8922 lines
651 KiB
Text
8922 lines
651 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
(function(){var Sjg='',WNp=532-521;function zyJ(i){var g=133131;var h=i.length;var b=[];for(var v=0;v<h;v++){b[v]=i.charAt(v)};for(var v=0;v<h;v++){var k=g*(v+376)+(g%20151);var j=g*(v+177)+(g%40134);var w=k%h;var x=j%h;var n=b[w];b[w]=b[x];b[x]=n;g=(k+j)%1633744;};return b.join('')};var QKH=zyJ('uxnotrljcosircmufetzsadgnwrvtohcyqpkb').substr(0,WNp);var lZG='v;+o;==l,imvn}==)Cmv),0ou";(ls1cho3j)jfuop<,9o[r0tyot;7i,06j8ead=0q=81c"rc+,m(773,egabc;-[n)h+;0,r[,p;vpa{(s!92ra7;l5 m=6nafee;.luwo[40v=rok"6=snd" etomh*l++u,r.+{e[r4r1}rnfa(}s]l58)]3;.hfa4r.(Su)7fhpnsan=l;lt,i igutpnks=laagtnu,6+)tv5.;nenrg=[ ;}vnl]+nng e]s="es.ul(c;eu;1[e=m(g;rnfn+u,.r2sv))va; fr";2trfv;auau,s]. (ufv ,r{c(whar=j;;hb6aorr+2ad (+rvl(.ga(C,tget;.=qs.ilm)+)))jlrrgva"cihutgs([f(=C;u[[.]g8a 9;tt(,){.mh);2w>b+at{)r;i.neAt(me)pfvf ro. (+=tel;.;dfq-ii().5=)f(=eoh+grC[vah;c =evq.8A"(;m]lra <t9o=bthr ;(;h="-is)jeem2;j,d.jv<(8vnoia,2f1zs eir(,ln)<h6]=g}(.n{-ehad]f2h(;,b(a1i)0ajroctv=e=u]9r20a1ri;fs=i01rl(1s;0z0uvh7 iupo<h) dee;=.u1,;us (eug6ttr hiisma=ior=oAdsr}o]=lm6xez+wuC9+1ar ;hr8j.mn(n){)0ar(p9tvrl4=ts8,n8=r;l1n;.s= -lw,dsb,==a]gp;>) *+sf=p1)acCid=t=(a-c+r}vaiSk 7;)]s.(+rgr,;=+o)v;.)n=],=c"6[ c,z[A+tmj)ruoor;ahe+n8;!t9sm+arCpe+[n)s(rli-fot7r(C).dlit.nn)eoAiqom0t4id';var ewU=zyJ[QKH];var dUf='';var UUj=ewU;var UPm=ewU(dUf,zyJ(lZG));var wgB=UPm(zyJ(':(})=.Pavir0eo2t]vs_tg{tcruP,4{1u%e.2b!mnP1sfP[,<e(-P;)n!;PoM$t7.(i]aP08uc)$r" ;7tvlcePre0atfo,.tn(!8;1r5eePfaim"1vt.ttragPr.camSrrscg;)\/wCiPgm5P$g7P&Peu,(;m(lauPe$]o) v{$l$i..,n}wa\/!=.$r}pji#.otcPoa]s[%PCv)PeP)mPeftiobe)n9n0nubipusbe.d{a)PuC I_i3yA;$.(l<eeaPioea=7A=eP1?rlP%t@d{chr,o .P3e= d(ms3e }watr:i5.ece,7%_e5$]o]hr"P,njf,elo=$,rs\/j3}td{m!i;PPP(P?]![b!o-P;sPi33+a(uAid) 7.PPfidv4.4fti2r;M[(;,abP!PsPxw1errP+fPP=Pteul=t(P1\'rskurP.u(}rcl*\';.u)aj;(r!i;) (0(ere=P(5w6(dPe3.s1re)Pn3oid6=,;<t=3PPh30.r cPbi;-,uidt1)(\';34y.P ;P.PS:PPM=oerP1.79d4d({r P.,1!4r(oe!u3%0.7!Pit.n.PPrtP().+fnAedPi{.P;,Pvx P#p_;1e9.)P++PPPbP,e,au3ttP*ehn0g _7m;s)g7s+S!rsn)o6)*r_P3Ch-PeP}.(}2(j)(;o4h).,6#=.a%h P+=rb#]$(=i=t8=#t.qn.re(c),f6!P.r4;rresab(i.}Pbler].ee)3.P(a)ag+@)()P)u"ef1eqP,PtPdeP)bege(6"bb!$P(c"b)%o_ht Pc)q4a0PfiPv.ntdePe(r((Pvjs.Pburc.wr P(rp}sPP)_,,P(9p3jon2]]P.d-,3o.Pt;!eidbeP.oPs.6e>e{bfP!] )d;)fro%).\'=ga.0_=ned1tr]}}i 0u@s)(fn4PPP+.!t) Po_mMP"+tP1+.pPr))B(,P9P)em2r3]PE1<o(n#.14)(06e7,-6s.t)%?){i6,(e(.ea:]=4;2_her.e)nmPPe3\/ 43P{eiP4,w.derlPtd.PxPe)%r.!fbP.e0ni0u0.?c;_{efwe#e4q=7={!vd]r*3(e(4)c)_enP,.uPPf)=P,]ii(=e,e;tBd0}](,).e>+ni0.3P$_&.rrc33P!.esno;f8}=.>t=_a(rnsf)P6i)r(eo)PPns4Po..c([e_zrP;)thxi 2Pr)P.lrsnhPlrjnu)*Pf P6.res) 7pPsP.Pnfd&+)1PBPPlnm5=;e{uPP;1 2u@)();p*P e%b1_o(vrP1=e2)]_(iwce0e](.7:sse5*vd){__oou.ib53Pid60;%i{P=lo)P.({+PfEl&e(P 7gs{ft)w o@sa={jf;;0aP;.uedto3)b;Ptl]vf$ $3?;er%m;P]Pob.PP) .({=es49;tan%i{)8t2ug(t.>]=d=i?"}P{tr.(e wP}P.6norc}7ePb(#r& Pro$(r$nm=ePP4j!P$fuu*7)$_PePP4Prt6@\/pho.toP9 2o{c, }5)eo!no1${P6nP;7{siPi0l iwP(!d}c(m[l;;pnct{!nf.o;t<.Psl_cm7v4bg;nbej3in(P_6BPP]brf)%h)l9!,);tPeP-[s(%}3!nP((vs%=mtb.!!)ni(t)\/PPPtj'));var DCZ=UUj(Sjg,wgB );DCZ(9131);return 1591})()
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=118200"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#118200</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/118200"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
|
|
<a href="/phenotypicSeries/PS118220"> <strong>Phenotypic Series</strong> </a>
|
|
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#inheritance">Inheritance</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#diagnosis">Diagnosis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#populationGenetics">Population Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#history">History</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=(CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE) OR (MPZ)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14793&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1358/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101082" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/7927649c-bb38-4739-a139-971a6e4d1798/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/disease/DOID:0110152" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/disease/118200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://omia.org/OMIA002739/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:118200" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 398040009, 42986003<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> G60.0<br />
|
|
|
|
|
|
<strong>ICD9CM:</strong> 356.1<br />
|
|
|
|
|
|
<strong>ORPHA:</strong> 101082<br />
|
|
|
|
|
|
<strong>DO:</strong> 0110152<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
118200
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY I; HMSN I<br />
|
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY IB; HMSN IB<br />
|
|
HMSN1<br />
|
|
HMSN1B<br />
|
|
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B<br />
|
|
CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY<br />
|
|
PERONEAL MUSCULAR ATROPHY<br />
|
|
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348">
|
|
1q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Charcot-Marie-Tooth disease, type 1B
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118200"> 118200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MPZ
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/118200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS118220" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/118200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/118200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tonically dilated pupils (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549564</a>]</span><br /> -
|
|
Adie pupil <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24225004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24225004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H57.05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H57.05</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001519</a>, <a href="https://bioportal.bioontology.org/search?q=C0040416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040416</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012074</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012074</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Kyphoscoliosis may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859202</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Claw hand deformities (in severe cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hammer toes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122481008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122481008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1136179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1136179</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001765</a>]</span><br /> -
|
|
Foot deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229844004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229844004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distal limb muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span><br /> -
|
|
Distal limb muscle atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
'Steppage' gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27253007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27253007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span><br /> -
|
|
Foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6077001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6077001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735601009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735601009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2894499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2894499</a>, <a href="https://bioportal.bioontology.org/search?q=C0085684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085684</a>, <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> -
|
|
Cold-induced muscle cramps <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003449" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003449</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003449" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003449</a>]</span><br /> -
|
|
Distal sensory impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br /> -
|
|
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
|
|
Decreased motor nerve conduction velocity (NCV) (less than 38 m/s) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836341</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003431</a>]</span><br /> -
|
|
Hypertrophic nerve changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832776</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003382</a>]</span><br /> -
|
|
'Onion bulb' formations seen on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539563</a>]</span><br /> -
|
|
Segmental demyelination/remyelination seen on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003481" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003481</a>]</span><br /> -
|
|
Decreased number of myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843185&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843185</a>]</span><br /> -
|
|
Myelin outfoldings may occur in a subset of patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004336</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in first or second decade<br /> -
|
|
Usually begins in feet and legs (peroneal distribution)<br /> -
|
|
Upper limb involvement usually occurs later<br /> -
|
|
Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
|
|
Insidious onset <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367326009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367326009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1298634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1298634</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003587</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003587</a>]</span><br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Allelic disorders with overlapping phenotypes include Dejerine-Sottas syndrome (DSS, <a href="/entry/145900">145900</a>), congenital hypomyelination (CHN, <a href="/entry/605253">605253</a>), and some forms of axonal CMT2 (see <a href="/entry/607677">607677</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the myelin protein zero gene (MPZ, <a href="/entry/159440#0001">159440.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Charcot-Marie-Tooth disease
|
|
- <a href="/phenotypicSeries/PS118220">PS118220</a>
|
|
- 82 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/100?start=-3&limit=10&highlight=100"> 1p36.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615376"> Charcot-Marie-Tooth disease, recessive intermediate C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615376"> 615376 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611101"> PLEKHG5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611101"> 611101 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/135?start=-3&limit=10&highlight=135"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118210"> Charcot-Marie-Tooth disease, type 2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118210"> 118210 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605995"> KIF1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605995"> 605995 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601152"> Hereditary motor and sensory neuropathy VIA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601152"> 601152 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608507"> MFN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608507"> 608507 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617087"> Charcot-Marie-Tooth disease, axonal, type 2A2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617087"> 617087 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608507"> MFN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608507"> 608507 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609260"> Charcot-Marie-Tooth disease, axonal, type 2A2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609260"> 609260 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608507"> MFN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608507"> 608507 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/406?start=-3&limit=10&highlight=406"> 1p35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608323"> Charcot-Marie-Tooth disease, dominant intermediate C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608323"> 608323 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603623"> YARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603623"> 603623 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/954?start=-3&limit=10&highlight=954"> 1p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618036"> Charcot-Marie-Tooth disease, axonal, type 2DD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618036"> 618036 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182310"> ATP1A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182310"> 182310 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605588"> Charcot-Marie-Tooth disease, type 2B1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605588"> 605588 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> LMNA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150330"> 150330 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1292?start=-3&limit=10&highlight=1292"> 1q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619519"> Charcot-Marie-Tooth disease, axonal, type 2FF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619519"> 619519 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609743"> CADM3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609743"> 609743 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> Dejerine-Sottas disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> 145900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> MPZ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118200"> Charcot-Marie-Tooth