tooth disease type 2K</a></span></li><li><span class="TLline"><a href="/medgen/930341" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2M">Autosomal dominant Charcot-Marie-Tooth disease type 2M</a></span></li><li><span class="TLline"><a href="/medgen/1798909" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2W">Autosomal dominant Charcot-Marie-Tooth disease type 2W</a></span></li><li><span class="TLline"><a href="/medgen/342947" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2C">Charcot-Marie-Tooth disease axonal type 2C</a></span></li><li><span class="TLline"><a href="/medgen/335784" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2F">Charcot-Marie-Tooth disease axonal type 2F</a></span></li><li><span class="TLline"><a href="/medgen/334344" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2H">Charcot-Marie-Tooth disease axonal type 2H</a></span></li><li><span class="TLline"><a href="/medgen/324826" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2L">Charcot-Marie-Tooth disease axonal type 2L</a></span></li><li><span class="TLline"><a href="/medgen/413754" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2N">Charcot-Marie-Tooth disease axonal type 2N</a></span></li><li><span class="TLline"><a href="/medgen/481850" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2O">Charcot-Marie-Tooth disease axonal type 2O</a></span></li><li><span class="TLline"><a href="/medgen/482427" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2P">Charcot-Marie-Tooth disease axonal type 2P</a></span></li><li><span class="TLline"><a href="/medgen/767280" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2Q">Charcot-Marie-Tooth disease axonal type 2Q</a></span></li><li><span class="TLline"><a href="/medgen/906504" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2U">Charcot-Marie-Tooth disease axonal type 2U</a></span></li><li><span class="TLline"><a href="/medgen/1800473" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2V">Charcot-Marie-Tooth disease axonal type 2V</a></span></li><li><span class="TLline"><a href="/medgen/1800448" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2Z">Charcot-Marie-Tooth disease axonal type 2Z</a></span></li><li><span class="TLline"><a href="/medgen/350076" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2A1">Charcot-Marie-Tooth disease type 2A1</a></span></li><li><span class="TLline"><a href="/medgen/1648317" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2A2">Charcot-Marie-Tooth disease type 2A2</a></span></li><li><span class="TLline"><a href="/medgen/371512" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2B">Charcot-Marie-Tooth disease type 2B</a></span></li><li><span class="TLline"><a href="/medgen/316946" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2D">Charcot-Marie-Tooth disease type 2D</a></span></li><li><span class="TLline"><a href="/medgen/375127" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2E">Charcot-Marie-Tooth disease type 2E</a></span></li><li><span class="TLline"><a href="/medgen/854756" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2I">Charcot-Marie-Tooth disease type 2I</a></span></li><li><span class="TLline"><a href="/medgen/375107" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2J">Charcot-Marie-Tooth disease type 2J</a></span></li><li><span class="TLline"><a href="/medgen/1800449" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2Y">Charcot-Marie-Tooth disease type 2Y</a></span></li><li><span class="TLline"><a href="/medgen/1648475" ref="tree=MeSH" title="MedGen record for Charcot-marie-tooth disease, axonal, type 2DD">Charcot-marie-tooth disease, axonal, type 2DD</a></span></li><li><span class="TLline"><a href="/medgen/389169" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type 2A">Charcot-Marie-Tooth disease, type 2A</a></span><ul><li><span class="TLline"><a href="/medgen/934692" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;">Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/468444" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth Neuropathy Type 2H/2K">Charcot-Marie-Tooth Neuropathy Type 2H/2K</a></span></li><li><span class="TLline"><a href="/medgen/468432" ref="tree=MeSH" title="MedGen record for GARS-Associated Axonal Neuropathy">GARS-Associated Axonal Neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/1848393" ref="tree=MeSH" title="MedGen record for Neuronopathy, distal hereditary motor, type 5A">Neuronopathy, distal hereditary motor, type 5A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/400593" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 2">Giant axonal neuropathy 2</a></span></li><li><span class="TLline"><a href="/medgen/1798873" ref="tree=MeSH" title="MedGen record for MME-related autosomal dominant Charcot Marie Tooth disease type 2">MME-related autosomal dominant Charcot Marie Tooth disease type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/905419" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4">Charcot-Marie-Tooth disease type 4</a></span><ul><li><span class="TLline"><a href="/medgen/347821" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4A">Charcot-Marie-Tooth disease type 4A</a></span></li><li><span class="TLline"><a href="/medgen/321947" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4B1">Charcot-Marie-Tooth disease type 4B1</a></span></li><li><span class="TLline"><a href="/medgen/346869" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4B2">Charcot-Marie-Tooth disease type 4B2</a></span></li><li><span class="TLline"><a