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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Charcot-Marie-Tooth Hereditary Neuropathy Overview" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2025/01/23" /><meta name="citation_author" content="Thomas D Bird" /><meta name="citation_pmid" content="20301532" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK1358/" /><meta name="citation_keywords" content="Distal Hereditary Motor Neuropathy (dHMN)" /><meta name="citation_keywords" content="Hereditary Motor/Sensory Neuropathy (HMSN)" /><meta name="citation_keywords" content="CMT" /><meta name="citation_keywords" content="Distal Hereditary Motor Neuropathy (dHMN)" /><meta name="citation_keywords" content="Hereditary Motor/Sensory Neuropathy (HMSN)" /><meta name="citation_keywords" content="Charcot-Marie-Tooth 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/><meta name="citation_keywords" content="Myelin protein P0" /><meta name="citation_keywords" content="Myotubularin-related protein 13" /><meta name="citation_keywords" content="Neurofilament light polypeptide" /><meta name="citation_keywords" content="Periaxin" /><meta name="citation_keywords" content="Peripheral myelin protein 22" /><meta name="citation_keywords" content="Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2" /><meta name="citation_keywords" content="Polyphosphoinositide phosphatase" /><meta name="citation_keywords" content="Prelamin-A/C" /><meta name="citation_keywords" content="Protein NDRG1" /><meta name="citation_keywords" content="Ras-related protein Rab-7a" /><meta name="citation_keywords" content="Ribose-phosphate pyrophosphokinase 1" /><meta name="citation_keywords" content="SH3 domain and tetratricopeptide repeat-containing protein 2" /><meta name="citation_keywords" content="Transient receptor potential cation channel subfamily V member 4" /><meta name="citation_keywords" content="Tyrosine--tRNA ligase, cytoplasmic" /><meta name="citation_keywords" content="AARS1" /><meta name="citation_keywords" content="AIFM1" /><meta name="citation_keywords" content="DNAJB2" /><meta name="citation_keywords" content="DNM2" /><meta name="citation_keywords" content="DYNC1H1" /><meta name="citation_keywords" content="EGR2" /><meta name="citation_keywords" content="FGD4" /><meta name="citation_keywords" content="FIG4" /><meta name="citation_keywords" content="GARS1" /><meta name="citation_keywords" content="GDAP1" /><meta name="citation_keywords" content="GJB1" /><meta name="citation_keywords" content="GNB4" /><meta name="citation_keywords" content="HSPB1" /><meta name="citation_keywords" content="HSPB8" /><meta name="citation_keywords" content="IGHMBP2" /><meta name="citation_keywords" content="KIF1B" /><meta name="citation_keywords" content="LITAF" /><meta name="citation_keywords" content="LMNA" /><meta name="citation_keywords" content="LRSAM1" 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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK1358_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK1358_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/char/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/cmt1/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK1358_"><span class="title" itemprop="name">Charcot-Marie-Tooth Hereditary Neuropathy Overview</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonyms: Distal Hereditary Motor Neuropathy (dHMN), Hereditary Motor/Sensory Neuropathy (HMSN)</div><p class="contrib-group"><span itemprop="author">Thomas D Bird</span>, MD.</p><a data-jig="ncbitoggler" href="#__NBK1358_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK1358_ai__"><div class="contrib half_rhythm"><span itemprop="author">Thomas D Bird</span>, MD<div class="affiliation small">Seattle VA Medical Center;<br />Departments of Neurology and Medicine<br />University of Washington<br />Seattle, Washington<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.notgnihsaw.u@zornmot" class="oemail">ude.notgnihsaw.u@zornmot</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">September 28, 1998</span>; Last Revision: <span itemprop="dateModified">January 23, 2025</span>.</p><p><em>Estimated reading time: 30 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="cmt.Summary" itemprop="description"><h2 id="_cmt_Summary_">Summary</h2><p>The purpose of this overview is to:</p><dl class="temp-labeled-list"><dt>1.</dt><dd><p class="no_top_margin">Describe the <a href="#cmt.Clinical_Characteristics_of_CharcotM">clinical characteristics</a> of CMT hereditary neuropathy;</p></dd><dt>2.</dt><dd><p class="no_top_margin">Review the <a href="#cmt.Causes_of_CharcotMarieTooth_CMT_Here">causes</a> of CMT hereditary neuropathy;</p></dd><dt>3.</dt><dd><p class="no_top_margin">Provide an <a href="#cmt.Evaluation_Strategies_to_Identify_th">evaluation strategy</a> to identify the cause of CMT hereditary neuropathy in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> (when possible);</p></dd><dt>4.</dt><dd><p class="no_top_margin">Review <a href="#cmt.Management_of_CharcotMarieTooth_CMT">management</a> of CMT hereditary neuropathy;</p></dd><dt>5.</dt><dd><p class="no_top_margin">Inform <a href="#cmt.Genetic_Counseling_of_Family_Members">genetic counseling</a> of family members of an individual with CMT hereditary neuropathy.</p></dd></dl>
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</div><div id="cmt.Clinical_Characteristics_of_CharcotM"><h2 id="_cmt_Clinical_Characteristics_of_CharcotM_">1. Clinical Characteristics of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</h2><p>Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN).</p><div id="cmt.Clinical_Findings"><h3>Clinical Findings</h3><p>Individuals with CMT manifest symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to third decade and resulting in weakness and atrophy of the muscles in the feet and/or hands. The affected individual typically has distal muscle weakness and atrophy, weak ankle dorsiflexion, depressed tendon reflexes, and <i>pes cavus</i> foot deformity (i.e., high-arched feet).</p><p>Muscle weakness is often associated with mild to moderate distal sensory loss. Although usually described as "painless," the neuropathy can be painful [<a class="bk_pop" href="#cmt.REF.azevedo.2018.273">Azevedo et al 2018</a>]. Sensory loss can most easily be demonstrated by a decreased appreciation of vibration, but can also include impaired sensation of pain/pinprick, temperature, and joint position.</p><p>Sensorineural hearing loss can occur.</p><p>The clinical diagnosis of CMT in a symptomatic person is based on characteristic findings of peripheral neuropathy on medical history and physical examination.</p></div><div id="cmt.Classification_of_CMT_Type"><h3>Classification of CMT Type</h3><p><b>Traditional classification of CMT</b> (e.g., CMT1, CMT2, and DI-CMT [dominant intermediate]) was based on peripheral neuropathy type as determined by nerve conduction velocity (NCV) and <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a> as determined by family history. As understanding of the genetic basis of CMT gradually evolved, letters in alphabetic order were assigned to the CMT type to represent the <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> involved (e.g., CMT1A).</p><p>In general the three <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> neuropathy types based on NCV (normal >40-45 meters/second) were the following [<a class="bk_pop" href="#cmt.REF.stojkovic.2016.775">Stojkovic 2016</a>]:</p><ul><li class="half_rhythm"><div><b>Demyelinating</b> (CMT1) defined as NCV <35 m/s. The clinical findings of distal muscle weakness and atrophy and sensory loss were usually slowly progressive and often associated with <i>pes cavus</i> foot deformity and bilateral foot drop. Affected individuals usually became symptomatic between ages five and 25 years. Fewer than 5% of individuals became wheelchair dependent. Life span was not shortened.</div></li><li class="half_rhythm"><div><b>Axonal (non-demyelinating)</b> (CMT2) defined as NCV >45m/s. The clinical findings were distal muscle weakness and atrophy. Although axonal peripheral neuropathy shows extensive clinical overlap with demyelinating peripheral neuropathy, in general individuals with axonal neuropathy tended to be less disabled and have less sensory loss than individuals with demyelinating neuropathy.</div></li><li class="half_rhythm"><div><b>Dominant intermediate CMT</b> (DI-CMT) defined as NCV 35-45 m/s. The clinical findings are a relatively typical CMT <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. NCVs are so variable that within a family some affected individuals fall in the demyelinating neuropathy range, whereas others fall in the axonal neuropathy range.</div></li></ul><p><b>Newly proposed CMT naming system.</b> As more genes causing CMT were identified and as the overlap of neuropathy phenotypes and modes of inheritance became apparent, the above alphanumeric classification system proved unwieldy and inadequate. In 2018, <a class="bk_pop" href="#cmt.REF.magy.2018.e870">Magy et al [2018]</a> proposed a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-based classification of inherited neuropathies (see <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a>, which includes a comprehensive list of CMT-associated genes and correlation with the alphanumeric classification). An additional advantage of the <a class="bk_pop" href="#cmt.REF.magy.2018.e870">Magy et al [2018]</a> classification system is that an individual's findings can be described in terms of <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>, neuropathy type, and gene (see <a href="#cmt.Evaluation_Strategies_to_Identify_th">Evaluation Strategies</a>).</p></div><div id="cmt.Nomenclature"><h3>Nomenclature</h3><p><b>Distal hereditary motor neuropathy (dHMN) and distal spinal muscular atrophy (DSMA) = CMT.</b> In their study of distal hereditary motor neuropathies (the clinically and genetically heterogeneous group of disorders characterized by lower motor neuron dysfunction), <a class="bk_pop" href="#cmt.REF.bansagi.2017.1226">Bansagi et al [2017]</a> reported that pathogenic variants in the same genes can cause the phenotypes known as dHMN and DSMA, leading them to conclude that dHMN and motor CMT should not be classified differently.</p><p><b>Dejerine-Sottas syndrome (DSS)</b> originally referred to a severe demyelinating neuropathy of infancy and childhood associated with very slow NCVs, elevated CSF protein, marked clinical weakness, and hypertrophic nerves with onion bulb formation. Although the term "DSS" is still sometimes used to indicate a clinical <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>, it does not imply an inheritance pattern or a specific genetic defect [<a class="bk_pop" href="#cmt.REF.parman.2004.2540">Parman et al 2004</a>].</p></div><div id="cmt.Differential_Diagnosis_of_CMT"><h3>Differential Diagnosis of CMT</h3><p>CMT – the subject of this overview – needs to be distinguished from the following entities: systemic disorders with neuropathy, other types of hereditary neuropathy (<a href="/books/NBK1358/table/cmt.T.other_hereditary_neuropathies/?report=objectonly" target="object" rid-ob="figobcmtTotherhereditaryneuropathies">Table1</a>), distal myopathies (<a href="/books/NBK1358/table/cmt.T.distal_myopathies/?report=objectonly" target="object" rid-ob="figobcmtTdistalmyopathies">Table 2</a>), hereditary sensory neuropathies (HSN), and acquired disorders. Note: These entities are not discussed elsewhere in this overview.</p><div id="cmt.Systemic_Disorders_with_Neuropathy"><h4>Systemic Disorders with Neuropathy</h4><p>Blindness, seizures, dementia, and intellectual disability are not part of the CMT hereditary neuropathy <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> discussed in this overview and suggest a different diagnosis, including childhood-onset disorders with significant CNS involvement such as <a href="/books/n/gene/mld/">metachromatic leukodystrophy</a>, <a href="/books/n/gene/krabbe/">Krabbe disease</a>, <a href="/books/n/gene/pmd/">Pelizaeus-Merzbacher disease</a>, and <a href="/books/n/gene/lowe/">Lowe syndrome</a>.</p></div><div id="cmt.Other_Hereditary_Neuropathies"><h4>Other Hereditary Neuropathies</h4><p><a href="/books/NBK1358/table/cmt.T.other_hereditary_neuropathies/?report=objectonly" target="object" rid-ob="figobcmtTotherhereditaryneuropathies">Table 1</a> includes multisystem disorders in which peripheral motor neuropathy may be a presenting feature (i.e., before multisystem involvement is appreciated) and/or one manifestation in a complex neurologic disorder.</p><div id="cmt.T.other_hereditary_neuropathies" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Other Hereditary Neuropathies</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1358/table/cmt.T.other_hereditary_neuropathies/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__cmt.T.other_hereditary_neuropathies_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Other</th><th id="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>GeneReview</i> / OMIM</th></tr></thead><tbody><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ABCD1</i>
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</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Adrenomyeloneuropathy</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive stiffness & weakness of legs, sphincter disturbances, sexual dysfunction, & often, impaired adrenocortical function</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/x-ald/">X-Linked Adrenoleukodystrophy</a>
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</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ABHD12</i>
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</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC)</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/612674" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612674</a></td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>FXN</i>
|