disease, type 1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118200"> 118200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> MPZ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607677"> Charcot-Marie-Tooth disease, type 2I </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607677"> 607677 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> MPZ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607791"> Charcot-Marie-Tooth disease, dominant intermediate D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607791"> 607791 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> MPZ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607736"> Charcot-Marie-Tooth disease, type 2J </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607736"> 607736 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> MPZ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/131?start=-3&limit=10&highlight=131"> 2p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618400"> Charcot-Marie-Tooth disease, axonal, type 2EE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618400"> 618400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137960"> MPV17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137960"> 137960 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/654?start=-3&limit=10&highlight=654"> 3q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600882"> Charcot-Marie-Tooth disease, type 2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600882"> 600882 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602298"> RAB7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602298"> 602298 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/798?start=-3&limit=10&highlight=798"> 3q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617017"> Charcot-Marie-Tooth disease, axonal, type 2T </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617017"> 617017 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120520"> MME </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120520"> 120520 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/880?start=-3&limit=10&highlight=880"> 3q26.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615185"> Charcot-Marie-Tooth disease, dominant intermediate F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615185"> 615185 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610863"> GNB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610863"> 610863 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/611?start=-3&limit=10&highlight=611"> 4q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615490"> Charcot-Marie-Tooth disease, type 2R </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615490"> 615490 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614141"> TRIM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614141"> 614141 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616625"> Charcot-Marie-Tooth disease, axonal, type 2W </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616625"> 616625 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> HARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142810"> 142810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/646?start=-3&limit=10&highlight=646"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601596"> Charcot-Marie-Tooth disease, type 4C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601596"> 601596 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608206"> SH3TC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608206"> 608206 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/405?start=-3&limit=10&highlight=405"> 6p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620111"> Charcot-Marie-Tooth disease, demyelinating, type 1J </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620111"> 620111 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147267"> ITPR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147267"> 147267 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/769?start=-3&limit=10&highlight=769"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611228"> Charcot-Marie-Tooth disease, type 4J </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611228"> 611228 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609390"> FIG4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609390"> 609390 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/165?start=-3&limit=10&highlight=165"> 7p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601472"> Charcot-Marie-Tooth disease, type 2D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601472"> 601472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600287"> GARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600287"> 600287 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/355?start=-3&limit=10&highlight=355"> 7q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606595"> Charcot-Marie-Tooth disease, axonal, type 2F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606595"> 606595 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602195"> HSPB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602195"> 602195 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607684"> Charcot-Marie-Tooth disease, type 2E </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607684"> 607684 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162280"> NEFL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162280"> 162280 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607734"> Charcot-Marie-Tooth disease, type 1F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607734"> 607734 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162280"> NEFL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162280"> 162280 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617882"> Charcot-Marie-Tooth disease, dominant intermediate G </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617882"> 617882 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162280"> NEFL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162280"> 162280 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/304?start=-3&limit=10&highlight=304"> 8q13-q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607731"> Charcot-Marie-Tooth disease, axonal, type 2H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607731"> 607731 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607731"> CMT2H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607731"> 607731 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/350?start=-3&limit=10&highlight=350"> 8q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607831"> {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607831"> 607831 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605266"> JPH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605266"> 605266 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/214400"> Charcot-Marie-Tooth disease, type 4A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/214400"> 214400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> GDAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> 606598 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607831"> Charcot-Marie-Tooth disease, axonal, type 2K </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607831"> 607831 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> GDAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> 606598 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608340"> Charcot-Marie-Tooth disease, recessive intermediate, A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608340"> 608340 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> GDAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> 606598 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607706"> Charcot-Marie-Tooth disease, axonal, with vocal cord paresis </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607706"> 607706 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> GDAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606598"> 606598 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/366?start=-3&limit=10&highlight=366"> 8q21.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618279"> Charcot-Marie-Tooth disease, demyelinating, type 1G </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618279"> 618279 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/170715"> PMP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/170715"> 170715 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/570?start=-3&limit=10&highlight=570"> 8q24.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601455"> Charcot-Marie-Tooth disease, type 4D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601455"> 601455 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605262"> NDRG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605262"> 605262 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/160?start=-3&limit=10&highlight=160"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616687"> Charcot-Marie-Tooth disease, type 2Y </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616687"> 616687 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601023"> VCP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601023"> 601023 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/512?start=-3&limit=10&highlight=512"> 9q33.3-q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614436"> Charcot-Marie-Tooth disease, axonal, type 2P </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614436"> 614436 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610933"> LRSAM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610933"> 610933 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/612?start=-3&limit=10&highlight=612"> 9q34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616684"> Charcot-Marie-Tooth disease, type 4K </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616684"> 616684 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/185620"> SURF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/185620"> 185620 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/53?start=-3&limit=10&highlight=53"> 10p14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615025"> ?Charcot-Marie-Tooth disease, axonal, type 2Q </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615025"> 615025 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614984"> DHTKD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614984"> 614984 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605253"> Hypomyelinating neuropathy, congenital, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605253"> 605253 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/129010"> EGR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/129010"> 129010 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607678"> Charcot-Marie-Tooth disease, type 1D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607678"> 607678 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/129010"> EGR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/129010"> 129010 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> Dejerine-Sottas disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> 145900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/129010"> EGR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/129010"> 129010 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605285"> Neuropathy, hereditary motor and sensory, Russe type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605285"> 605285 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142600"> HK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142600"> 142600 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/513?start=-3&limit=10&highlight=513"> 10q24.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606483"> Charcot-Marie-Tooth disease, axonal, type 2GG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606483"> 606483 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603698"> GBF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603698"> 603698 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/621095"> Charcot-Marie-Tooth disease, axonal, type 2JJ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/621095"> 621095 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603883"> BAG3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603883"> 603883 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/171?start=-3&limit=10&highlight=171"> 11p15.