href="/medgen/811329" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4B3">Charcot-Marie-Tooth disease type 4B3</a></span></li><li><span class="TLline"><a href="/medgen/356581" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4C">Charcot-Marie-Tooth disease type 4C</a></span></li><li><span class="TLline"><a href="/medgen/371304" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4D">Charcot-Marie-Tooth disease type 4D</a></span></li><li><span class="TLline"><a href="/medgen/1648303" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4E">Charcot-Marie-Tooth disease type 4E</a></span></li><li><span class="TLline"><a href="/medgen/761704" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4F">Charcot-Marie-Tooth disease type 4F</a></span></li><li><span class="TLline"><a href="/medgen/343122" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4G">Charcot-Marie-Tooth disease type 4G</a></span></li><li><span class="TLline"><a href="/medgen/324487" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4H">Charcot-Marie-Tooth disease type 4H</a></span></li><li><span class="TLline"><a href="/medgen/370808" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4J">Charcot-Marie-Tooth disease type 4J</a></span></li><li><span class="TLline"><a href="/medgen/895560" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4K">Charcot-Marie-Tooth disease type 4K</a></span></li><li><span class="TLline"><a href="/medgen/3710" ref="tree=MeSH" title="MedGen record for Dejerine-Sottas disease">Dejerine-Sottas disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124377" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1B">Charcot-Marie-Tooth disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/98290" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked dominant 1">Charcot-Marie-Tooth disease X-linked dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/155486" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type I">Charcot-Marie-Tooth disease, type I</a></span><ul><li><span class="TLline"><a href="/medgen/75728" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1C">Charcot-Marie-Tooth disease type 1C</a></span></li><li><span class="TLline"><a href="/medgen/334709" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1D">Charcot-Marie-Tooth disease type 1D</a></span></li><li><span class="TLline"><a href="/medgen/501212" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1E">Charcot-Marie-Tooth disease type 1E</a></span></li><li><span class="TLline"><a href="/medgen/334337" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1F">Charcot-Marie-Tooth disease type 1F</a></span></li><li><span class="TLline"><a href="/medgen/75727" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type IA">Charcot-Marie-Tooth disease, type IA</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/468447" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth Neuropathy X">Charcot-Marie-Tooth Neuropathy X</a></span><ul><li><span class="TLline"><a href="/medgen/336803" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 2">Charcot-Marie-Tooth disease X-linked recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/375530" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 3">Charcot-Marie-Tooth disease X-linked recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/162891" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 4">Charcot-Marie-Tooth disease X-linked recessive 4</a></span></li><li><span class="TLline"><a href="/medgen/374254" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 5">Charcot-Marie-Tooth disease X-linked recessive 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/356618" ref="tree=MeSH" title="MedGen record for Neuronopathy, distal hereditary motor, autosomal dominant 1">Neuronopathy, distal hereditary motor, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/349240" ref="tree=MeSH" title="MedGen record for Polyneuropathy-hand defect syndrome">Polyneuropathy-hand defect syndrome</a></span></li></ul></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=637&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Charcot-Marie-Tooth disease</span> in Orphanet.</div></div></div>
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<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/37510296">The Current State of Charcot-Marie-Tooth Disease Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okamoto Y,
|
||
Takashima H</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jul 1;14(7)
|
||
doi: 10.3390/genes14071391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37510296" target="_blank">37510296</a><a href="/pmc/articles/PMC10379063" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35140138">Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yiu EM,
|
||
Bray P,
|
||
Baets J,
|
||
Baker SK,
|
||
Barisic N,
|
||
de Valle K,
|
||
Estilow T,
|
||
Farrar MA,
|
||
Finkel RS,
|
||
Haberlová J,
|
||
Kennedy RA,
|
||
Moroni I,
|
||
Nicholson GA,
|
||
Ramchandren S,
|
||
Reilly MM,
|
||
Rose K,
|
||
Shy ME,
|
||
Siskind CE,
|
||
Yum SW,
|
||
Menezes MP,
|
||
Ryan MM,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2022 May;93(5):530-538.
|
||
Epub 2022 Feb 9
|
||
doi: 10.1136/jnnp-2021-328483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35140138" target="_blank">35140138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196274">Neuromuscular diseases: Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mary P,
|
||
Servais L,
|
||
Vialle R</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S89-S95.