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</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Friedreich ataxia</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">May present w/sensory loss, depressed tendon reflexes, & high-arched feet</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/friedreich/">Friedreich Ataxia</a>
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</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>MT-ATP6</i>
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</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">mt</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NARP</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurogenic muscle weakness, ataxia, & retinitis pigmentosa</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<a href="/books/n/gene/narp/">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a>
|
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</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>PEX7</i><br />(<i>PHYH</i>)</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Refsum disease</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anosmia & early-onset retinitis pigmentosa ± neuropathy, deafness, ataxia, &/or ichthyosis</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/refsum/">Refsum Disease</a>
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</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>PMP22</i>
|
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</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hereditary neuropathy with liability to pressure palsies</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Acute onset of recurrent, painless, focal sensorimotor neuropathy in a single nerve</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hnpp/">Hereditary Neuropathy with Liability to Pressure Palsies</a>
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||
</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>SCN9A</i>
|
||
</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>SCN9A</i>-related inherited erythromelalgia</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent attacks of bilateral & symmetric intense pain, redness, warmth, & swelling involving feet & (less frequently) hands</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/etha/"><i>SCN9A</i>-Related Inherited Erythromelalgia</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>SEPTIN9</i>
|
||
</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hereditary neuralgic amyotrophy</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent sudden onset of shoulder or upper arm pain & weakness ± sensory loss; later atrophy of the upper extremity</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/162100" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">162100</a></td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SPART</i>
|
||
</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Troyer syndrome</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive spastic paraparesis, dysarthria, & pseudobulbar palsy; distal amyotrophy; motor & cognitive delays</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/spg20/">Troyer Syndrome</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TTR</i>
|
||
</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Transthyretin-associated amyloidosis</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sensorimotor & autonomic neuropathy; cardiomyopathy; nephropathy; CNS amyloidosis</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/tfap/">Familial Transthyretin Amyloidosis</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TYMP</i>
|
||
</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MNGIE</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive gastrointestinal dysmotility; cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; demyelinating peripheral neuropathy</td><td headers="hd_h_cmt.T.other_hereditary_neuropathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/mngie/">Mitochondrial Neurogastrointestinal Encephalopathy Disease</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; mt = mitochondrial; XL = <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a></p></div></dd><dt>1. </dt><dd><div id="cmt.TF.1.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd></dl></div></div></div></div><div id="cmt.Distal_Myopathies"><h4>Distal Myopathies</h4><p>Some genetic myopathies that present with weakness in the distal lower and/or upper limbs can be confused with CMT (<a href="/books/NBK1358/table/cmt.T.distal_myopathies/?report=objectonly" target="object" rid-ob="figobcmtTdistalmyopathies">Table 2</a>). In these so-called "distal myopathies" peripheral nerve electrophysiology is normal and EMG and muscle biopsy are myopathic.</p><div id="cmt.T.distal_myopathies" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Distal Myopathies</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1358/table/cmt.T.distal_myopathies/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__cmt.T.distal_myopathies_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_cmt.T.distal_myopathies_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_cmt.T.distal_myopathies_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Clinical Manifestations</th><th id="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" style="text-align:left;vertical-align:middle;"><i>GeneReview</i> / OMIM</th></tr><tr><th headers="hd_h_cmt.T.distal_myopathies_1_1_1_4" id="hd_h_cmt.T.distal_myopathies_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Mean Age of Onset</th><th headers="hd_h_cmt.T.distal_myopathies_1_1_1_4" id="hd_h_cmt.T.distal_myopathies_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Initial Muscle Group Involved</th></tr></thead><tbody><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ANO5</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Miyoshi dystrophy type 3</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ano5-md/"><i>ANO5</i>-Related Muscle Diseases</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CAV3</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD<br />AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/phenotypicSeries/PS601419" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PS601419</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CRYAB</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal myofibrillar myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Adult</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal leg & hands + cardiomyopathy</td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DES</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD<br />AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mesminopathy myofibrillar myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15-40 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal leg & forearm + cardiomyopathy</td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DNAJB6</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myofibrillar myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Teens-adult</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal leg</td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DYSF</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Miyoshi early-adult-onset myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15-20 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Posterior compartment in legs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/miyoshi/">Dysferlinopathy</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FLNC</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal myopathy 4</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/614065" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614065</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GNE</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nonaka early-adult-onset distal myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15-20 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anterior compartment in legs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ibm/"><i>GNE</i>-Related Myopathy</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LDB3</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Zaspopathy (Markesbery-Griggs late-onset distal myopathy)</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>40 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anterior compartment in legs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/phenotypicSeries/PS601419" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PS601419</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MATR3</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amyotrophic lateral sclerosis 21 (Formerly MPD2)</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">35-60 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Asymmetric lower leg & hands, dysphonia</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/als-overview/">Amyotrophic Lateral Sclerosis Overview</a>, OMIM <a href="https://omim.org/entry/606070" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">606070</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MYH7</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Laing early-onset distal myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><20 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anterior compartment in legs & neck flexors</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/mpd1/">Laing Distal Myopathy</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MYOT</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal myotilinopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>40 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Posterior > anterior in legs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/phenotypicSeries/PS601419" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PS601419</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NEB</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal nebulin myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2-15 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anterior lower leg</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/256030" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">256030</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TIA1</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD<br />AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Welander distal myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>40 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal upper limbs (finger & wrist extensors)</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/604454" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">604454</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TCAP</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal onset in telethoninopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Lower leg</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/601954" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601954</a></td></tr><tr><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TTN</i>
|
||
</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Udd distal myopathy</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>35 yrs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_4 hd_h_cmt.T.distal_myopathies_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anterior compartment in legs</td><td headers="hd_h_cmt.T.distal_myopathies_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/udd/">Udd Distal Myopathy</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a></p></div></dd><dt>1. </dt><dd><div id="cmt.TF.2.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd></dl></div></div></div></div><div id="cmt.Hereditary_Sensory_Neuropathy_and_He"><h4>Hereditary Sensory Neuropathy and Hereditary Sensory and Autonomic Neuropathy</h4><p>Hereditary sensory neuropathy (HSN) and hereditary sensory and autonomic neuropathy (HSAN) can produce mild, moderate, or severe sensory loss without muscle weakness or atrophy. <a class="bk_pop" href="#cmt.REF.rotthier.2012.73">Rotthier et al [2012]</a> have reviewed the clinical and genetic factors associated with six <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> and seven <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> types.