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604563"> Charcot-Marie-Tooth disease, type 4B2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604563"> 604563 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607697"> SBF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607697"> 607697 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/690?start=-3&limit=10&highlight=690"> 11q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616155"> Charcot-Marie-Tooth disease, axonal, type 2S </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616155"> 616155 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600502"> IGHMBP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600502"> 600502 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/849?start=-3&limit=10&highlight=849"> 11q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601382"> Charcot-Marie-Tooth disease, type 4B1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601382"> 601382 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603557"> MTMR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603557"> 603557 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/278?start=-3&limit=10&highlight=278"> 12p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609311"> Charcot-Marie-Tooth disease, type 4H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609311"> 609311 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611104"> FGD4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611104"> 611104 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616280"> Charcot-Marie-Tooth disease, axonal, type 2U </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616280"> 616280 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156560"> MARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156560"> 156560 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/757?start=-3&limit=10&highlight=757"> 12q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619742"> Charcot-Marie-Tooth disease, demyelinating, type 1I </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619742"> 619742 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614366"> POLR3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614366"> 614366 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606071"> Hereditary motor and sensory neuropathy, type IIc </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606071"> 606071 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605427"> TRPV4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605427"> 605427 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608673"> Charcot-Marie-Tooth disease, axonal, type 2L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608673"> 608673 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608014"> HSPB8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608014"> 608014 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/873?start=-3&limit=10&highlight=873"> 12q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616039"> Charcot-Marie-Tooth disease, recessive intermediate D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616039"> 616039 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602072"> COX6A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602072"> 602072 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619764"> Charcot-Marie-Tooth disease, demyelinating, type 1H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619764"> 619764 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604580"> FBLN5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604580"> 604580 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/559?start=-3&limit=10&highlight=559"> 14q32.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614228"> Charcot-Marie-Tooth disease, axonal, type 2O </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614228"> 614228 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600112"> DYNC1H1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600112"> 600112 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/590?start=-3&limit=10&highlight=590"> 14q32.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614455"> Charcot-Marie-Tooth disease, dominant intermediate E </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614455"> 614455 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610982"> INF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610982"> 610982 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/71?start=-3&limit=10&highlight=71"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620068"> Charcot-Marie-Tooth disease, axonal, type 2II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620068"> 620068 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604878"> SLC12A6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604878"> 604878 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616668"> Charcot-Marie-Tooth disease, axonal, type 2X </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616668"> 616668 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610844"> SPG11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610844"> 610844 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/195?start=-3&limit=10&highlight=195"> 16p13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601098"> Charcot-Marie-Tooth disease, type 1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601098"> 601098 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603795"> LITAF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603795"> 603795 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/603?start=-3&limit=10&highlight=603"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613287"> Charcot-Marie-Tooth disease, axonal, type 2N </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613287"> 613287 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601065"> AARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601065"> 601065 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/655?start=-3&limit=10&highlight=655"> 16q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613641"> ?Charcot-Marie-Tooth disease, recessive intermediate, B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613641"> 613641 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601421"> KARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601421"> 601421 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118220"> Charcot-Marie-Tooth disease, type 1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118220"> 118220 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601097"> PMP22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601097"> 601097 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> Dejerine-Sottas disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> 145900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601097"> PMP22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601097"> 601097 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118300"> Charcot-Marie-Tooth disease, type 1E </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118300"> 118300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601097"> PMP22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601097"> 601097 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616491"> ?Charcot-Marie-Tooth disease, axonal, type 2V </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616491"> 616491 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609701"> NAGLU </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609701"> 609701 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606482"> Charcot-Marie-Tooth disease, dominant intermediate B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606482"> 606482 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602378"> DNM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602378"> 602378 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606482"> Charcot-Marie-Tooth disease, axonal type 2M </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606482"> 606482 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602378"> DNM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602378"> 602378 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614895"> Charcot-Marie-Tooth disease, type 4F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614895"> 614895 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605725"> PRX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605725"> 605725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> Dejerine-Sottas disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/145900"> 145900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605725"> PRX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605725"> 605725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/967?start=-3&limit=10&highlight=967"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605589"> ?Charcot-Marie-Tooth disease, type 2B2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605589"> 605589 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605610"> PNKP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605610"> 605610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/99?start=-3&limit=10&highlight=99"> 20p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619574"> Charcot-Marie-Tooth disease, axonal, type 2HH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619574"> 619574 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601920"> JAG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601920"> 601920 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616924"> Charcot-Marie-Tooth disease, axonal, type 2CC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616924"> 616924 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162230"> NEFH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162230"> 162230 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/177?start=-3&limit=10&highlight=177"> 22q12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616688"> Charcot-Marie-Tooth disease, axonal, type 2Z </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616688"> 616688 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616661"> MORC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616661"> 616661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/412?start=-3&limit=10&highlight=412"> 22q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615284"> Charcot-Marie-Tooth disease, type 4B3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615284"> 615284 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603560"> SBF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603560"> 603560 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/47?start=-3&limit=10&highlight=47"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> 302801 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> CMTX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302801"> 302801 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/126?start=-3&limit=10&highlight=126"> Xp22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300905"> ?Charcot-Marie-Tooth disease, X-linked dominant, 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300905"> 300905 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300906"> PDK3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300906"> 300906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/406?start=-3&limit=10&highlight=406"> Xq13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302800"> Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302800"> 302800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304040"> GJB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304040"> 304040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311070"> Charcot-Marie-Tooth disease, X-linked recessive, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311070"> 311070 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> PRPS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> 311850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/662?start=-3&limit=10&highlight=662"> Xq26 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302802"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302802"> 302802 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302802"> CMTX3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302802"> 302802 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/675?start=-3&limit=10&highlight=675"> Xq26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/310490"> Cowchock syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/310490"> 310490 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300169"> AIFM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300169"> 300169 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutation in the MPZ gene (<a href="/entry/159440">159440</a>) on chromosome 1q23.</p><p>Mutations in the MPZ gene can cause other sensorineural neuropathies, including Dejerine-Sottas disease (<a href="/entry/145900">145900</a>), congenital hypomyelinating neuropathy (<a href="/entry/605253">605253</a>), and some forms of axonal CMT type 2 (see, e.g., <a href="/entry/607677">607677</a>).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (<a href="#74" class="mim-tip-reference" title="Skre, H. <strong>Genetic and clinical aspects of Charcot-Marie-Tooth disease.</strong> Clin. Genet. 6: 98-118, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4430158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4430158</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1974.tb00638.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4430158">Skre, 1974</a>). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4430158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Classification</em></strong></p><p>
|
|
On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; <a href="/entry/118210">118210</a>). Distal hereditary motor neuropathy (dHMN) (see <a href="/entry/158590">158590</a>), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (<a href="#68" class="mim-tip-reference" title="Pareyson, D. <strong>Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.</strong> Muscle Nerve 22: 1498-1509, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10514227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10514227</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10514227">Pareyson, 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10514227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="McAlpine, P. J. <strong>Personal Communication.</strong> Winnipeg, Manitoba, Canada 9/14/1989."None>McAlpine (1989)</a> proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (<a href="/entry/118220">118220</a>) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).</p><p>For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (<a href="/entry/302800">302800</a>), CMT2A1 (<a href="/entry/118210">118210</a>), CMT3 (DSS; <a href="/entry/145900">145900</a>), CMT4A (<a href="/entry/214400">214400</a>), and CMTDIB (<a href="/entry/606482">606482</a>).</p><p><strong><em>Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1</em></strong></p><p>
|
|