|
||
Epub 2017 Nov 28
|
||
doi: 10.1016/j.otsr.2017.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196274" target="_blank">29196274</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22charcot-marie-tooth%20disease%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 (85)</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/36588067">Treatment of Charcot-Marie-Tooth neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beloribi-Djefaflia S,
|
||
Attarian S</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2023 Jan-Feb;179(1-2):35-48.
|
||
Epub 2022 Dec 30
|
||
doi: 10.1016/j.neurol.2022.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36588067" target="_blank">36588067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34606075">Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCray BA,
|
||
Scherer SS</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2021 Oct;18(4):2269-2285.
|
||
Epub 2021 Oct 4
|
||
doi: 10.1007/s13311-021-01099-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34606075" target="_blank">34606075</a><a href="/pmc/articles/PMC8804038" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32376792">Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Volodarsky M,
|
||
Kerkhof J,
|
||
Stuart A,
|
||
Levy M,
|
||
Brady LI,
|
||
Tarnopolsky M,
|
||
Lin H,
|
||
Ainsworth P,
|
||
Sadikovic B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2021 Apr;58(4):284-288.
|
||
Epub 2020 May 6
|
||
doi: 10.1136/jmedgenet-2019-106641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32376792" target="_blank">32376792</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26849231">Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barreto LC,
|
||
Oliveira FS,
|
||
Nunes PS,
|
||
de França Costa IM,
|
||
Garcez CA,
|
||
Goes GM,
|
||
Neves EL,
|
||
de Souza Siqueira Quintans J,
|
||
de Souza Araújo AA</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2016;46(3):157-65.
|
||
Epub 2016 Feb 6
|
||
doi: 10.1159/000443706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26849231" target="_blank">26849231</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26010435">Systematic review of exercise for Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sman AD,
|
||
Hackett D,
|
||
Fiatarone Singh M,
|
||
Fornusek C,
|
||
Menezes MP,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2015 Dec;20(4):347-62.
|
||
doi: 10.1111/jns.12116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26010435" target="_blank">26010435</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%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 (1098)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36588067">Treatment of Charcot-Marie-Tooth neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beloribi-Djefaflia S,
|
||
Attarian S</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2023 Jan-Feb;179(1-2):35-48.
|
||
Epub 2022 Dec 30
|
||
doi: 10.1016/j.neurol.2022.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36588067" target="_blank">36588067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35596796">Neurological update: hereditary neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kramarz C,
|
||
Rossor AM</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 Sep;269(9):5187-5191.
|
||
Epub 2022 May 21
|
||
doi: 10.1007/s00415-022-11164-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35596796" target="_blank">35596796</a><a href="/pmc/articles/PMC9363318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336816">Charcot-Marie-Tooth: From Molecules to Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morena J,
|
||
Gupta A,
|
||
Hoyle JC</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Jul 12;20(14)
|
||
doi: 10.3390/ijms20143419.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336816" target="_blank">31336816</a><a href="/pmc/articles/PMC6679156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21504497">Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reilly MM,
|
||
Murphy SM,
|
||
Laurá M</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2011 Mar;16(1):1-14.
|
||
doi: 10.1111/j.1529-8027.2011.00324.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21504497" target="_blank">21504497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19539237">Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pareyson D,
|
||
Marchesi C</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2009 Jul;8(7):654-67.
|
||
doi: 10.1016/S1474-4422(09)70110-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19539237" target="_blank">19539237</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%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 (1437)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32914902">Chronic inflammatory demyelinating polyradiculoneuropathy-Diagnostic pitfalls and treatment approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stino AM,
|
||
Naddaf E,
|
||
Dyck PJ,
|
||
Dyck PJB</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Feb;63(2):157-169.
|
||
Epub 2020 Sep 11
|
||
doi: 10.1002/mus.27046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914902" target="_blank">32914902</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336816">Charcot-Marie-Tooth: From Molecules to Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morena J,
|
||
Gupta A,
|
||
Hoyle JC</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Jul 12;20(14)
|
||
doi: 10.3390/ijms20143419.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336816" target="_blank">31336816</a><a href="/pmc/articles/PMC6679156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29746360">Laxative-Induced Contact Dermatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melvin JE,
|
||
Hickey RW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Emerg Care</span>
|
||
2019 Jul;35(7):e127.
|
||
doi: 10.1097/PEC.0000000000001498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29746360" target="_blank">29746360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27124017">Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corrado B,
|
||
Ciardi G,
|
||
Bargigli C</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2016 Apr;95(17):e3278.