</p><div id="cmt.T.hereditary_sensory_neuropathy_hsn" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Hereditary Sensory Neuropathy (HSN) and Hereditary Sensory and Autonomic Neuropathy (HSAN)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1358/table/cmt.T.hereditary_sensory_neuropathy_hsn/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__cmt.T.hereditary_sensory_neuropathy_hsn_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Other</th><th id="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>GeneReview</i> / OMIM</th></tr></thead><tbody><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATL1</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSN1D</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/613708" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613708</a></td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATL3</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSN1F</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/615632" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615632</a></td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DNMT1</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSN1E</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Deafness, dementia</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/dnmt1-ddsn/"><i>DNMT1</i>-Related Dementia, Deafness, and Sensory Neuropathy</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DST</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN6</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/614653" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614653</a></td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RETREG1</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN2B</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hyperhidrosis, urinary incontinence</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsan2/">Hereditary Sensory and Autonomic Neuropathy Type II</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ELP1</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN3</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Episodic hypertension, hyperhidrosis, cyclic vomiting</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/fd/">Familial Dysautonomia</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>KIF1A</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSN2C</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsan2/">Hereditary Sensory and Autonomic Neuropathy Type II</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NGF</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN5</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cip-overview/">Congenital Insensitivity to Pain Overview</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NTRK1</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN4</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsan4/">Congenital Insensitivity to Pain with Anhidrosis</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PRDM12</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN8</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cip-overview/">Congenital Insensitivity to Pain Overview</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SCN11A</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN7</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastrointestinal dysfunction</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SCN9A</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN2D</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Insensitivity to pain (also erythromelalgia)</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsan2/">Hereditary Sensory and Autonomic Neuropathy Type II</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SPTLC1</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN1A</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Perforating ulcers</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsn1/">Hereditary Sensory Neuropathy Type IA</a>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SPTLC2</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN1C</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/613640" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613640</a></td></tr><tr><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>WNK1</i>
|
||
</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN2A</td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.hereditary_sensory_neuropathy_hsn_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsan2/">Hereditary Sensory and Autonomic Neuropathy Type II</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">HSAN = hereditary sensory and autonomic neuropathy; HSN = hereditary sensory neuropathy</p></div></dd><dt>1. </dt><dd><div id="cmt.TF.3.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd></dl></div></div></div></div><div id="cmt.Acquired_Neuropathies"><h4>Acquired Neuropathies</h4><p>Acquired (non-genetic) neuropathies include alcoholism, vitamin B<sub>12</sub> deficiency, thyroid disease, diabetes mellitus, HIV infection, vasculitis, leprosy, neurosyphilis, amyloid deposition associated with chronic inflammation, occult neoplasm, heavy metal intoxication, and inflammatory and immune-mediated neuropathies such as chronic inflammatory demyelinating polyneuropathy (CIDP).</p></div></div></div><div id="cmt.Causes_of_CharcotMarieTooth_CMT_Here"><h2 id="_cmt_Causes_of_CharcotMarieTooth_CMT_Here_">2. Causes of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</h2><p>More than 80 different genes are associated with CMT [<a class="bk_pop" href="#cmt.REF.stojkovic.2016.775">Stojkovic 2016</a>].</p><p><a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> presents information on 74 of the known CMT-associated genes including <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a> and neuropathy type (axonal, demyelinating, and dominant intermediate). Organization of this table is modeled on the newly proposed classification system of <a class="bk_pop" href="#cmt.REF.magy.2018.e870">Magy et al [2018]</a>. Note that the column titled <b>Other Designations</b> includes designations used in other classification systems which include dominant intermediate CMT (DI-CMT), distal spinal muscular atrophy (DSMA), hereditary sensory and autonomic neuropathy (HSAN), and distal hereditary motor neuropathy (dHMN).</p><div id="cmt.T.cmt_genes_mode_of_inheritance_neur" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>CMT: Genes, Mode of Inheritance, Neuropathy Phenotype</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__cmt.T.cmt_genes_mode_of_inheritance_neur_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3" colspan="3" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Neuropathy Type</th><th id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" style="text-align:left;vertical-align:middle;">Other Phenotypic Features / Comments</th><th id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" style="text-align:left;vertical-align:middle;"><i>GeneReview</i> / OMIM / Reference</th><th id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="2" scope="col" colspan="1" headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" style="text-align:left;vertical-align:middle;">Other Designations <sup>2</sup></th></tr><tr><th headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3" id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Ax</th><th headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3" id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">De</th><th headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3" id="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In</th></tr></thead><tbody><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" colspan="8" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Most commonly involved genes <sup>3</sup></b>
|
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</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GDAP1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Vocal cord paresis <sup>4</sup></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cmt-4a/"><i>GDAP1</i>-Related Hereditary Motor and Sensory Neuropathy</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2K</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">CMT4A<br />CMT2H<br />CMT2K<br />CMTRIA</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">AD, AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/607831" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607831</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GJB1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Family history may appear to be AD as females can be as severely affected as males; CNS myelin may be affected.</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cmtx/">Charcot-Marie-Tooth Neuropathy X Type 1</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1X</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HINT1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neuromyotonia</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/601314" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601314</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MFN2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD, AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Optic atrophy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cmt2a/">Charcot-Marie-Tooth Neuropathy Type 2A</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2A2A/B</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MPZ</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/118200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">118200</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1B<br />CMT2I/J<br />DI-CMTD</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PMP22</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/601097" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601097</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1A<br />CMT1E</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SH3TC2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cmt4c/"><i>SH3TC2</i>-Related Hereditary Motor and Sensory Neuropathy</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4C</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SORD</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal muscle atrophy & weakness</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.cortese.2020.473">Cortese et al [2020]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" colspan="8" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Other genes</b>
|
||
</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AARS1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.setlere.2022.e200019">Setlere et al [2022]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2N</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ABHD12</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Deafness, cataract, retinitis pigmentosa</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/613599" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613599</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">PHARC</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AIFM1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Deafness, intellectual disability</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/300169" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300169</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMTX4</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ARHGEF10</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/608136" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">608136</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATP1A1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.lassuthova.2018.505">Lassuthova et al [2018]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>ATP7A</i> <sup>5</sup></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal lower extremities</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/menkes/"><i>ATP7A</i>-Related Copper Transport Disorders</a>, OMIM <a href="https://omim.org/entry/300011" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300011</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>BAG3</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myofibrillar myopathy, cardiomyopathy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/603883" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">603883</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>BSCL2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal lower extremities;<br />UMN involvement can cause spastic paraplegia</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/spg17/"><i>BSCL2</i>-Related Neurologic Disorders / Seipinopathy</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">dHMN5A</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CADM3</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Forearm & hand atrophy as well as lower limb</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.rebelo.2021.1197">Rebelo et al [2021]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CNTNAP1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Arthrogryposis, leukodystrophy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/602346" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602346</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>COA7</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.higuchi.2018.1622">Higuchi et al [2018]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DCTN1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal lower extremities</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/601143" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601143</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">dHMN7B</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DCTN2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Vocal cord paresis <sup>4</sup></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/607376" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607376</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DGAT2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/606983" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">606983</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DHTKD1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/614984" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614984</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2Q</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DNAJB2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal motor neuropathy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#cmt.REF.frasquet.2016.1265">Frasquet et al [2016]</a>, <a class="bk_pop" href="#cmt.REF.lupo.2016.81">Lupo et al [2016]</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DSMA5</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DNMT1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hearing loss, dementia</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/dnmt1-ddsn/"><i>DNMT1</i>-Related Dementia, Deafness, and Sensory Neuropathy</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DMNT1</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DNM2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/606482" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">606482</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2M<br />DI-CMTB</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DRP2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Autism</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/300052" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300052</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DYNC1H1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SMA</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/dync1h1-dis/"><i>DYNC1H1</i>-Related