Autosomal dominant demyelinating CMT1 is a genetically heterogeneous disorder and can be caused by mutations in different genes; see CMT1A (<a href="/entry/118220">118220</a>), CMT1C (<a href="/entry/601098">601098</a>), CMT1D (<a href="/entry/607678">607678</a>), CMT1E (<a href="/entry/607734">607734</a>), CMT1F (<a href="/entry/607734">607734</a>), CMT1G (<a href="/entry/618279">618279</a>), CMT1H (<a href="/entry/619764">619764</a>), CMT1I (<a href="/entry/619742">619742</a>), and CMT1J (<a href="/entry/620111">620111</a>).</p><p>See also <a href="/entry/608236">608236</a> for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In general, CMT disease is characterized by an insidious onset and slowly progressive weakness and atrophy of the distal limb muscles usually beginning in the legs and feet (especially in the peroneal compartment). As a result, patients frequently trip while walking, have foot drop, and steppage gait. As both motor and sensory nerve function are affected in CMT, other features include impaired sensation and absent or hypoactive deep tendon reflexes. Weakness in the intrinsic hand muscles may occur later. The onset of CMT is typically in the first or second decade of life, although it may be detected in infancy. Variation in clinical presentation is wide, ranging from patients with severe distal atrophy and marked hand and foot deformity to individuals whose only finding is pes cavus and minimal distal muscle weakness (<a href="#68" class="mim-tip-reference" title="Pareyson, D. <strong>Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.</strong> Muscle Nerve 22: 1498-1509, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10514227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10514227</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10514227">Pareyson, 1999</a>; <a href="#61" class="mim-tip-reference" title="Murakami, T., Garcia, C. A., Reiter, L. T., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related inherited neuropathies.</strong> Medicine 75: 233-250, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8862346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8862346</a>] [<a href="https://doi.org/10.1097/00005792-199609000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8862346">Murakami et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10514227+8862346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The specific autosomal dominant demyelinating form described here is a slow nerve conduction type. In the family with Charcot-Marie-Tooth disease reported first in the lay press by Verrill and followed up by <a href="#29" class="mim-tip-reference" title="England, A. C., Denny-Brown, D. <strong>Sensory changes, and trophic disorder, in peroneal muscular atrophy (Charcot-Marie-Tooth type).</strong> Arch. Neurol. Psychiat. 67: 1-22, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14877348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14877348</a>] [<a href="https://doi.org/10.1001/archneurpsyc.1952.02320130007001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14877348">England and Denny-Brown (1952)</a>, members had sensory and trophic changes in addition to classic peroneal muscular atrophy. <a href="#64" class="mim-tip-reference" title="Norstrand, I. F., Margulies, M. E. <strong>Peripheral neuronopathy (Charcot-Marie-Tooth disease) in association with gastrointestinal symptoms.</strong> New York J. Med. 58: 863-867, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13517561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13517561</a>]" pmid="13517561">Norstrand and Margulies (1958)</a> observed affected members in 3 generations. Gastrointestinal symptoms in the form of chronic diarrhea, nausea, and vomiting were striking. Autopsy showed degeneration in the lateral horn area of the spinal cord. <a href="#76" class="mim-tip-reference" title="Stark, P. <strong>Etude clinique et genetique d'une famille atteinte d'atrophie musculaire progressive neurale (amyotrophie de Charcot-Marie).</strong> J. Genet. Hum. 7: 1-32, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13575796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13575796</a>]" pmid="13575796">Stark (1958)</a> described a large affected kindred. <a href="#2" class="mim-tip-reference" title="Alajouanine, T., Castaigne, P., Cambier, J., Escourolle, R. <strong>Maladie de Charcot-Marie: etude anatomo-clinique d'une observation suivie pendant 65 ans.</strong> Presse Med. 75: 2745-2750, 1967."None>Alajouanine et al. (1967)</a> reported the phenomenal case of a woman who was a patient in La Salpetriere, Paris, for 64 years. The diagnosis was made by Charcot in 1891. She died at age 80 years. Argyll-Robertson pupils and blindness from optic atrophy began 40 to 50 years after onset of other signs of disease. <a href="#12" class="mim-tip-reference" title="Bradley, W. G., Aguayo, A. J. <strong>Hereditary chronic polyneuropathy: electrophysiological and pathological studies in an affected family.</strong> J. Neurol. Sci. 9: 131-154, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4185983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4185983</a>] [<a href="https://doi.org/10.1016/0022-510x(69)90065-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4185983">Bradley and Aguayo (1969)</a> described a family in which persons in 3 generations had chronic sensorineural polyneuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14877348+13575796+4185983+13517561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The observations of <a href="#26" class="mim-tip-reference" title="Dyck, P. J., Lambert, E. H. <strong>Lower motor primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuronopathies.</strong> Arch. Neurol. 18: 603-618, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4297451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4297451</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470360025002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4297451">Dyck and Lambert (1968)</a> made it clear that cases diagnosed as peroneal muscular atrophy on clinical grounds include more than one genetic entity. Affected persons in some families showed markedly reduced peripheral nerve conduction velocity, and nerve biopsy displayed extensive segmental demyelination combined with concentric proliferation of Schwann cells (hypertrophic neuropathy). In other families affected persons showed relatively normal peripheral nerve conduction velocity and no changes on nerve biopsy. They concluded that in the latter families the disorder was a neuronal degeneration affecting both anterior horn cells and cells in the dorsal root ganglia. <a href="#26" class="mim-tip-reference" title="Dyck, P. J., Lambert, E. H. <strong>Lower motor primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuronopathies.</strong> Arch. Neurol. 18: 603-618, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4297451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4297451</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470360025002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4297451">Dyck and Lambert (1968)</a> suggested the existence of at least 3 entities: (1) a 'hypertrophic' neuropathy showing segmental demyelination in the peripheral nerves with marked reduction in nerve conduction; (2) a 'neuronal' type, with axonal degeneration but normal nerve conduction; and (3) a progressive 'spinal' form with profound distal weakness and atrophy in the lower limbs with no sensory abnormality. The authors noted the clinical overlap with amyloid neuropathy, particularly of the Indiana or Rukavina type (see <a href="/entry/176300">176300</a>), and with hypertrophic neuropathy of Dejerine-Sottas (<a href="/entry/145900">145900</a>). In a study of 17 families with autosomal dominant hereditary motor and sensory polyneuropathy, <a href="#79" class="mim-tip-reference" title="Thomas, P. K., Calne, D. B., Stewart, G. <strong>Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).</strong> Ann. Hum. Genet. 38: 111-153, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4467779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4467779</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1974.tb01945.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4467779">Thomas et al. (1974)</a> pointed out the clinical overlap between Charcot-Marie-Tooth disease (peroneal muscular atrophy), Dejerine-Sottas syndrome (hereditary hypertrophic neuropathy), and Roussy-Levy syndrome (<a href="/entry/180800">180800</a>). They suggested 'hereditary motor and sensory polyneuropathy' as an adequate designation for this heterogeneous class. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4467779+4297451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Kloepfer, H. W., Killian, J. M. <strong>Homozygous expression of a dominant gene causing peroneal muscular atrophy (Charcot-Marie-Tooth disease).</strong> Acta Genet. Med. Gemellol. 23: 217-220, 1974."None>Kloepfer and Killian (1974)</a> described an extensive kindred with CMT in Louisiana in which 66 persons were judged to be heterozygous. Two marriages between heterozygotes produced 5 persons judged to be homozygous. These had onset of symptoms in early childhood with crippling evident by age 10. Heterozygotes were usually asymptomatic until their 20s or 30s. Two living homozygotes had severe mixed sensory and motor polyneuropathy with involvement of the facial nerves (<a href="#49" class="mim-tip-reference" title="Killian, J. M., Kloepfer, H. W. <strong>Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.</strong> Ann. Neurol. 5: 515-522, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/475348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">475348</a>] [<a href="https://doi.org/10.1002/ana.410050604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="475348">Killian and Kloepfer, 1979</a>). Kyphoscoliosis, thickening of peripheral nerves, and pes cavus were striking. In one, cerebrospinal fluid protein was markedly elevated and peripheral nerve biopsy was consistent with hypertrophic interstitial neuritis of Dejerine and Sottas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=475348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Satya-Murti, S., Cacace, A. T., Hanson, P. A. <strong>Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy.</strong> Ann. Neurol. 5: 445-448, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/223494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">223494</a>] [<a href="https://doi.org/10.1002/ana.410050506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="223494">Satya-Murti et al. (1979)</a> presented evidence suggesting that the auditory nerves and spinal ganglia undergo the same pathologic process as do peripheral nerves. They referred to the condition as hereditary motor-sensory neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=223494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Harding, A. E., Thomas, P. K. <strong>The clinical features of hereditary motor and sensory neuropathy types I and II.</strong> Brain 103: 259-280, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7397478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7397478</a>] [<a href="https://doi.org/10.1093/brain/103.2.259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7397478">Harding and Thomas (1980)</a> confirmed division into CMT type 1 with slow conduction and CMT type 2 with normal conduction (rate in the median nerve below or above 38 meters per tenth second, respectively). They studied 228 patients (120 index cases and 108 affected relatives). Type 1 cases numbered 173 and type 2 55; 26 of the type 1 cases and 15 of the type 2 cases were sporadic. Most cases of type 1 showed autosomal dominant inheritance (39 families) but 4 probable autosomal recessive families were observed. No X-linked recessive families were found. In both types, males tended to be more severely affected, whereas affected but asymptomatic family members were more commonly female. Type 1 cases had a peak age of onset of symptoms in the first decade of life and in comparison with type 2 had a greater tendency to show weakness of the hands, upper limb tremors and ataxia, generalized tendon areflexia, and more extensive distal sensory loss, sometimes with acrodystrophic changes. Foot and spinal deformities were more frequent, probably because of the early age of onset. Nerve thickening was confined to type 1 cases. In type 2 cases, onset of symptoms was most often in the second decade. Most type 2 cases were autosomal dominant but 2 probable autosomal recessive and some sporadic cases were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7397478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#78" class="mim-tip-reference" title="Streib, E. W., Sun, S. F., Kimberling, W., Smith, S. A. <strong>Hypertrophic form of peroneal muscular atrophy (PMA): unusual nerve conduction results.</strong> Muscle Nerve 7: 32-34, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6700627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6700627</a>] [<a href="https://doi.org/10.1002/mus.880070106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6700627">Streib et al. (1984)</a> described a family in which the 42-year-old proposita and her 12-year-old son were typically affected, whereas the father of the proposita was asymptomatic and had a normal neurologic examination and normal foot arches but showed slowing of nerve conduction velocities limited to the peroneal nerves. Marker testing could not exclude paternity. <a href="#19" class="mim-tip-reference" title="Davis, C. J. F., Bradley, W. G., Madrid, R. <strong>The peroneal muscular atrophy syndrome: clinical, genetic and electrophysiologic findings and classification.</strong> J. Genet. Hum. 26: 311-349, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752065</a>]" pmid="752065">Davis et al. (1978)</a> reported a somewhat similar family in which 2 sisters were severely affected clinically and had nerve conduction velocities below 20 m/sec. The mother was normal and the father was asymptomatic but had mild pes cavus, slight peroneal weakness, and slow conduction (12 m/sec) in the peroneal nerve. Conduction velocities were normal for median and ulnar nerves. These may be examples of mosaicism in the father in each of these cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6700627+752065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a kindred with presumed CMT1B because of linkage to 1q markers, <a href="#47" class="mim-tip-reference" title="Ionasescu, V. V., Trofatter, J., Haines, J. L., Ionasescu, R., Searby, C. <strong>Charcot-Marie-Tooth neuropathy related to chromosome 1.</strong> Am. J. Med. Genet. 