|
||
doi: 10.1097/MD.0000000000003278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27124017" target="_blank">27124017</a><a href="/pmc/articles/PMC4998680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19539237">Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pareyson D,
|
||
Marchesi C</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2009 Jul;8(7):654-67.
|
||
doi: 10.1016/S1474-4422(09)70110-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19539237" target="_blank">19539237</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%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 (316)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33415332">Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pipis M,
|
||
Feely SME,
|
||
Polke JM,
|
||
Skorupinska M,
|
||
Perez L,
|
||
Shy RR,
|
||
Laura M,
|
||
Morrow JM,
|
||
Moroni I,
|
||
Pisciotta C,
|
||
Taroni F,
|
||
Vujovic D,
|
||
Lloyd TE,
|
||
Acsadi G,
|
||
Yum SW,
|
||
Lewis RA,
|
||
Finkel RS,
|
||
Herrmann DN,
|
||
Day JW,
|
||
Li J,
|
||
Saporta M,
|
||
Sadjadi R,
|
||
Walk D,
|
||
Burns J,
|
||
Muntoni F,
|
||
Ramchandren S,
|
||
Horvath R,
|
||
Johnson NE,
|
||
Züchner S,
|
||
Pareyson D,
|
||
Scherer SS,
|
||
Rossor AM,
|
||
Shy ME,
|
||
Reilly MM;
|
||
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Dec 1;143(12):3589-3602.
|
||
doi: 10.1093/brain/awaa323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33415332" target="_blank">33415332</a><a href="/pmc/articles/PMC7805791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33003000">Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein CJ</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2020 Oct;26(5):1224-1256.
|
||
doi: 10.1212/CON.0000000000000927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33003000" target="_blank">33003000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196274">Neuromuscular diseases: Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mary P,
|
||
Servais L,
|
||
Vialle R</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S89-S95.
|
||
Epub 2017 Nov 28
|
||
doi: 10.1016/j.otsr.2017.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196274" target="_blank">29196274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19539237">Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pareyson D,
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<span class="medgenPMjournal">Lancet Neurol</span>
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2009 Jul;8(7):654-67.
|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/19539237" target="_blank">19539237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19825739">Charcot-Marie-tooth disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Casasnovas C,
|
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Cano LM,
|
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2008 Dec;1(6):350-4.
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||
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||
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|
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<span class="bold">PMID: </span><a href="/pubmed/19825739" target="_blank">19825739</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%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 (458)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39133880">Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadjadi R,
|
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Picher-Martel V,
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Morrow JM,
|
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Thedens D,
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DiCamillo PA,
|
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McCray BA,
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Pareyson D,
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Herrmann DN,
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Reilly MM,
|
||
Li J,
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||
Castro D,
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||
Shy ME;
|
||
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||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Sep 10;103(5):e209763.
|
||
Epub 2024 Aug 12
|
||
doi: 10.1212/WNL.0000000000209763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39133880" target="_blank">39133880</a><a href="/pmc/articles/PMC11760056" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38702287">Distal hereditary motor neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tazir M,
|
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Nouioua S</span><br />
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<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2024 Dec;180(10):1031-1036.
|
||
Epub 2024 May 3
|
||
doi: 10.1016/j.neurol.2023.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38702287" target="_blank">38702287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32265048">Cochlear implantation in patient with Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi M,
|
||
Yoshida T,
|
||
Sugimoto S,
|
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Teranishi M,
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||
Hara D,
|
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Kimata Y,
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||
Sone M</span><br />
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<span class="medgenPMjournal">Auris Nasus Larynx</span>
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||
2021 Apr;48(2):327-330.
|
||
Epub 2020 Apr 5
|
||
doi: 10.1016/j.anl.2020.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32265048" target="_blank">32265048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33415332">Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pipis M,
|
||
Feely SME,
|
||
Polke JM,
|
||
Skorupinska M,
|
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Perez L,
|
||
Shy RR,
|
||
Laura M,
|
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Morrow JM,
|
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Moroni I,
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Pisciotta C,
|
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Taroni F,
|
||
Vujovic D,
|
||
Lloyd TE,
|
||
Acsadi G,
|
||
Yum SW,
|
||
Lewis RA,
|
||
Finkel RS,
|
||
Herrmann DN,
|
||
Day JW,
|
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Li J,
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Saporta M,
|
||
Sadjadi R,
|
||
Walk D,
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Burns J,
|
||
Muntoni F,
|
||
Ramchandren S,
|
||
Horvath R,
|
||
Johnson NE,
|
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Züchner S,
|
||
Pareyson D,
|
||
Scherer SS,
|
||
Rossor AM,
|
||
Shy ME,
|
||
Reilly MM;
|
||
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)</span><br />
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||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Dec 1;143(12):3589-3602.