Disorders</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2O</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>EGR2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/129010" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">129010</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1D</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">CMT4E</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FGD4</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/609311" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">609311</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4H</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FIG4</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/611228" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">611228</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4J</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GARS1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Onset in hands</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cmt2d/"><i>GARS1</i>-Associated Axonal Neuropathy</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2D<br />dHMN5A</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>GNB4</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/610863" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610863</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DI-CMTF</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HARS1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/142810" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">142810</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2W</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HSPB1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/602195" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602195</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2F<br />dHMN2B</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HSPB3</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/604624" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">604624</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">dHMN2C</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HSPB8</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Adult onset</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/608014" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">608014</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2L<br />dHMN2A</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>IGHMBP2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/600502" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600502</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2S<br />DSMA1</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>INF2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Glomerulosclerosis</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/610982" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610982</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ITPR3</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Marked variability in onset age & severity</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.beijer.2025.227">Beijer et al [2025]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>KIF1B</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/605995" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">605995</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2A1</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>KIF5A</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spasticity</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/602821" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602821</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LITAF</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/603795" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">603795</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1C</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LMNA</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/150330" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">150330</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2B1</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LRSAM1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD, AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/610933" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610933</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2G<br />CMT2P</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MARS1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/156560" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">156560</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2U</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MCM3AP</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Childhood onset, severe</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/603294" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">603294</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MME</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR, AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/120520" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">120520</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2T</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MORC2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/616661" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">616661</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2Z</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MPV17</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navaho neurohepatopathy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/137960" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">137960</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MPZ</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/118200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">118200</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1B<br />CMT2I/J<br />DI-CMTD</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MTMR2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Vocal cord paresis <sup>4</sup></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/603557" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">603557</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4B1</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NAGLU</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/609701" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">609701</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2V</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NDRG1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/605262" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">605262</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4D</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NEFH</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/162230" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">162230</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NEFL</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD, AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/162280" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">162280</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1F/2E</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PDK3</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/300906" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300906</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMTX6</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PLEKHG5</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal predominant</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/611101" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">611101</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DSMA4</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PMP2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/618279" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618279</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT1G</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PNKP</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/605610" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">605610</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2B2</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PRPS1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinopathy, deafness</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Charcot-Marie-Tooth Neuropathy X Type 5 (See <a href="/books/n/gene/arts/">Phosphoribosylpyrophosphate Synthetase Deficiency</a>.)</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMTX5</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PRX</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/605725" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">605725</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4F</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PTRH2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hearing loss</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/608625" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">608625</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>RAB7</i>A</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Prominent sensory loss</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/602298" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602298</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2B</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SARS1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sensorimotor neuropathy, distal muscle atrophy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.he.2023.244">He et al [2023]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SBF1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/603560" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">603560</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4B3</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SBF2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/607697" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607697</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4B2</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SCO2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Motor neuropathy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#cmt.REF.rebelo.2018.662">Rebelo et al [2018]</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SETX</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distal lower extremities</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/608465" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">608465</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">FALS</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SIGMAR1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Motor neuropathy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/601978" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601978</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SGPL1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent mononeuropathy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sgpl1/">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SPG11</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spasticity, cognitive decline</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/610844" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610844</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2X<br />ALS5</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SPTLC1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">May be assoc w/a juvenile ALS syndrome <sup>6</sup></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/605712" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">605712</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">HSAN1A</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TRIM2</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Vocal cord paresis <sup>4</sup></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/614141" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614141</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2R</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TRPV4</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Vocal cord paresis, <sup>4</sup> skeletal dysplasia</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cmt2c/">Autosomal Dominant <i>TRPV4</i> Disorders</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2C</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>VCP</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Inclusion body myopathy, dementia</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ibmpfd/">Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia</a>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2Y</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>VWA1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Motor neuropathy, <i>pes cavus</i>, & proximal muscle weakness</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/619216" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">619216</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>WARS</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Motor neuropathy</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/191050" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">191050</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">dHMN9</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>YARS1</i>
|
||