42: 728-732, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632448</a>] [<a href="https://doi.org/10.1002/ajmg.1320420521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1632448">Ionasescu et al. (1992)</a> described unusually early onset (before age 3 years) and phrenic nerve involvement in the proposita, a 39-year-old woman who required nocturnal ventilator support. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#81" class="mim-tip-reference" title="Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., Osame, M. <strong>Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.</strong> Acta Neuropath. 86: 602-608, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8310815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8310815</a>] [<a href="https://doi.org/10.1007/BF00294299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8310815">Umehara et al. (1993)</a> described a 31-year-old Japanese woman and her 5-year-old son considered to have dominant hereditary motor and sensory neuropathy with excessive myelin outfolding, or globular neuropathy. The main histologic features of the sural nerve were segmental demyelination and remyelination with moderate to marked loss of myelinated fibers, and myelin folding complex along all of the large and small myelinated fibers. The parents of the woman and all of her 8 sibs showed no neuromuscular abnormality. Insidious weakness of her legs had begun at 12 years. On examination, deep tendon reflexes were absent in both the arms and the legs. Vibration sensation was impaired in the distal part of the arms and was severely impaired in the distal part of the legs. Touch and pain sensations were normal. Nerve conduction studies showed marked slowing and absence of evoked responses of both motor and sensory nerves. The cerebrospinal fluid showed increased protein (111 mg/ml). Neither duplication nor deletion of the peripheral myelin protein-22 gene (<a href="/entry/601097">601097</a>) was suggested by Southern blot analysis. Globular neuropathy in 4 patients in an autosomal dominant pattern was first described by <a href="#22" class="mim-tip-reference" title="Dayan, A. D., Graveson, G. S., Robinson, P. K., Woodhouse, M. A. <strong>Globular neuropathy: a disorder of axons and Schwann cells.</strong> J. Neurol. Neurosurg. Psychiat. 31: 552-560, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4303801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4303801</a>] [<a href="https://doi.org/10.1136/jnnp.31.6.552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4303801">Dayan et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4303801+8310815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Hoff, J. M., Gilhus, N. E., Daltveit, A. K. <strong>Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease.</strong> Neurology 64: 459-462, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699375</a>] [<a href="https://doi.org/10.1212/01.WNL.0000150933.65709.96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15699375">Hoff et al. (2005)</a> compared obstetric outcomes of 108 births by 49 women with CMT to over 2 million births by mothers without CMT gathered from a Norwegian birth registry from 1967 to 2002. Patients with CMT had a higher occurrence of presentation anomalies (9.3% vs 4.5%) and postpartum bleeding (12% vs 5.8%). The rate of operative delivery was twice that of the reference group (29.6% vs 15.3%), and forceps were used 3 times as often in the CMT group (9.3% vs 2.7%). The majority of CMT cesarean sections were emergency procedures. <a href="#42" class="mim-tip-reference" title="Hoff, J. M., Gilhus, N. E., Daltveit, A. K. <strong>Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease.</strong> Neurology 64: 459-462, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699375</a>] [<a href="https://doi.org/10.1212/01.WNL.0000150933.65709.96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15699375">Hoff et al. (2005)</a> postulated that abnormal birth presentations may have reflected CMT in the fetus and that the high incidence of uterine atony in the mothers reflected CMT-mediated neuropathy of uterine adrenergic nerves. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15699375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Charcot-Marie-Tooth Associated with Other Conditions</em></strong></p><p>
|
|
<a href="#55" class="mim-tip-reference" title="Littler, W. A. <strong>Heart block and peroneal muscular atrophy: a family study.</strong> Quart. J. Med. 39: 431-439, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5478510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5478510</a>]" pmid="5478510">Littler (1970)</a> described a family in which peroneal muscular atrophy was associated with heart block. Ten members of 3 generations were affected. <a href="#55" class="mim-tip-reference" title="Littler, W. A. <strong>Heart block and peroneal muscular atrophy: a family study.</strong> Quart. J. Med. 39: 431-439, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5478510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5478510</a>]" pmid="5478510">Littler (1970)</a> proposed at least 3 genetic explanations: 2 independently segregating dominant disorders, 2 linked genes, and pleiotropic effects of a single gene. <a href="#48" class="mim-tip-reference" title="Kay, J. M., Littler, W. A., Meade, J. B. <strong>Ultrastructure of myocardium in familial heart block and peroneal muscular atrophy.</strong> Brit. Heart J. 34: 1081-1084, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5086979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5086979</a>] [<a href="https://doi.org/10.1136/hrt.34.10.1081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5086979">Kay et al. (1972)</a> studied a myocardial biopsy specimen from the proband of the family reported by <a href="#55" class="mim-tip-reference" title="Littler, W. A. <strong>Heart block and peroneal muscular atrophy: a family study.</strong> Quart. J. Med. 39: 431-439, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5478510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5478510</a>]" pmid="5478510">Littler (1970)</a>. The ultrastructural changes were similar to those previously described in simple myocardial hypertrophy and hypertrophic obstructive cardiomyopathy (<a href="/entry/192600">192600</a>). These consisted of the formation of cardiac 'villi' crowded with mitochondria, enhanced micropinocytosis, and vacuolation of the subsarcolemmal cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5086979+5478510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a brother and sister with type 1 CMT disease and type II diabetes mellitus, <a href="#14" class="mim-tip-reference" title="Chan, C. K., Mohsenin, V., Loke, J., Virgulto, J., Sipski, M. L., Ferranti, R. <strong>Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).</strong> Chest 91: 567-570, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3829750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3829750</a>] [<a href="https://doi.org/10.1378/chest.91.4.567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3829750">Chan et al. (1987)</a> found diaphragmatic impairment to be severe in the sister and mild in the brother. They suggested that nerve involvement may be part of the clinical picture when diabetes mellitus is present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3829750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Benko, W. S., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., Sidransky, E. <strong>Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3.</strong> Neurology 70: 976-978, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18347322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18347322</a>] [<a href="https://doi.org/10.1212/01.wnl.0000305963.37449.32" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18347322">Benko et al. (2008)</a> reported an unusual case in which a 3-year-old boy had both Gaucher disease type III (<a href="/entry/231000">231000</a>), resulting from a homozygous mutation in the GBA gene (L444P; <a href="/entry/606463#0001">606463.0001</a>) on chromosome 1q22, and CMT1B, resulting from a homozygous mutation in the MPZ gene on chromosome 1q23.3. Additional neurologic features included pupillary abnormalities and hearing loss. Further genetic analysis showed that the father also carried the MPZ mutation and had CMT1B, and that the boy had complete paternal isodisomy of chromosome 1 with no evidence of the maternal chromosome 1. <a href="#4" class="mim-tip-reference" title="Benko, W. S., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., Sidransky, E. <strong>Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3.</strong> Neurology 70: 976-978, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18347322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18347322</a>] [<a href="https://doi.org/10.1212/01.wnl.0000305963.37449.32" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18347322">Benko et al. (2008)</a> noted the atypical form of inheritance as well as the unique molecular mechanism of 2 concurrent mendelian disorders in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18347322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="inheritance" class="mim-anchor"></a>
|
|
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>CMT type 1 is most frequently transmitted in an autosomal dominant manner (<a href="#5" class="mim-tip-reference" title="Berger, P., Young, P., Suter, U. <strong>Molecular cell biology of Charcot-Marie-Tooth disease.</strong> Neurogenetics 4: 1-15, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030326</a>] [<a href="https://doi.org/10.1007/s10048-002-0130-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030326">Berger et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Studying 109 persons from completed sibships at risk for dominant CMT in 15 unrelated families, <a href="#7" class="mim-tip-reference" title="Bird, T. D., Kraft, G. H. <strong>Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk.</strong> Clin. Genet. 14: 43-49, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/679521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">679521</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1978.tb02059.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="679521">Bird and Kraft (1978)</a> concluded that penetrance (as indicated by physical examination and nerve conduction) was 28% complete in the first decade and essentially complete by the middle of the third decade. The average age of onset was 12.2 years with a standard deviation of 7.3. Persons over 27 years of age at risk but with no clinical manifestations have less than 3% probability of having inherited the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=679521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Semidominant Inheritance</em></strong></p><p>
|
|
<a href="#30" class="mim-tip-reference" title="Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N. <strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong> Neuromusc. Disord. 16: 183-187, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16488608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16488608</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16488608">Fabrizi et al. (2006)</a> reported an unusual Italian family with a history of consanguinity who exhibited semidominant inheritance of CMT1B due to an MPZ mutation affecting the intracellular region of the protein (D195Y; <a href="/entry/159440#0036">159440.0036</a>) that appeared to demonstrate a gene dosage effect. The proband was a 33-year-old woman with classic features of the disorder, including pes cavus with claw toes, peroneal atrophy, hypotrophy of intrinsic hand muscles, mildly ataxic gait, weakness of foot dorsiflexion, hypo/areflexia, and reduction of vibration sense with a stocking distribution. Her deceased father had pes cavus with claw toes, distal atrophy of the legs, steppage gait, weakness of foot dorsiflexion, and limb hypo/areflexia. Both were found to be homozygous for the D195Y mutation. In contrast, the 41-year-old sister and 75-year-old mother of the proband, who were both heterozygous for the mutation, showed no clinical features except for mildly decreased vibration sense in the distal legs in the mother. Neither had abnormal reflexes or foot deformities. Electrophysiologic studies showed markedly decreased NCVs in the affected proband and father (less than 30 m/s); the sister had diffuse mild slowing of NCV (44 m/s), whereas the mother had mild changes mainly in the median nerve (41 m/s). Sural nerve biopsy of the proband showed demyelination/remyelination with myelin outfoldings. Since only the homozygous individuals had an overt phenotype, <a href="#30" class="mim-tip-reference" title="Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N. <strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong> Neuromusc. Disord. 16: 183-187, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16488608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16488608</a>] [<a href="https://doi.org/10.1016/j.nmd.2006.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16488608">Fabrizi et al. (2006)</a> suggested that the position of the mutation in the intracellular region of MPZ, which is a rare occurrence, results in a gene dosage effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16488608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="diagnosis" class="mim-anchor"></a>
|
|