|
||
doi: 10.1093/brain/awaa323.
|
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<span class="bold">PMID: </span><a href="/pubmed/33415332" target="_blank">33415332</a><a href="/pmc/articles/PMC7805791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33003000">Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein CJ</span><br />
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<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
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2020 Oct;26(5):1224-1256.
|
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doi: 10.1212/CON.0000000000000927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33003000" target="_blank">33003000</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%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 (974)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37060329">Effectiveness of exercise therapy for individuals diagnosed with Charcot-Marie-Tooth disease: A systematic review of randomized clinical trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conde RM,
|
||
Senem I,
|
||
Dos Santos M,
|
||
de Lima Osório F,
|
||
Marques Júnior W</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2023 Jun;28(2):169-178.
|
||
Epub 2023 Apr 24
|
||
doi: 10.1111/jns.12548.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37060329" target="_blank">37060329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28364294">Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berciano J,
|
||
García A,
|
||
Gallardo E,
|
||
Peeters K,
|
||
Pelayo-Negro AL,
|
||
Álvarez-Paradelo S,
|
||
Gazulla J,
|
||
Martínez-Tames M,
|
||
Infante J,
|
||
Jordanova A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2017 Aug;264(8):1655-1677.
|
||
Epub 2017 Mar 31
|
||
doi: 10.1007/s00415-017-8474-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28364294" target="_blank">28364294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27124017">Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corrado B,
|
||
Ciardi G,
|
||
Bargigli C</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2016 Apr;95(17):e3278.
|
||
doi: 10.1097/MD.0000000000003278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27124017" target="_blank">27124017</a><a href="/pmc/articles/PMC4998680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26849231">Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barreto LC,
|
||
Oliveira FS,
|
||
Nunes PS,
|
||
de França Costa IM,
|
||
Garcez CA,
|
||
Goes GM,
|
||
Neves EL,
|
||
de Souza Siqueira Quintans J,
|
||
de Souza Araújo AA</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2016;46(3):157-65.
|
||
Epub 2016 Feb 6
|
||
doi: 10.1159/000443706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26849231" target="_blank">26849231</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26010435">Systematic review of exercise for Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sman AD,
|
||
Hackett D,
|
||
Fiatarone Singh M,
|
||
Fornusek C,
|
||
Menezes MP,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2015 Dec;20(4):347-62.
|
||
doi: 10.1111/jns.12116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26010435" target="_blank">26010435</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (41)</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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|
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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=C0007959%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C0007959%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0007959%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0007959%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0007959%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C0007959%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0007959%5bDISCUI%5d" target="_blank">See all (39)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS118220" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=166" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Charcot-Marie-Tooth%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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%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%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></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></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=191050%20300052%20602346%20603294%20603729%20607376%20616661" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1821[geneid]" target="_blank">View DRP2 variations in ClinVar</a></li><li><a href="/clinvar/?term=7453[geneid]" target="_blank">View WARS1 variations in ClinVar</a></li><li><a href="/clinvar/?term=8506[geneid]" target="_blank">View CNTNAP1 variations in ClinVar</a></li><li><a href="/clinvar/?term=8879[geneid]" target="_blank">View SGPL1 variations in ClinVar</a></li><li><a href="/clinvar/?term=8888[geneid]" target="_blank">View MCM3AP variations in ClinVar</a></li><li><a href="/clinvar/?term=10540[geneid]" target="_blank">View DCTN2 variations in ClinVar</a></li><li><a href="/clinvar/?term=22880[geneid]" target="_blank">View MORC2 variations in ClinVar</a></li><li><a href="/nuccore/284055256" target="_blank">RefSeqGene</a></li></ul></div>
|
||
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|
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|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Charcot-Marie-Tooth+Disease/1276" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Charcot-Marie-Tooth%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6034/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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|
||
<div class="portlet brieflink">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
|
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<ul>
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<li>
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|
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|
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<a href="/pubmed/clinical?term=Charcot-Marie-Tooth%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
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|
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<li>
|
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<a href="/pubmed?term=Charcot-Marie-Tooth%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
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<h3>Related information</h3>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d40cd967c23b31e0dac432">Inability to walk by childhood/adolescence</a>
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<div class="tertiary">MedGen</div>
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