</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/603623" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">603623</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DI-CMTC</td></tr><tr><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown <sup>7</sup></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">●</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_3 hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rapid progression, severe hand weakness</td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/302802" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">302802</a></td><td headers="hd_h_cmt.T.cmt_genes_mode_of_inheritance_neur_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMTX3</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; ALS = amyotrophic lateral sclerosis; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; Ax = axonal; De = demyelinating; dHMN = distal hereditary motor neuropathy; DI-CMT = dominant intermediate CMT; DSMA = distal spinal muscular atrophy; HSAN = hereditary sensory and autonomic neuropathy; In = intermediate; UMN = upper motor neuron; XL = <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a></p></div></dd><dt>1. </dt><dd><div id="cmt.TF.4.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd><dt>2. </dt><dd><div id="cmt.TF.4.2"><p class="no_margin">Designations used in other classification systems</p></div></dd><dt>3. </dt><dd><div id="cmt.TF.4.3"><p class="no_margin">Based on <a class="bk_pop" href="#cmt.REF.cornett.2016.645">Cornett et al [2016]</a> and <a class="bk_pop" href="#cmt.REF.cornett.2017.353">Cornett et al [2017]</a></p></div></dd><dt>4. </dt><dd><div id="cmt.TF.4.4"><p class="no_margin">Can be the first manifestation of CMT. Typically presents as hoarse voice and stridor associated with use of accessory inspiratory muscles [<a class="bk_pop" href="#cmt.REF.zambon.2017.487">Zambon et al 2017</a>].</p></div></dd><dt>5. </dt><dd><div id="cmt.TF.4.5"><p class="no_margin"><i>ATP7A</i>-CMT shares none of the clinical or biochemical abnormalities characteristic of the allelic disorders Menkes disease and occipital horn syndrome (see <a href="/books/n/gene/menkes/"><i>ATP7A</i>-Related Copper Transport Disorders</a>).</p></div></dd><dt>6. </dt><dd><div id="cmt.TF.4.6"><p class="no_margin">
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<a class="bk_pop" href="#cmt.REF.johnson.2021.1236">Johnson et al [2021]</a>
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</p></div></dd><dt>7. </dt><dd><div id="cmt.TF.4.7"><p class="no_margin">A 78-kb interchromosomal <a class="def" href="/books/n/gene/glossary/def-item/insertion/">insertion</a> into the CMTX3 <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> at Xq26.3-q27.3 requiring a custom-targeted assay [<a class="bk_pop" href="#cmt.REF.brewer.2016.e1006177">Brewer et al 2016</a>, <a class="bk_pop" href="#cmt.REF.kanhangad.2018.e1706">Kanhangad et al 2018</a>]</p></div></dd></dl></div></div></div></div><div id="cmt.Evaluation_Strategies_to_Identify_th"><h2 id="_cmt_Evaluation_Strategies_to_Identify_th_">3. Evaluation Strategies to Identify the Genetic Cause of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy in a Proband</h2><p>Establishing a specific genetic cause of CMT hereditary neuropathy can aid in discussions of prognosis (which are beyond the scope of this <i>GeneReview</i>) and <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a>.</p><p>Establishing the specific cause of CMT hereditary neuropathy for a given individual involves obtaining a medical history and performing a physical examination to exclude <a href="#cmt.Differential_Diagnosis_of_CMT">disorders that differ from CMT</a> as defined in this overview; these include <a href="#cmt.Systemic_Disorders_with_Neuropathy">systemic disorders with neuropathy</a>, <a href="#cmt.Other_Hereditary_Neuropathies">other hereditary neuropathies</a> (<a href="/books/NBK1358/table/cmt.T.other_hereditary_neuropathies/?report=objectonly" target="object" rid-ob="figobcmtTotherhereditaryneuropathies">Table1</a>), <a href="#cmt.Distal_Myopathies">distal myopathies</a> (<a href="/books/NBK1358/table/cmt.T.distal_myopathies/?report=objectonly" target="object" rid-ob="figobcmtTdistalmyopathies">Table 2</a>), <a href="#cmt.Hereditary_Sensory_Neuropathy_and_He">hereditary sensory neuropathies (HSN) and hereditary sensory and autonomic neuropathies (HSAN)</a> (<a href="/books/NBK1358/table/cmt.T.hereditary_sensory_neuropathy_hsn/?report=objectonly" target="object" rid-ob="figobcmtThereditarysensoryneuropathyhsn">Table 3</a>), and <a href="#cmt.Acquired_Neuropathies">acquired disorders</a>.</p><p><b>For those individuals with CMT (as defined in this overview)</b> a detailed family history and the use of <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> are essential to establishing a specific genetic cause.</p><div id="cmt.Family_History"><h3>Family History</h3><p>A three-generation family history with attention to other relatives with neurologic signs and symptoms should be obtained. Documentation of relevant findings in relatives can be accomplished either through direct examination of those individuals or review of their medical records, including the results of <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> and EMG and NCV studies.</p><p>Individuals with CMT may have a negative family history for many reasons, including mild subclinical expression in other family members, <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> inheritance, or a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> associated with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> inheritance [<a class="bk_pop" href="#cmt.REF.rudniksch_neborn.2016.34">Rudnik-Schöneborn et al 2016</a>] or <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> inheritance.</p></div><div id="cmt.Molecular_Genetic_Testing"><h3>Molecular Genetic Testing</h3><p>Health care providers ordering genetic testing should be familiar with the genetics of CMT. Given the complexity of interpreting genetic test results and their implications for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a>, health care providers should consider referral to a neurogenetics center or a genetic counselor specializing in neurogenetics (see <a href="https://www.nsgc.org/page/find-a-gc-search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NSGC – Find a Genetic Counselor</a>).</p><p>Molecular genetic testing approaches can include <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted testing (single-gene testing, <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a>) and comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing (<a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a>, <a class="def" href="/books/n/gene/glossary/def-item/exome-array/">exome array</a>). Gene-targeted testing requires the clinician to hypothesize which gene(s) are likely involved, whereas genomic testing does not.</p><div id="cmt.Step_1"><h4>Step 1</h4><p><b>Single-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> testing for <i>PMP22</i> <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a>/<a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> is recommended as the first test in all probands with CMT as defined in this <i>GeneReview</i>.</b>
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<i>PMP22</i> duplication (a 1.5-Mb duplication at 17p11.2 that includes <i>PMP22</i>) accounts for as much as 50% of all CMT and, thus, <i>PMP22</i> <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> is recommended as the first test for all probands with CMT. Note: (1) Because the methodology to detect <i>PMP22</i> duplication differs from that used in many multigene panels, this test needs to be ordered separately unless a laboratory explicitly states that <i>PMP22</i> deletion/duplication analysis is included in its <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a>. (2) Conversely, if <i>PMP22</i> deletion/duplication analysis has already been performed and is normal, and if the next step in testing an individual is use of a multigene panel, it is appropriate to request that the laboratory not include <i>PMP22</i> deletion/duplication analysis.</p></div><div id="cmt.Step_2"><h4>Step 2</h4><p><b>A <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> that includes the eight most commonly involved genes (i.e., <i>GDAP1</i>, <i>GJB1</i>, <i>HINT1</i>, <i>MFN2</i>, <i>MPZ</i>, <i>PMP22</i>, <i>SH3CT2,</i> and <i>SORD</i>) as well as some or all of the other genes listed in <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> is most likely to identify the genetic cause of the neuropathy while limiting identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> and pathogenic variants in genes that do not explain the underlying <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. Note: (1) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with CMT as defined in this <i>GeneReview</i>. Of note, given the rarity of some of the genes associated with CMT some panels may not include all the genes in <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> analysis that includes genes specified by the clinician. (4) Methods used in a panel may include <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>, and/or other non-sequencing-based tests.</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</p></div><div id="cmt.Step_3"><h4>Step 3</h4><p><b>Comprehensive</b>
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<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> – which does not require the clinician to determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved – may be considered if a genetic cause has not been identified in <a href="#cmt.Step_1">Step 1</a> and <a href="#cmt.Step_2">Step 2</a>. <b>Exome sequencing</b> is most commonly used; <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> is also possible.</p><p>For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><p><b>Expressing the particular type of CMT in a given individual</b> based on the results of <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> in the context of inheritance, neurologic examination, and <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> involved as proposed by <a class="bk_pop" href="#cmt.REF.magy.2018.e870">Magy et al [2018]</a> is illustrated for <a href="/books/n/gene/cmt-4a/"><i>GDAP1</i>-related hereditary motor and sensory neuropathy</a> (<a href="/books/NBK1358/table/cmt.T.gdap1related_cmt_classification/?report=objectonly" target="object" rid-ob="figobcmtTgdap1relatedcmtclassification">Table 5</a>).</p><div id="cmt.T.gdap1related_cmt_classification" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p><i>GDAP1</i>-Related CMT Classification</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1358/table/cmt.T.gdap1related_cmt_classification/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__cmt.T.gdap1related_cmt_classification_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Historical CMT<br />Classification</th><th id="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Type Based on NCV</th><th id="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#cmt.REF.magy.2018.e870">Magy et al [2018]</a> Classification</th></tr></thead><tbody><tr><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2H</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ax</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR-CMTAx-<i>GDAP1</i></td></tr><tr><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT2K</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ax</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD-CMTAx-<i>GDAP1</i></td></tr><tr><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMT4A</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">De</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR-CMTDe-<i>GDAP1</i></td></tr><tr><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CMTRIA</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In</td><td headers="hd_h_cmt.T.gdap1related_cmt_classification_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR-CMTIn-<i>GDAP1</i></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; Ax = axonal; De = demyelinating; In = intermediate; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; NCV = nerve conduction velocity</p></div></dd></dl></div></div></div></div></div></div><div id="cmt.Management_of_CharcotMarieTooth_CMT"><h2 id="_cmt_Management_of_CharcotMarieTooth_CMT_">4. Management of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</h2><div id="cmt.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>Reviews of treatment approaches to CMT [<a class="bk_pop" href="#cmt.REF.carter.2008.94">Carter et al 2008</a>, <a class="bk_pop" href="#cmt.REF.young.2008.cd006052">Young et al 2008</a>, <a class="bk_pop" href="#cmt.REF.reilly.2009.1304">Reilly & Shy 2009</a>, <a class="bk_pop" href="#cmt.REF.corrado.2016.e3278">Corrado et al 2016</a>] as well as reviews of the diagnosis, natural history, and management of CMT [<a class="bk_pop" href="#cmt.REF.pareyson.2009a.654">Pareyson & Marchesi 2009a</a>, <a class="bk_pop" href="#cmt.REF.pareyson.2009b.207">Pareyson & Marchesi 2009b</a>, <a class="bk_pop" href="#cmt.REF.cornett.2017.353">Cornett et al 2017</a>, <a class="bk_pop" href="#cmt.REF.sivera_mascar_.2024">Sivera Mascaró et al 2024</a>] are available. Guidelines for the management of the pediatric population with CMT have been published [<a class="bk_pop" href="#cmt.REF.yiu.2022.530">Yiu et al 2022</a>].</p><p>Treatment is symptomatic. Affected individuals are often evaluated and managed by a multidisciplinary team that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists [<a class="bk_pop" href="#cmt.REF.grandis.2005.23">Grandis & Shy 2005</a>, <a class="bk_pop" href="#cmt.REF.mccorquodale.2016.7">McCorquodale et al 2016</a>].</p><p>Quality of life and defining disability have been measured and compared among various groups of individuals with CMT [<a class="bk_pop" href="#cmt.REF.burns.2010.726">Burns et al 2010</a>, <a class="bk_pop" href="#cmt.REF.ramchandren.2015.635">Ramchandren et al 2015</a>]. Persistent weakness of the hands and/or feet has important career and employment implications; anticipatory counseling is appropriate.</p><p>Special shoes, including those with good ankle support, may be needed. Affected individuals often require ankle/foot orthoses (AFOs) to correct foot drop and aid walking. Night splints have not improved ankle range of motion [<a class="bk_pop" href="#cmt.REF.refshauge.2006.193">Refshauge et al 2006</a>, <a class="bk_pop" href="#cmt.REF.keniscoskun.2016.31">Kenis-Coskun & Matthews 2016</a>].</p><p>Some individuals require forearm crutches or canes for gait stability; fewer than 5% of individuals need wheelchairs.</p><p>Daily heel cord stretching exercises to prevent Achilles tendon shortening are desirable, as well as gripping exercises for hand weakness [<a class="bk_pop" href="#cmt.REF.vinci.2005b.131">Vinci et al 2005b</a>].