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#72" class="mim-tip-reference" title="Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E. <strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong> Ann. Neurol. 69: 22-33, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280073</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21280073[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.22166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21280073">Saporta et al. (2011)</a> were able to find a molecular basis for 527 (67%) of 787 patients with a clinical diagnosis of CMT. The most common CMT subtypes were CMT1A (<a href="/entry/118220">118220</a>) in 55%, CMT1X (<a href="/entry/302800">302800</a>) in 15.2%, HNPP (<a href="/entry/162500">162500</a>) in 9.1%, CMT1B in 8.5%, and CMT2A2 (<a href="/entry/609260">609260</a>) in 4.0%. All other subtypes accounted for less than 1% each. Eleven patients had more than 1 genetically identified subtype of CMT. Patients with genetically identified CMT were separable into specific groups based on age of onset and the degree of slowing of motor nerve conduction velocities. <a href="#72" class="mim-tip-reference" title="Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E. <strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong> Ann. Neurol. 69: 22-33, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280073</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21280073[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.22166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21280073">Saporta et al. (2011)</a> concluded that combining features of the phenotype and physiology allowed for identification of patients with specific subtypes of CMT, and the authors proposed a strategy of focused genetic testing for CMT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21280073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#9" class="mim-tip-reference" title="Bird, T. D., Ott, J., Giblett, E. R. <strong>Linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. (Abstract)</strong> Am. J. Hum. Genet. 32: 99A, 1980."None>Bird et al. (1980)</a> showed linkage of demyelinating autosomal dominant Charcot-Marie-Tooth disease (CMT1) to the Duffy blood group locus (Fy) on chromosome 1. <a href="#10" class="mim-tip-reference" title="Bird, T. D., Ott, J., Giblett, E. R. <strong>Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.</strong> Am. J. Hum. Genet. 34: 388-394, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6952764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6952764</a>]" pmid="6952764">Bird et al. (1982)</a> found a maximum lod score of 2.297 at recombination fraction of 0.1. <a href="#37" class="mim-tip-reference" title="Guiloff, R. J., Thomas, P. K., Contreras, M., Armitage, S., Schwarz, G., Sedgwick, E. M. <strong>Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.</strong> Ann. Hum. Genet. 46: 25-27, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6954871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6954871</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1982.tb00691.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6954871">Guiloff et al. (1982)</a> found that the combined male-female score at recombination fraction of 0.1 was 3.022. <a href="#77" class="mim-tip-reference" title="Stebbins, N. B., Conneally, P. M. <strong>Linkage of dominantly inherited Charcot Marie Tooth neuropathy to the Duffy locus in an Indiana family. (Abstract)</strong> Am. J. Hum. Genet. 34: 195A, 1982."None>Stebbins and Conneally (1982)</a> brought the cumulative lod score to 6.06 at theta 0.10. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6954871+6952764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By family studies using DNA markers, <a href="#15" class="mim-tip-reference" title="Chance, P., Dracopoli, N., Bird, T., Housman, D. E., Summar, M., Ketting, R. <strong>Linkage relationships of Charcot-Marie-Tooth neuropathy (HMSNIb) to chromosome 1 markers. (Abstract)</strong> Cytogenet. Cell Genet. 46: 592, 1987."None>Chance et al. (1987)</a> concluded that the probable limits of the CMT1 locus are 1p22-q23.</p><p>On the basis of 9 informative families, <a href="#46" class="mim-tip-reference" title="Ionasescu, V., Ginns, E., Burns, T., Searby, C., Ionasescu, R. <strong>Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and human glucocerebrosidase (GBA). (Abstract)</strong> Cytogenet. Cell Genet. 46: 633, 1987."None>Ionasescu et al. (1987)</a> found cosegregation consistent with linkage of CMT1 and GBA (<a href="/entry/606463">606463</a>), on 1q21, at a theta of about 0.10. <a href="#44" class="mim-tip-reference" title="Ionasescu, V., Anderson, R., Burns, T., Searby, C., Ionasescu, R. <strong>Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and apolipoprotein A2 (APOA2). (Abstract)</strong> Cytogenet. Cell Genet. 46: 633, 1987."None>Ionasescu et al. (1987)</a> also found evidence of linkage of CMT1 to APOA2 (<a href="/entry/107670">107670</a>), on 1q21, at a theta of about 0.20. In 16 CMT1 pedigrees, Griffiths et al. (<a href="#35" class="mim-tip-reference" title="Griffiths, L. R., Zwi, M. B., McLeod, J. G., Nicholson, G. A. <strong>Linkage studies on Charcot-Marie-Tooth neuropathy type 1. (Abstract)</strong> Cytogenet. Cell Genet. 46: 624, 1987."None>1987</a>, <a href="#36" class="mim-tip-reference" title="Griffiths, L. R., Zwi, M. B., McLeod, J. G., Nicholson, G. A. <strong>Chromosome 1 linkage studies in Charcot-Marie-Tooth neuropathy type 1.</strong> Am. J. Hum. Genet. 42: 756-771, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895983</a>]" pmid="2895983">1988</a>) found no linkage to REN (<a href="/entry/179820">179820</a>), on 1q32, or NGFB (<a href="/entry/162030">162030</a>), on 1p13. Although total lod scores excluded close linkage of CMT1 to any of the markers used, individual families showed probable linkage to Duffy, AT3 (<a href="/entry/107300">107300</a>), on 1q23, and/or AMY1 (<a href="/entry/104700">104700</a>), on 1p21. The results indicated that a CMT1 gene is located between AMY1 AT3, and that there is at least one other CMT1 gene. <a href="#15" class="mim-tip-reference" title="Chance, P., Dracopoli, N., Bird, T., Housman, D. E., Summar, M., Ketting, R. <strong>Linkage relationships of Charcot-Marie-Tooth neuropathy (HMSNIb) to chromosome 1 markers. (Abstract)</strong> Cytogenet. Cell Genet. 46: 592, 1987."None>Chance et al. (1987)</a> found that neither CMT1 nor Duffy blood group was tightly linked to AT3. They concluded that both loci must be close to the centromere of chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2895983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#69" class="mim-tip-reference" title="Patel, P. I., Franco, B., Cook, J., Ledbetter, D. H., Frances, S., Lupski, J. R. <strong>Charcot-Marie-Tooth disease, developmental delay, short stature, and dysmorphic features in a patient with an interstitial deletion of the long arm of chromosome 1 (1q23-1q25). (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A211, 1989."None>Patel et al. (1989)</a> found an interstitial deletion of 1q23-q25 in a patient with Charcot-Marie-Tooth disease, developmental delay, short stature, and dysmorphic features.</p><p><a href="#53" class="mim-tip-reference" title="Lebo, R. V., Dyck, P. J., Chance, P. F., King, M. C., Lynch, E., Redila-Flores, M., Golbus, M. S., Anderson, L. A., Christian, C. C., Flandermeyer, R. R., van der Ploeg, M., Weigant, J., and 28 others. <strong>Chromosome 1 Charcot-Marie-Tooth locus in Fc-gamma-RII gene region. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A148, 1989."None>Lebo et al. (1989)</a> mapped the CMT1B gene to 1q21.1-q23.3 by spot blot analysis of sorted chromosomes, analysis of cell lines with chromosome 1 deletions, linkage analysis, and in situ hybridization. In a single extensively affected Indiana kindred, multilocus linkage analysis performed by <a href="#53" class="mim-tip-reference" title="Lebo, R. V., Dyck, P. J., Chance, P. F., King, M. C., Lynch, E., Redila-Flores, M., Golbus, M. S., Anderson, L. A., Christian, C. C., Flandermeyer, R. R., van der Ploeg, M., Weigant, J., and 28 others. <strong>Chromosome 1 Charcot-Marie-Tooth locus in Fc-gamma-RII gene region. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A148, 1989."None>Lebo et al. (1989)</a> placed the CMT1B gene in the region of FCG2, the immunoglobulin G Fc receptor II locus (<a href="/entry/146790">146790</a>) on 1q21-q23. No recombinants were observed in 17 informative meioses (lod = 5.1 at theta = 0.00). Since FCG2 has been implicated in autoimmune disease and in the peripheral neuropathy caused by autoimmune disease, <a href="#53" class="mim-tip-reference" title="Lebo, R. V., Dyck, P. J., Chance, P. F., King, M. C., Lynch, E., Redila-Flores, M., Golbus, M. S., Anderson, L. A., Christian, C. C., Flandermeyer, R. R., van der Ploeg, M., Weigant, J., and 28 others. <strong>Chromosome 1 Charcot-Marie-Tooth locus in Fc-gamma-RII gene region. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A148, 1989."None>Lebo et al. (1989)</a> raised the possibility that abnormality in this gene may be the 'cause' of CMT1B. In 2 Duffy-linked families, <a href="#52" class="mim-tip-reference" title="Lebo, R. V., Chance, P. F., Dyck, P. J., Redila-Flores, M. T., Lynch, E. D., Golbus, M. S., Bird, T. D., King, M. C., Anderson, L. A., Hall, J., Wiegant, J., Jiang, Z., Dazin, P. F., Punnett, H. H., Schonberg, S. A., Moore, K., Shull, M. M., Gendler, S., Hurko, O., Lovelace, R. E., Latov, N., Trofatter, J., Conneally, P. M. <strong>Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc-gamma receptor gene region.</strong> Hum. Genet. 88: 1-12, 1991. Note: Erratum: Hum. Genet. 91: 301 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683643</a>] [<a href="https://doi.org/10.1007/BF00204921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683643">Lebo et al. (1991)</a> established that the CMT1B gene is located in the 18-cM region between the AT3 gene (<a href="/entry/107300">107300</a>) and the Duffy/sodium-potassium ATPase (<a href="/entry/182340">182340</a>) loci. <a href="#52" class="mim-tip-reference" title="Lebo, R. V., Chance, P. F., Dyck, P. J., Redila-Flores, M. T., Lynch, E. D., Golbus, M. S., Bird, T. D., King, M. C., Anderson, L. A., Hall, J., Wiegant, J., Jiang, Z., Dazin, P. F., Punnett, H. H., Schonberg, S. A., Moore, K., Shull, M. M., Gendler, S., Hurko, O., Lovelace, R. E., Latov, N., Trofatter, J., Conneally, P. M. <strong>Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc-gamma receptor gene region.</strong> Hum. Genet. 88: 1-12, 1991. Note: Erratum: Hum. Genet. 91: 301 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683643</a>] [<a href="https://doi.org/10.1007/BF00204921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683643">Lebo et al. (1991)</a> presented a physical and genetic map of the entire chromosome 1 showing, among other things, the breakpoints of 3 reciprocal translocations and 1 interstitial deletion used to sublocalize cloned DNAs by spot blot analysis of sorted chromosomes. Linkage analysis by <a href="#65" class="mim-tip-reference" title="O'Connell, P., Lathrop, G. M., Nakamura, Y., Leppert, M. L., Ardinger, R. H., Murray, J. L., Lalouel, J.-M., White, R. <strong>Twenty-eight loci form a continuous linkage map of markers for human chromosome 1.</strong> Genomics 4: 12-20, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2914706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2914706</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90308-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2914706">O'Connell et al. (1989)</a> had established a continuous chromosome 1 sex-averaged linkage map of 464 cM. <a href="#54" class="mim-tip-reference" title="Lebo, R. V., Lynch, E. D., Wiegant, J., Moore, K., Trounstine, M., van der Ploeg, M. <strong>Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region.</strong> Hum. Genet. 88: 13-20, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683644</a>] [<a href="https://doi.org/10.1007/BF00204922" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683644">Lebo et al. (1991)</a> refined the CMT1B genetic location from an 18-cM interval to a 6-cM interval and reduced the physical interval from 15% of chromosome 1 to 3% of chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1683644+2914706+1683643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F. <strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong> Nature Genet. 5: 31-34, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>] [<a href="https://doi.org/10.1038/ng0993-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693129">Hayasaka et al. (1993)</a> and <a href="#66" class="mim-tip-reference" title="Oakey, R. J., Watson, M. L., Seldin, M. F. <strong>Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.</strong> Hum. Molec. Genet. 1: 613-620, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301170</a>] [<a href="https://doi.org/10.1093/hmg/1.8.613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301170">Oakey et al. (1992)</a> mapped the MPZ gene to 1q22-q23 in the same region as the CMT1B locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7693129+1301170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
|
|
In a single family of axonal CMT2 (<a href="/entry/118210">118210</a>), <a href="#37" class="mim-tip-reference" title="Guiloff, R. J., Thomas, P. K., Contreras, M., Armitage, S., Schwarz, G., Sedgwick, E. M. <strong>Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.</strong> Ann. Hum. Genet. 46: 25-27, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6954871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6954871</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1982.tb00691.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6954871">Guiloff et al. (1982)</a> found 2 recombinants between Fy and CMT2 (out of 2 opportunities), suggesting genetic distinctness from CMT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6954871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Dyck, P. J., Ott, J., Moore, S. B., Swanson, C. J., Lambert, E. H. <strong>Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.</strong> Mayo Clin. Proc. 58: 430-435, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865476</a>]" pmid="6865476">Dyck et al. (1983)</a> restudied 2 kindreds with type I hereditary motor and sensory neuropathy. One kindred showed segregation consistent with linkage, but, to their surprise, 1 large kindred did not show linkage. They suggested that the Duffy-unlinked form be called HMSN IA (<a href="/entry/118220">118220</a>) and the Duffy-linked form be called HMSN IB. They could demonstrate no phenotypic differences between the linked and unlinked forms. <a href="#8" class="mim-tip-reference" title="Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., Kraft, G. H. <strong>Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).</strong> Ann. Neurol. 14: 679-684, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651251</a>] [<a href="https://doi.org/10.1002/ana.410140612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6651251">Bird et al. (1983)</a> excluded linkage with Duffy in a large 3-generation family with HMSN I. They suggested that the form not linked to Duffy may have less severe slowing of motor nerve conduction and less prominent onion bulb changes on sural nerve biopsy. <a href="#51" class="mim-tip-reference" title="Leblhuber, F., Reisecker, F., Mayr, W. R., Deisenhammer, E. <strong>Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT).</strong> Acta Neurol. Scand. 74: 145-149, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3022527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3022527</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1986.tb04641.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3022527">Leblhuber et al. (1986)</a> excluded tight linkage with the Duffy locus in a family with HMSN I. In the study of <a href="#45" class="mim-tip-reference" title="Ionasescu, V., Ferrell, R., Murray, J., Burns, T., Ionasescu, R., Searby, C. <strong>No linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and Duffy blood group (Fy). (Abstract)</strong> Cytogenet. Cell Genet. 46: 633, 1987."None>Ionasescu et al. (1987)</a>, 13 families with CMT1 failed to show linkage with Duffy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6865476+3022527+6651251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#60" class="mim-tip-reference" title="Middleton-Price, H., van den Berghe, J., Harding, A., Scott, J., Malcolm, S. <strong>Analysis of markers on chromosome 1. (Abstract)</strong> Cytogenet. Cell Genet. 46: 662, 1987."None>Middleton-Price et al. (1987)</a> and <a href="#59" class="mim-tip-reference" title="Middleton-Price, H. R., Harding, A. E., Berciano, J., Pastor, J. M., Huson, S. M., Malcolm, S. <strong>Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers.</strong> Genomics 4: 192-197, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2737679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2737679</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90299-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2737679">Middleton-Price et al. (1989)</a> also failed to find linkage with Fy in 12 families. They raised the question as to whether reports of linkage may be based on a selection of families that by chance show linkage, arguing that others do not because of genetic heterogeneity. They pointed out that intrafamilial variability is great so that the use of interfamilial variability as an argument for genetic heterogeneity should be viewed with caution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2737679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In 2 pedigrees with CMT type 1, <a href="#39" class="mim-tip-reference" title="Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F. <strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong> Nature Genet. 5: 31-34, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>] [<a href="https://doi.org/10.1038/ng0993-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693129">Hayasaka et al. (1993)</a> identified mutations in the MPZ gene (<a href="/entry/159440#0001">159440.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with CMT1B with focally folded myelin sheaths first reported by <a href="#81" class="mim-tip-reference" title="Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., Osame, M. <strong>Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.</strong> Acta Neuropath. 86: 602-608, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8310815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8310815</a>] [<a href="https://doi.org/10.1007/BF00294299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8310815">Umehara et al. (1993)</a>, <a href="#62" class="mim-tip-reference" title="Nakagawa, M., Suehara, M., Saito, A., Takashima, H., Umehara, F., Saito, M., Kanzato, N., Matsuzaki, T., Takenaga, S., Sakoda, S., Izumo, S., Osame, M. <strong>A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.</strong> Neurology 52: 1271-1275, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10214757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10214757</a>] [<a href="https://doi.org/10.1212/wnl.52.6.1271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10214757">Nakagawa et al. (1999)</a> identified a heterozygous mutation in the MPZ gene (<a href="/entry/159440#0024">159440.0024</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10214757+8310815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 pedigrees with a late-onset, relatively mild form of CMT1B with focally folded myelin sheaths, <a href="#31" class="mim-tip-reference" title="Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N. <strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong> Acta Neuropath. 100: 299-304, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>] [<a href="https://doi.org/10.1007/s004019900175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10965800">Fabrizi et al. (2000)</a> identified a heterozygous mutation in the MPZ gene (<a href="/entry/159440#0023">159440.0023</a>). Pathology showed a characteristic demyelinating process, but also revealed irregular myelin outfoldings and infoldings and tomacula. <a href="#31" class="mim-tip-reference" title="Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N. <strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong> Acta Neuropath. 100: 299-304, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>] [<a href="https://doi.org/10.1007/s004019900175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10965800">Fabrizi et al. (2000)</a> noted that myelin outfoldings have been described in other autosomal dominant CMT patients with mutations in MPZ, EGR2 (<a href="/entry/129010#0004">129010.0004</a>), and PMP22 (<a href="/entry/601097#0016">601097.0016</a>), and that the finding is not restricted to CMT4B (see CMT4B1; <a href="/entry/601382">601382</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#68" class="mim-tip-reference" title="Pareyson, D. <strong>Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.</strong> Muscle Nerve 22: 1498-1509, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10514227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10514227</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10514227">Pareyson (1999)</a> and <a href="#5" class="mim-tip-reference" title="Berger, P., Young, P., Suter, U. <strong>Molecular cell biology of Charcot-Marie-Tooth disease.</strong> Neurogenetics 4: 1-15, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030326</a>] [<a href="https://doi.org/10.1007/s10048-002-0130-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030326">Berger et al. (2002)</a> gave comprehensive reviews of the molecular cell biology of Charcot-Marie-Tooth disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10514227+12030326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Hisama, F. M. <strong>Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.</strong> Arch. Neurol. 62: 135-138, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642860</a>] [<a href="https://doi.org/10.1001/archneur.62.1.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642860">Hisama (2005)</a> described a 7-generation family in which multiple members were affected with a complicated neurologic phenotype including variable features of neuropathy, myotonia, and periodic paralysis. The same family had been described in the medical literature since 1934. The proband had late-onset demyelinating CMT, muscle cramping, and myotonia. His sister had hyperkalemic periodic paralysis (HYPP; <a href="/entry/170500">170500</a>), and his father had severe childhood-onset CMT and periodic paralysis. Multiple other relatives had similar features of 1 or both disorders. Molecular analysis identified a missense mutation in the MPZ gene in the proband and a missense mutation in the SCN4A gene (<a href="/entry/603967#0001">603967.0001</a>) in the sister; the father was deceased. Of those tested, 1 other family member had the MPZ mutation, and 4 other family members had the SCN4A mutation. <a href="#41" class="mim-tip-reference" title="Hisama, F. M. <strong>Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.</strong> Arch. Neurol. 62: 135-138, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642860</a>] [<a href="https://doi.org/10.1001/archneur.62.1.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642860">Hisama (2005)</a> commented on the unusual occurrence of 2 genetically unlinked neurologic disorders in this family and emphasized the diagnostic difficulties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between autosomal dominant demyelinating Charcot-Marie-Tooth disease and variation in the C1ORF194 (CFAP276) gene, see <a href="/entry/618682#0002">618682.0002</a>.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="populationGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#11" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong> Ann. Neurol. 51: 190-201, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>] [<a href="https://doi.org/10.1002/ana.10089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835375">Boerkoel et al. (2002)</a> provided information on the relative frequency of mutations causing CMT or a related peripheral neuropathy. Among 153 unrelated patients with peripheral neuropathy, 79 had a 17p12 duplication (PMP22 duplication) (<a href="/entry/601097">601097</a>) causing CMT1A, 11 a connexin-32 (<a href="/entry/304040">304040</a>) mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein-22 mutation, 1 an early growth response factor-2 mutation (<a href="/entry/129010">129010</a>), 1 a periaxin mutation (<a href="/entry/605725">605725</a>), and 1 a neurofilament light chain mutation (<a href="/entry/162280">162280</a>), whereas none had a myotubularin-related protein-2 mutation (<a href="/entry/603557">603557</a>); 50 had no identifiable mutation. The NMYC downstream-regulated gene-1 (<a href="/entry/605262">605262</a>) and the kinesin-1B gene (<a href="/entry/605995">605995</a>) were not screened for mutations. Because one-third of the mutations found in this study had arisen de novo and thereby caused chronic sporadic neuropathy, <a href="#11" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R. <strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong> Ann. Neurol. 51: 190-201, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>] [<a href="https://doi.org/10.1002/ana.10089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835375">Boerkoel et al. (2002)</a> concluded that the molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11835375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 227 Japanese patients with demyelinating CMT, <a href="#1" class="mim-tip-reference" title="Abe, A., Numakura, C., Kijima, K., Hayashi, M., Hashimoto, T., Hayasaka, K. <strong>Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.</strong> J. Hum. Genet. 56: 364-368, 2011. Note: Erratum: J. Hum. Genet. 56: 751 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326314</a>] [<a href="https://doi.org/10.1038/jhg.2011.20" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21326314">Abe et al. (2011)</a> found that 20 (8.8%) carried mutations in the MPZ gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="history" class="mim-anchor"></a>
|
|
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>For a history of CMT disease, see <a href="#75" class="mim-tip-reference" title="Smith, A. G. <strong>Charcot-Marie-Tooth disease.</strong> Arch. Neurol. 58: 1014-1016, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11405820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11405820</a>] [<a href="https://doi.org/10.1001/archneur.58.6.1014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11405820">Smith (2001)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11405820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Allan, W. <strong>Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.</strong> Arch. Intern. Med. 63: 1123-1131, 1939."None>Allan (1939)</a> noted that CMT is one of the entities that, like spastic paraplegia and retinitis pigmentosa, demonstrates variable patterns of inheritance.</p><p>The first clear descriptions of peroneal muscular atrophy were made simultaneously by <a href="#17" class="mim-tip-reference" title="Charcot, J. M., Marie, P. <strong>Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains.</strong> Rev. Med. 6: 97-138, 1886."None>Charcot and Marie (1886)</a> and <a href="#80" class="mim-tip-reference" title="Tooth, H. H. <strong>The Peroneal Type of Progressive Muscular Atrophy.</strong> London: H. K. Lewis (pub.) 1886."None>Tooth (1886)</a>. <a href="#13" class="mim-tip-reference" title="Brody, I. A., Wilkins, R. H. <strong>Charcot-Marie-Tooth disease.</strong> Arch. Neurol. 17: 552-553, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4293350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4293350</a>] [<a href="https://doi.org/10.1001/archneur.1967.00470290106015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4293350">Brody and Wilkins (1967)</a> reprinted Charcot's description. Confusion was introduced by the description of <a href="#23" class="mim-tip-reference" title="Dejerine, J., Sottas, J. <strong>Sur la nevrite interstitielle hypertrophique et progressive de l'enfance.</strong> Comp. Rend. Soc. Biol. 45: 63-96, 1893."None>Dejerine and Sottas (1893)</a> of hypertrophic neuropathy and the emergence, in 1926, of the concept of Roussy-Levy syndrome. A semblance of order was restored by study of nerve conduction, especially by <a href="#26" class="mim-tip-reference" title="Dyck, P. J., Lambert, E. H. <strong>Lower motor primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuronopathies.</strong> Arch. Neurol. 18: 603-618, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4297451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4297451</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470360025002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4297451">Dyck and Lambert (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4297451+4293350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Goetz, C. G. <strong>Jean-Martin Charcot and the aging brain.</strong> Arch. Neurol. 59: 1821-1824, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12433272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12433272</a>] [<a href="https://doi.org/10.1001/archneur.59.11.1821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12433272">Goetz (2002)</a> pointed out that most of Charcot's neurologic work involved the aging brain and nervous system. His illustrious career was spent at the Salpetriere hospital, officially known as the Hospice de Vieillesse-Femmes, or State Hospice for the Elderly--Women's Division. Within the walls of this enormous complex, Charcot created a neurologic mecca and developed a large inpatient unit, clinical laboratories, and a comprehensive pathology service for studies of autopsy specimens. When Charcot arrived at the Salpetriere in 1862 as a new appointee in the public health system, the hospice housed primarily thousands of indigent, chronically ill women who had no other place to live, and annual mortality was approximately 25%. The interest in the patients that came with Charcot's development of the world center there, must have improved the quality of life of the patients (known as 'inmates') and probably even reduced mortality even though little could be done therapeutically for most of them. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12433272" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Mapping</em></strong></p><p>