</p><p>Exercise is encouraged within the individual's capability and many individuals remain physically active [<a class="bk_pop" href="#cmt.REF.sman.2015.347">Sman et al 2015</a>].</p><p>Orthopedic surgery may be required to correct severe <i>pes cavus</i> foot deformity [<a class="bk_pop" href="#cmt.REF.guyton.2006.1003">Guyton 2006</a>, <a class="bk_pop" href="#cmt.REF.casasnovas.2008.350">Casasnovas et al 2008</a>, <a class="bk_pop" href="#cmt.REF.ward.2008.2631">Ward et al 2008</a>]. Clinical assessment and management approaches to foot deformities that may be associated with CMT are reviewed in <a class="bk_pop" href="#cmt.REF.laur_.2024.275">Laurá et al [2024]</a>. In a study of 45 individuals with CMT, <a class="bk_pop" href="#cmt.REF.chen.2025">Chen et al [2025]</a> showed that surgical correction of <i>pes cavus</i> is highly beneficial. Management regarding surgery referral and intervention ideally involves multidisciplinary input (i.e., neurology, physical therapy, and orthopedics). Surgery is sometimes required for hip dysplasia [<a class="bk_pop" href="#cmt.REF.chan.2006.203">Chan et al 2006</a>].</p><p>The cause of any pain should be identified as accurately as possible [<a class="bk_pop" href="#cmt.REF.padua.2006.417">Padua et al 2006</a>].</p><ul><li class="half_rhythm"><div>Musculoskeletal pain may respond to acetaminophen or nonsteroidal anti-inflammatory agents [<a class="bk_pop" href="#cmt.REF.carter.1998.1560">Carter et al 1998</a>].</div></li><li class="half_rhythm"><div>Neuropathic pain may respond to tricyclic antidepressants or drugs such as carbamazepine or gabapentin.</div></li></ul><p>Modafinil has been used to treat fatigue [<a class="bk_pop" href="#cmt.REF.carter.2006.412">Carter et al 2006</a>].</p><p>Those at increased risk for vocal cord paralysis (see <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a>) warrant consultation with specialists in otolaryngology at the time of diagnosis; evidence of vocal cord paralysis (hoarseness and/or stridor) at any time warrants periodic monitoring by specialists in otolaryngology to detect vocal cord hypomotility and quantify the degree of airway obstruction, a potentially lethal complication [<a class="bk_pop" href="#cmt.REF.zambon.2017.487">Zambon et al 2017</a>].</p><p>In a study of five individuals with CMT-associated sensorineural hearing loss and auditory neuropathy spectrum disorder, <a class="bk_pop" href="#cmt.REF.farber.2024.469">Farber et al [2024]</a> found that cochlear implants were safe and reliable and improved both hearing and speech. Note: Four of the described individuals were from a family with the <i>PMP22</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> c.199G>C (p.Ala67Pro) [<a class="bk_pop" href="#cmt.REF.kovach.1999.1580">Kovach et al 1999</a>].</p></div><div id="cmt.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Obesity is to be avoided because it makes walking more difficult.</p><p>Medications that are toxic or potentially toxic to persons with CMT comprise a spectrum of risk ranging from definite high risk to negligible risk. See the Charcot-Marie-Tooth Association <a href="https://www.cmtausa.org/living-with-cmt/managing-cmt/medications/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">website</a> (pdf) for an up-to-date list.</p><p>Chemotherapy for cancer that includes vincristine may be especially damaging to peripheral nerves and severely worsen CMT [<a class="bk_pop" href="#cmt.REF.graf.1996.1356">Graf et al 1996</a>, <a class="bk_pop" href="#cmt.REF.nishikawa.2008.519">Nishikawa et al 2008</a>].</p></div><div id="cmt.Pregnancy_Management"><h3>Pregnancy Management</h3><p>CMT appears to be an independent risk factor for maternal complications during pregnancy and delivery [<a class="bk_pop" href="#cmt.REF.pisciotta.2020.e3180">Pisciotta et al 2020</a>]. In a study of 157 deliveries in 193 pregnancies Pisciotta et al found that:</p><ul><li class="half_rhythm"><div>In 9.3% of pregnancies, new manifestations of CMT can appear and existing manifestations (including reduced strength and <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a>, cramps, and pain) can worsen, and may persist following pregnancy;</div></li><li class="half_rhythm"><div>Placenta previa (1.6%) abnormal nonvertex presentation (8.4%), and preterm delivery (20.3%) occurred more frequently in the pregnancies of mothers with CMT.</div></li></ul></div></div><div id="cmt.Genetic_Counseling_of_Family_Members"><h2 id="_cmt_Genetic_Counseling_of_Family_Members_">5. Genetic Counseling of Family Members of an Individual with Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="cmt.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>CMT hereditary neuropathy can be inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>, <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>, or <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> manner.</p><p>Genetic counseling regarding risk to family members depends on accurate diagnosis, determination of the <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a> in each family, and results of <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. Given the complexity of the genetics of CMT, health care providers should consider referring at-risk relatives to a neurogenetics center or genetic counselor specializing in neurogenetics (see <a href="https://www.nsgc.org/page/find-a-gc-search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NSGC – Find a Genetic Counselor</a> search tool).</p></div><div id="cmt.Autosomal_Dominant_Inheritance__Risk"><h3>Autosomal Dominant Inheritance – Risk to Family Members</h3><p>
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<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>Most individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> CMT have an affected parent.</div></li><li class="half_rhythm"><div>Some individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> CMT have the disorder as the result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. The proportion of cases caused by a <i>de novo</i> pathogenic variant varies depending on the involved <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>. In a study of 1,206 index cases, <a class="bk_pop" href="#cmt.REF.rudniksch_neborn.2016.34">Rudnik-Schöneborn et al [2016]</a> identified <i>de novo</i> variants in 1.3% of individuals with a <i>PMP</i> <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> and 25% of those with <i>MPZ</i> variants.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> found in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> cannot be detected in the leukocyte DNA of either parent, possible explanations include a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> pathogenic variant in the proband or <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> in a parent. Germline mosaicism has been reported [<a class="bk_pop" href="#cmt.REF.fabrizi.2001.101">Fabrizi et al 2001</a>].</div></li><li class="half_rhythm"><div>The family history of some individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> CMT may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or late onset of the disease in the affected parent. Therefore, an apparently negative family history cannot be confirmed unless appropriate clinical evaluation and/or <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> has been performed on the parents of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</div></li></ul><p><b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:</p><ul><li class="half_rhythm"><div>If a parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is affected and/or is known to have the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the proband, the risk to the sibs is 50%.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a known CMT-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> that cannot be detected in the leukocyte DNA of either parent, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is slightly greater than that of the general population because of the possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li><li class="half_rhythm"><div>If the parents have not been tested for the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> but are clinically unaffected, the risk to the sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> appears to be low. However, sibs of a proband with clinically unaffected parents are still presumed to be at increased risk for CMT because of the possibility of reduced <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> in a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> parent or the theoretic possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Each child of an individual with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> CMT has a 50% chance of inheriting the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Other family members.</b> The risk to other family members depends on the status of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents: if a parent has the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the parent's family members may be at risk.</p></div><div id="cmt.Autosomal_Recessive_Inheritance__Ris"><h3>Autosomal Recessive Inheritance – Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>The parents of an individual diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> CMT are obligate heterozygotes (i.e., carriers of one <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>).</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p>
|
||
<b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a>, and a 25% chance of being unaffected and not a carrier.</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The offspring of an individual with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> CMT are obligate heterozygotes (carriers) for a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Other family members.</b> Each sib of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents is at a 50% risk of being a <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> of a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Carrier detection.</b> Carrier testing for at-risk relatives requires prior identification of the CMT-related pathogenic variants in the family.</p></div><div id="cmt.XLinked_Inheritance__Risk_to_Family"><h3>X-Linked Inheritance – Risk to Family Members</h3><p>
|
||
<b>Parents of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>The father of an affected male will not have the disorder nor will he be <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> for the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>; therefore, he does not require further evaluation/testing.</div></li><li class="half_rhythm"><div>In a family with more than one affected individual, the mother of an affected male is an <a class="def" href="/books/n/gene/glossary/def-item/obligate-heterozygote/">obligate heterozygote</a>. Note: If a woman has more than one affected child and no other affected relatives and if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> cannot be detected in her leukocyte DNA, she most likely has <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li><li class="half_rhythm"><div>If a male is the only affected family member (i.e., represents a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case), the mother may be a <a class="def" href="/books/n/gene/glossary/def-item/heterozygote/">heterozygote</a> or the affected male may have a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, in which case the mother is not <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a>. The frequency of males with a <i>de novo</i> pathogenic variant is not known.</div></li></ul><p>
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||
<b>Parents of a female <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>A female <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> may have inherited the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from either her mother or her father, or the pathogenic variant may be <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a>.</div></li><li class="half_rhythm"><div>Detailed evaluation of the parents and review of the extended family history may help distinguish probands with a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from those with an inherited pathogenic variant. Molecular genetic testing of the mother (and possibly the father, or subsequently the father) can determine if the pathogenic variant was inherited.</div></li></ul><p><b>Sibs of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to sibs depends on the genetic status of the mother.</p><ul><li class="half_rhythm"><div>If the mother of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes and may or may not be affected.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> represents a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case (i.e., a single occurrence in a family) and if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> cannot be detected in the leukocyte DNA of the mother, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is low but greater than that of the general population because of the theoretic possibility of <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p><b>Sibs of a female <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to sibs depends on the genetic status of the parents.</p><ul><li class="half_rhythm"><div>If the mother of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes (carriers) and may or may not be affected.</div></li><li class="half_rhythm"><div>If the father of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, he will transmit it to all of his daughters and none of his sons.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> represents a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case (i.e., a single occurrence in a family) and if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> cannot be detected in the leukocyte DNA of either parent, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is low but greater than that of the general population because of the theoretic possibility of <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p>
|
||
<b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>Affected males transmit the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> to all of their daughters and none of their sons.</div></li><li class="half_rhythm"><div>Heterozygous females have a 50% chance of transmitting the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> to each child; sons who inherit the pathogenic variant will be affected; daughters may or may not be affected.</div></li></ul><p><b>Other family members.</b> If a parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> also has a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the parent's female family members may be at risk of being heterozygotes (asymptomatic or symptomatic) and the parent's male family members may be at risk of being affected depending on their genetic relationship to the proband.</p><p>Note: Molecular genetic testing may be able to identify the family member in whom a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> arose, information that could help determine genetic risk status of the extended family.</p><p><b>Heterozygote detection.</b> Molecular genetic testing of at-risk female relatives to determine their genetic status is most informative if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</p></div><div id="cmt.Related_Genetic_Counseling_Issues"><h3>Related Genetic Counseling Issues</h3><p>
|
||
<b>Predictive testing (i.e., testing of asymptomatic at-risk individuals)</b>
|
||
</p><ul><li class="half_rhythm"><div>Predictive testing for at-risk relatives is possible once the CMT-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in an affected family member.</div></li><li class="half_rhythm"><div>Potential consequences of such testing (including, but not limited to, socioeconomic changes and the need for long-term follow up and evaluation arrangements for individuals with a positive test result) as well as the capabilities and limitations of predictive testing should be discussed in the context of formal <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> prior to testing.</div></li></ul><p><b>Predictive testing in minors (i.e., testing of asymptomatic at-risk individuals younger than age 18 years).</b> For asymptomatic minors at risk for adult-onset conditions for which early treatment would have no beneficial effect on disease morbidity and mortality, predictive genetic testing is considered inappropriate, primarily because it negates the autonomy of the child with no compelling benefit. Further, concern exists regarding the potential unhealthy adverse effects that such information may have on family dynamics, the risk of discrimination and stigmatization in the future, and the anxiety that such information may cause.</p><p>In a family with an established diagnosis of CMT it is appropriate to consider testing of symptomatic individuals regardless of age.</p><p><b>Considerations in families with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</b> When neither parent of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> or <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> condition has the pathogenic variant identified in the proband or clinical evidence of the disorder, the pathogenic variant is likely <i>de novo</i>. However, non-medical explanations including <a class="def" href="/books/n/gene/glossary/def-item/alternate-paternity/">alternate paternity</a> or maternity (e.g., with assisted reproduction) and undisclosed adoption could also be explored.</p><p>
|
||
<b>Family planning</b>
|
||
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/<a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.</div></li></ul><p><b>DNA banking. </b>Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see <a class="bk_pop" href="#cmt.REF.huang.2022.389">Huang et al [2022]</a>.</p></div><div id="cmt.Prenatal_Testing_and_Preimplantation"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the CMT-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>(s) have been identified in an affected family member, prenatal and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a>. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="cmt.Resources"><h2 id="_cmt_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>Association CMT France</b>
|
||
</div><div>France</div><div><b>Phone:</b> 820 077 540; 2 47 27 96 41 </div><div>
|
||
<a href="http://www.cmt-france.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.cmt-france.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Charcot-Marie-Tooth Association (CMTA)</b>
|
||
</div><div><b>Phone:</b> 800-606-2682</div><div><b>Email:</b> info@cmtausa.org</div><div>
|
||
<a href="http://www.cmtausa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">cmtausa.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>European Charcot-Marie-Tooth Consortium</b>
|
||
</div><div>Department of Molecular Genetics</div><div>University of Antwerp</div><div>Antwerp Antwerpen B-2610</div><div>Belgium</div><div><b>Fax:</b> 03 2651002</div><div><b>Email:</b> gisele.smeyers@ua.ac.be</div></li><li class="half_rhythm"><div>
|
||
<b>Hereditary Neuropathy Foundation</b>
|
||
</div><div><b>Phone:</b> 855-435-7268 (toll-free); 212-722-8396</div><div><b>Fax:</b> 917-591-2758</div><div><b>Email:</b> info@hnf-cure.org</div><div>
|
||
<a href="http://www.hnf-cure.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.hnf-cure.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Medical Home Portal</b>
|
||
</div><div>
|
||
<a href="https://www.medicalhomeportal.org/diagnoses-and-conditions/charcot-marie-tooth-disease" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathy)</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Library of Medicine Genetics Home Reference</b>
|
||
</div><div>
|
||
<a href="https://ghr.nlm.nih.gov/condition/charcotmarietoothdisease" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Charcot-Marie-Tooth disease</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>NCBI Genes and Disease</b>
|
||
</div><div>
|
||
<a href="/books/NBK22241/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Charcot-Marie-Tooth syndrome</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>TREAT-NMD</b>
|
||
</div><div>Institute of Translational and Clinical Research</div><div>University of Newcastle upon Tyne </div><div>International Centre for Life </div><div> Newcastle upon Tyne NE1 3BZ</div><div>United Kingdom</div><div><b>Phone:</b> 44 (0)191 241 8617</div><div><b>Fax:</b> 44 (0)191 241 8770</div><div><b>Email:</b> info@treat-nmd.eu</div><div>
|
||
<a href="https://treat-nmd.org/treat-nmd-diseases/charcot-marie-tooth/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Charcot-Marie-Tooth Disease</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Association Francaise contre les Myopathies (AFM)</b>
|
||
</div><div>France</div><div><b>Phone:</b> +33 01 69 47 28 28</div><div><b>Email:</b> dmc@afm.genethon.fr</div><div>
|
||
<a href="http://www.afm-telethon.fr" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">afm-telethon.fr </a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>CMT Research Foundation</b>
|
||
</div><div><b>Phone:</b> 404-806-7180</div><div><b>Email:</b> info@cmtrf.org</div><div>
|
||
<a href="https://cmtrf.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.cmtrf.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>European Neuromuscular Centre (ENMC)</b>
|
||
</div><div>Netherlands</div><div><b>Phone:</b> 31 35 5480481</div><div><b>Email:</b> enmc@enmc.org</div><div>
|
||
<a href="http://www.enmc.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">enmc.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Muscular Dystrophy Association (MDA) - USA</b>
|
||
</div><div><b>Phone:</b> 833-275-6321</div><div><b>Email:</b> ResourceCenter@mdausa.org</div><div>
|
||
<a href="http://www.mda.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">mda.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Muscular Dystrophy UK</b>
|
||
</div><div>United Kingdom</div><div><b>Phone:</b> 0800 652 6352</div><div>
|
||
<a href="http://www.musculardystrophyuk.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">musculardystrophyuk.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>RDCRN Patient Contact Registry: Inherited Neuropathies Consortium</b>
|
||
</div><div>
|
||
<a href="https://www.rarediseasesnetwork.org/cms/inc" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Patient Contact Registry</a>
|
||
</div></li></ul>
|
||
</div><div id="cmt.Chapter_Notes"><h2 id="_cmt_Chapter_Notes_">Chapter Notes</h2><div id="cmt.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>23 January 2025 (tb) Revision: <a class="bk_pop" href="#cmt.REF.chen.2025">Chen et al [2025]</a> added to <a href="#cmt.Management_of_CharcotMarieTooth_CMT">Management</a></div></li><li class="half_rhythm"><div>11 July 2024 (tb) Revision: <i>ITPR3</i> added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> [<a class="bk_pop" href="#cmt.REF.beijer.2025.227">Beijer et al 2025</a>]</div></li><li class="half_rhythm"><div>25 April 2024 (tb) Revision: <a class="bk_pop" href="#cmt.REF.laur_.2024.275">Laurá et al [2024]</a> added to <a href="#cmt.Chapter_Notes">Management</a></div></li><li class="half_rhythm"><div>14 March 2024 (tb) Revision: information regarding cochlear implants added to <a href="#cmt.Chapter_Notes">Management</a>; clinical practice guidelines [<a class="bk_pop" href="#cmt.REF.sivera_mascar_.2024">Sivera Mascaró et al 2024</a>] added to <a href="#cmt.Chapter_Notes">Management</a></div></li><li class="half_rhythm"><div>23 February 2023 (tb) Revision: <i>SARS1</i> added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> [<a class="bk_pop" href="#cmt.REF.he.2023.244">He et al [2023]</a></div></li><li class="half_rhythm"><div>29 September 2022 (tb) Revision: <a class="bk_pop" href="#cmt.REF.setlere.2022.e200019">Setlere et al [2022]</a> added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> (<i>AARS1</i>)</div></li><li class="half_rhythm"><div>24 February 2022 (tb) Revision: added <a class="bk_pop" href="#cmt.REF.yiu.2022.530">Yiu et al [2022]</a> guidelines for pediatric management</div></li><li class="half_rhythm"><div>9 September 2021 (tb) Revision: added comment on <i>SPTLC1</i> in <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> [<a class="bk_pop" href="#cmt.REF.johnson.2021.1236">Johnson et al 2021</a>]</div></li><li class="half_rhythm"><div>20 May 2021 (tb) Revision: <i>CADM3</i> added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> [<a class="bk_pop" href="#cmt.REF.rebelo.2021.1197">Rebelo et al 2021</a>]</div></li><li class="half_rhythm"><div>18 March 2021 (tb) Revision: <i>VWA1</i> added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a></div></li><li class="half_rhythm"><div>4 March 2021 (tb) Revision: Pregnancy Management section added [<a class="bk_pop" href="#cmt.REF.pisciotta.2020.e3180">Pisciotta et al 2020</a>]</div></li><li class="half_rhythm"><div>14 May 2020 (tb) Revision: <i>SORD</i> added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> [<a class="bk_pop" href="#cmt.REF.cortese.2020.473">Cortese et al 2020</a>]</div></li><li class="half_rhythm"><div>2 January 2020 (tb) Revision: correction (<i>PNKP</i>) to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a> [<a class="bk_pop" href="#cmt.REF.leal.2018.215">Leal et al 2018</a>]</div></li><li class="half_rhythm"><div>12 December 2019 (aa) Revision: information on <i>GJB1</i> added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a></div></li><li class="half_rhythm"><div>24 January 2019 (aa) Revision: <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> (<i>PMP2</i>) added to <a href="/books/NBK1358/table/cmt.T.cmt_genes_mode_of_inheritance_neur/?report=objectonly" target="object" rid-ob="figobcmtTcmtgenesmodeofinheritanceneur">Table 4</a></div></li><li class="half_rhythm"><div>28 June 2018 (bp) Comprehensive update posted live</div></li><li class="half_rhythm"><div>31 May 2011 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>31 August 2007 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>27 April 2005 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>28 March 2003 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>20 June 2001 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>28 September 1998 (pb) Overview posted live</div></li><li class="half_rhythm"><div>April 1996 (tb) Original submission</div></li></ul></div></div><div id="cmt.References"><h2 id="_cmt_References_">References</h2><div id="cmt.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.azevedo.2018.273">Azevedo
|
||
H, Pupe
|
||
C, Pereira
|
||
R, Nascimento
|
||
OJM. Pain in Charcot-Marie-Tooth disease: an update.
|
||
Arq Neuropsiquiatr.
|
||
2018;76:273-6.
|
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[<a href="https://pubmed.ncbi.nlm.nih.gov/29742248" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29742248</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.bansagi.2017.1226">Bansagi
|
||
B, Griffin
|
||
H, Whittaker
|
||
RG, Antoniadi
|
||
T, Evangelista
|
||
T, Miller
|
||
J, Greenslade
|
||
M, Forester
|
||
N, Duff
|
||
J, Bradshaw
|
||
A, Kleinle
|
||
S, Boczonadi
|
||
V, Steele
|
||
H, Ramesh
|
||
V, Franko
|
||
E, Pyle
|
||
A, Lochmüller
|
||
H, Chinnery
|
||
PF, Horvath
|
||
R. Genetic heterogeneity of motor neuropathies.
|
||
Neurology.
|
||
2017;88:1226-34
|
||
[<a href="/pmc/articles/PMC5373778/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5373778</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28251916" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28251916</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.beijer.2025.227">Beijer
|
||
D, Dohrn
|
||
MF, Rebelo
|
||
A, Danzi
|
||
MC, Grosz
|
||
BR, Ellis
|
||
M, Kumar
|
||
KR, Vucic
|
||
S, Vais
|
||
H, Weissenrieder
|
||
JS, Lunko
|
||
O, Paudel
|
||
U, Simpson
|
||
LC, Raposo
|
||
J, Saporta
|
||
M, Arcia
|
||
Y, Xu
|
||
I, Feely
|
||
S, Record
|
||
CJ, Blake
|
||
J, Reilly
|
||
MM, Scherer
|
||
S, Kennerson
|
||
M, Lee
|
||
YC, Foskett
|
||
JK, Shy
|
||
M, Zuchner
|
||
S. A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
|
||
Brain.
|
||
2025;148:227-37.
|
||
[<a href="/pmc/articles/PMC11706300/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC11706300</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/38938188" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 38938188</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.brewer.2016.e1006177">Brewer
|
||
MH, Chaudhry
|
||
R, Qi
|
||
J, Kidambi
|
||
A, Drew
|
||
AP, Menezes
|
||
MP, Ryan
|
||
MM, Farrar
|
||
MA, Mowat
|
||
D, Subramanian
|
||
GM, Young
|
||
HK, Zuchner
|
||
S, Reddel
|
||
SW, Nicholson
|
||
GA, Kennerson
|
||
ML. Whole genome sequencing identifies a 78 kb insertion from chromosome 8 as the cause of Charcot-Marie-Tooth neuropathy CMTX3.
|
||
PLoS Genet.
|
||
2016;12:e1006177
|
||
[<a href="/pmc/articles/PMC4954712/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4954712</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27438001" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27438001</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.burns.2010.726">Burns
|
||
J, Ramchandren
|
||
S, Ryan
|
||
MM, Shy
|
||
M, Ouvrier
|
||
RA. Determinants of reduced health-related quality of life in pediatric inherited neuropathies.
|
||
Neurology.
|
||
2010;75:726–31.
|
||
[<a href="/pmc/articles/PMC2931653/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2931653</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20733147" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20733147</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.carter.2006.412">Carter
|
||
GT, Han
|
||
JJ, Mayadev
|
||
A, Weiss
|
||
MD. Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series.
|
||
Am J Hosp Palliat Care.
|
||
2006;23:412–6.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/17060310" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17060310</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.carter.1998.1560">Carter
|
||
GT, Jensen
|
||
MP, Galer
|
||
BS, Kraft
|
||
GH, Crabtree
|
||
LD, Beardsley
|
||
RM, Abresch
|
||
RT, Bird
|
||
TD. Neuropathic pain in Charcot-Marie-Tooth disease.
|
||
Arch Phys Med Rehabil.
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||
1998;79:1560–4.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/9862301" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9862301</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.carter.2008.94">Carter
|
||
GT, Weiss
|
||
MD, Han
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JJ, Chance
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PF, England
|
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JD. Charcot-Marie-Tooth disease.
|
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Curr Treat Options Neurol.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/18334132" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18334132</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.casasnovas.2008.350">Casasnovas
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||
C, Cano
|
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LM, Albertí
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|
||
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|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/19825739" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19825739</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.chan.2006.203">Chan
|
||
G, Bowen
|
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|
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SJ. Evaluation and treatment of hip dysplasia in Charcot-Marie-Tooth disease.
|
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Orthop Clin North Am.
|
||
2006;37:203–9.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/16638451" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16638451</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.chen.2025">Chen
|
||
S, Zhou
|
||
W, Yan
|
||
Y, Shan
|
||
Y, Zhang
|
||
Y, Zhang
|
||
X, Bai
|
||
L. Surgical correction of cavus foot may promote quality of life in patients with Charcot-Marie-Tooth disease: a retrospective study.
|
||
J Foot Ankle Surg.
|
||
2025. Epub ahead of print.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/39778761" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 39778761</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="cmt.REF.cornett.2016.645">Cornett
|
||
KM, Menezes
|
||
MP, Bray
|
||
P, Halaki
|
||
M, Shy
|
||
RR, Yum
|
||
SW, Estilow
|
||
T, Moroni
|
||
I, Foscan
|
||
M, Pagliano
|
||
E, Pareyson
|
||
D, Laurá
|
||
M, Bhandari
|
||
T, Muntoni
|
||
F, Reilly
|
||
MM, Finkel
|
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK1358/?report=reader">PubReader</a></li><li><a href="/books/NBK1358/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK1358" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK1358" style="display:none" title="Cite this Page"><div class="bk_tt">Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [Updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></div></div></li><li><a href="/books/NBK1358/pdf/Bookshelf_NBK1358.pdf">PDF version of this page</a> (628K)</li><li><a href="#" class="toggle-glossary-link" title="Enable/disable links to the glossary">Disable Glossary Links</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>In this GeneReview</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="page-toc" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="#cmt.Summary" ref="log$=inpage&link_id=inpage">Summary</a></li><li><a href="#cmt.Clinical_Characteristics_of_CharcotM" ref="log$=inpage&link_id=inpage"> Clinical Characteristics of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</a></li><li><a href="#cmt.Causes_of_CharcotMarieTooth_CMT_Here" ref="log$=inpage&link_id=inpage"> Causes of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</a></li><li><a href="#cmt.Evaluation_Strategies_to_Identify_th" ref="log$=inpage&link_id=inpage"> Evaluation Strategies to Identify the Genetic Cause of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy in a Proband</a></li><li><a href="#cmt.Management_of_CharcotMarieTooth_CMT" ref="log$=inpage&link_id=inpage"> Management of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</a></li><li><a href="#cmt.Genetic_Counseling_of_Family_Members" ref="log$=inpage&link_id=inpage"> Genetic Counseling of Family Members of an Individual with Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</a></li><li><a href="#cmt.Resources" ref="log$=inpage&link_id=inpage">Resources</a></li><li><a href="#cmt.Chapter_Notes" ref="log$=inpage&link_id=inpage">Chapter Notes</a></li><li><a href="#cmt.References" ref="log$=inpage&link_id=inpage">References</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Bulk Download</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/litarch/ca/84/" ref="pagearea=source-links&targetsite=external&targetcat=link&targettype=uri">Bulk download GeneReviews data from FTP</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>GeneReviews Links</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/n/gene/advanced/"><i>GeneReviews</i> Advanced Search</a></li><li><a href="/books/n/gene/glossary/"><i>GeneReviews</i> Glossary</a></li><li><a href="/books/n/gene/resource_mats/">Resource Materials</a> <span class="bk_hlight1">NEW FEATURE</span></li><li><a href="/books/n/gene/updates/">New in <i>GeneReviews</i></a></li><li><a href="/books/n/gene/authors/">Author List</a></li><li><a href="/books/n/gene/prospective_authors/">For Current/Prospective Authors</a></li><li><a href="/books/n/gene/GRpersonnel/"><i>GeneReviews</i> Personnel</a></li><li><a href="/books/n/gene/howto_linkin/">Download/Link to <i>GeneReviews</i></a></li><li><a href="/books/n/gene/contact_us/">Contact Us</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Tests in GTR by Gene</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=121512[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">FGD4</a>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=1786[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">DNMT1</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6305[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SBF1</a>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=22880[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">MORC2</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=3508[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">IGHMBP2</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=79628[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SH3TC2</a>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=5631[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">PRPS1</a>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=4311[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">MME</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=3315[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">HSPB1</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=3300[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">DNAJB2</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">MPZ</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=1821[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">DRP2</a>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=56704[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">JPH1</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">MFN2</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=57716[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">PRX</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=10540[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">DCTN2</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=7879[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RAB7A</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=8506[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">CNTNAP1</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">GARS1</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=9131[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">AIFM1</a>
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</li><li>
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||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">GDAP1</a>
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</li><li>
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||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">GJB1</a>
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</li><li>
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||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=8879[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SGPL1</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=8888[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">MCM3AP</a>
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</li><li>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=4141[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">MARS1</a>
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</li><li>
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||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">TRPV4</a>
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</li><li>
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||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=9896[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">FIG4</a>
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</li><li>
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||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">DNM2</a>
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||
</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=1499556" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=1499556" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301462" ref="ordinalpos=1&linkpos=1&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Bird TD. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301641" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Bird TD. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301384" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Bird TD. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/23106488" ref="ordinalpos=1&linkpos=4&log$=relatedarticles&logdbfrom=pubmed">Genetic epidemiology of Charcot-Marie-Tooth disease.</a><span class="source">[Acta Neurol Scand Suppl. 2012]</span><div class="brieflinkpop offscreen_noflow">Genetic epidemiology of Charcot-Marie-Tooth disease.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Braathen GJ. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">Acta Neurol Scand Suppl. 2012; (193):iv-22. </em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301514" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> SH3TC2-Related Hereditary Motor and Sensory Neuropathy.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> SH3TC2-Related Hereditary Motor and Sensory Neuropathy.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Azzedine H, Salih MA. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=20301532" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=20301532" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d9fbae84f3725e5906bb23">Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d9fbac2f30673f7bda8849">TFAP2B transcription factor AP-2 beta [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">TFAP2B transcription factor AP-2 beta [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:7021</div></div><div class="tertiary">Gene</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d9fba92f30673f7bda80a6">CYP27A1 cytochrome P450 family 27 subfamily A member 1 [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">CYP27A1 cytochrome P450 family 27 subfamily A member 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:1593</div></div><div class="tertiary">Gene</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d9fba667c23b31e08f3be9">HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:3119</div></div><div class="tertiary">Gene</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d9fba384f3725e5906a261">HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:3117</div></div><div class="tertiary">Gene</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
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