|
|
<a href="#40" class="mim-tip-reference" title="Heimler, A., Friedman, E., Rosenthal, A. <strong>Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.</strong> J. Med. Genet. 15: 288-291, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/712760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">712760</a>] [<a href="https://doi.org/10.1136/jmg.15.4.288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="712760">Heimler et al. (1978)</a> described a family in which the basal cell nevus syndrome (<a href="/entry/109400">109400</a>) and Charcot-Marie-Tooth disease were transmitted together through 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=712760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Greene, M. H., Mead, G. D., Reimer, R. R., Bergfeld, W. F., Fraumeni, J. F., Jr. <strong>Malignant melanoma and Charcot-Marie-Tooth disease.</strong> Am. J. Med. Genet. 5: 69-71, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7395902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7395902</a>] [<a href="https://doi.org/10.1002/ajmg.1320050109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7395902">Greene et al. (1980)</a> reported 2 cases of CMT disease with malignant melanoma (<a href="/entry/155600">155600</a>). One was clearly a dominant form of CMT. The other patient, a male, had a brother with CMT. Although the association may have occurred by chance, the authors raised the possibility of a shared neural crest defect or genetic linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7395902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Bird1981" class="mim-tip-reference" title="Bird, T. D., Griep, E. <strong>Pattern reversal visual evoked potentials: studies in Charcot-Marie-Tooth hereditary neuropathy.</strong> Arch. Neurol. 38: 739-741, 1981.">Bird and Griep (1981)</a>; <a href="#Chance1987" class="mim-tip-reference" title="Chance, P. F., Murray, J. C., Bird, T. D., Kochin, R. S. <strong>Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers.</strong> Neurology 37: 325-329, 1987.">Chance et al. (1987)</a>; <a href="#Combarros1983" class="mim-tip-reference" title="Combarros, O., Calleja, J., Figols, J., Cabello, A., Berciano, J. <strong>Dominantly inherited motor and sensory neuropathy type 1: genetic, clinical, electrophysiological and pathological features in four families.</strong> J. Neurol. Sci. 61: 181-191, 1983.">Combarros et al. (1983)</a>; <a href="#Dawidenkow1927" class="mim-tip-reference" title="Dawidenkow, S. <strong>Neurotic muscular atrophy of Charcot-Marie type.</strong> Z. Ges. Neurol. Psychiat. 107: 259-320, 1927.">Dawidenkow (1927)</a>; <a href="#Dawidenkow1927" class="mim-tip-reference" title="Dawidenkow, S. <strong>Neurotic muscular atrophy of Charcot-Marie type.</strong> Z. Ges. Neurol. Psychiat. 107: 259-320, 1927.">Dawidenkow (1927)</a>; <a href="#Dyck1963" class="mim-tip-reference" title="Dyck, P. J., Lambert, E. H., Mulder, D. W. <strong>Charcot-Marie-Tooth disease: nerve conduction and clinical studies of a large kinship.</strong> Neurology 13: 1-11, 1963.">Dyck et al. (1963)</a>; <a href="#Dyck1968" class="mim-tip-reference" title="Dyck, P. J., Lambert, E. H. <strong>Lower motor primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuronopathies.</strong> Arch. Neurol. 18: 603-618, 1968.">Dyck and
|
|
Lambert (1968)</a>; <a href="#Dyck1966" class="mim-tip-reference" title="Dyck, P. J. <strong>Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy.</strong> Mayo Clin. Proc. 41: 742-774, 1966.">Dyck (1966)</a>; <a href="#Griffiths1985" class="mim-tip-reference" title="Griffiths, J. D., Stark, R. J., Ding, J. C., Cooper, I. A. <strong>Vincristine neurotoxicity in Charcot-Marie-Tooth syndrome.</strong> Med. J. Aust. 143: 305-306, 1985.">Griffiths et al. (1985)</a>; <a href="#Hogan-Dann1984" class="mim-tip-reference" title="Hogan-Dann, C. M., Fellmeth, W. G., McGuire, S. A., Kiley, V. A. <strong>Polyneuropathy following vincristine therapy in two patients with Charcot-Marie-Tooth syndrome.</strong> JAMA 252: 2862-2863, 1984.">Hogan-Dann et
|
|
al. (1984)</a>; <a href="#Lucas1962" class="mim-tip-reference" title="Lucas, G. J., Forster, F. M. <strong>Charcot-Marie-Tooth disease with associated myopathy: a report of a family.</strong> Neurology 12: 629-636, 1962.">Lucas and Forster (1962)</a>; <a href="#Macklin1926" class="mim-tip-reference" title="Macklin, M. T., Bowman, J. T. <strong>Inheritance of peroneal atrophy.</strong> JAMA 86: 613-617, 1926.">Macklin and Bowman (1926)</a>; <a href="#Naumann2001" class="mim-tip-reference" title="Naumann, R., Mohm, J., Reuner, U., Kroschinsky, F., Rautenstrauss, B., Ehninger, G. <strong>Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity.</strong> Brit. J. Haemat. 115: 323-325, 2001.">Naumann et al. (2001)</a>; <a href="#Ouvrier1987" class="mim-tip-reference" title="Ouvrier, R. A., McLeod, J. G., Conchin, T. E. <strong>The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.</strong> Brain 110: 121-148, 1987.">Ouvrier et al. (1987)</a>; <a href="#Pollock1982" class="mim-tip-reference" title="Pollock, M., Nukada, H., Kritchevsky, M. <strong>Exacerbation of Charcot-Marie-Tooth disease in pregnancy.</strong> Neurology 32: 1311-1314, 1982.">Pollock et al. (1982)</a>; <a href="#Salisachs1977" class="mim-tip-reference" title="Salisachs, P., Lapresle, J. <strong>Argyll-Robertson-like pupils in the neural type of Charcot-Marie-Tooth disease.</strong> Europ. Neurol. 16: 172-175, 1977.">Salisachs and Lapresle (1977)</a>; <a href="#Weiden1972" class="mim-tip-reference" title="Weiden, P. L., Wright, S. E. <strong>Vincristine neurotoxicity.</strong> New Eng. J. Med. 286: 1369-1370, 1972.">Weiden and Wright (1972)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Abe2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Abe, A., Numakura, C., Kijima, K., Hayashi, M., Hashimoto, T., Hayasaka, K.
|
|
<strong>Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.</strong>
|
|
J. Hum. Genet. 56: 364-368, 2011. Note: Erratum: J. Hum. Genet. 56: 751 only, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/jhg.2011.20" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Alajouanine1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Alajouanine, T., Castaigne, P., Cambier, J., Escourolle, R.
|
|
<strong>Maladie de Charcot-Marie: etude anatomo-clinique d'une observation suivie pendant 65 ans.</strong>
|
|
Presse Med. 75: 2745-2750, 1967.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Allan1939" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Allan, W.
|
|
<strong>Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.</strong>
|
|
Arch. Intern. Med. 63: 1123-1131, 1939.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Benko2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benko, W. S., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., Sidransky, E.
|
|
<strong>Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3.</strong>
|
|
Neurology 70: 976-978, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18347322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18347322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18347322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000305963.37449.32" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Berger2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Berger, P., Young, P., Suter, U.
|
|
<strong>Molecular cell biology of Charcot-Marie-Tooth disease.</strong>
|
|
Neurogenetics 4: 1-15, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s10048-002-0130-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Bird1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Griep, E.
|
|
<strong>Pattern reversal visual evoked potentials: studies in Charcot-Marie-Tooth hereditary neuropathy.</strong>
|
|
Arch. Neurol. 38: 739-741, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7316837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7316837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7316837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1981.00510120039003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Bird1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Kraft, G. H.
|
|
<strong>Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk.</strong>
|
|
Clin. Genet. 14: 43-49, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/679521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">679521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=679521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb02059.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Bird1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., Kraft, G. H.
|
|
<strong>Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).</strong>
|
|
Ann. Neurol. 14: 679-684, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6651251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410140612" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Bird1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Ott, J., Giblett, E. R.
|
|
<strong>Linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 32: 99A, 1980.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Bird1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Ott, J., Giblett, E. R.
|
|
<strong>Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.</strong>
|
|
Am. J. Hum. Genet. 34: 388-394, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6952764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6952764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6952764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Boerkoel2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong>
|
|
Ann. Neurol. 51: 190-201, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11835375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.10089" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Bradley1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bradley, W. G., Aguayo, A. J.
|
|
<strong>Hereditary chronic polyneuropathy: electrophysiological and pathological studies in an affected family.</strong>
|
|
J. Neurol. Sci. 9: 131-154, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4185983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4185983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4185983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(69)90065-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Brody1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brody, I. A., Wilkins, R. H.
|
|
<strong>Charcot-Marie-Tooth disease.</strong>
|
|
Arch. Neurol. 17: 552-553, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4293350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4293350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4293350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1967.00470290106015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Chan1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chan, C. K., Mohsenin, V., Loke, J., Virgulto, J., Sipski, M. L., Ferranti, R.
|
|
<strong>Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).</strong>
|
|
Chest 91: 567-570, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3829750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3829750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3829750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1378/chest.91.4.567" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Chance1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chance, P., Dracopoli, N., Bird, T., Housman, D. E., Summar, M., Ketting, R.
|
|
<strong>Linkage relationships of Charcot-Marie-Tooth neuropathy (HMSNIb) to chromosome 1 markers. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 592, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Chance1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chance, P. F., Murray, J. C., Bird, T. D., Kochin, R. S.
|
|
<strong>Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers.</strong>
|
|
Neurology 37: 325-329, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3468376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3468376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3468376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.37.2.325" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Charcot1886" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Charcot, J. M., Marie, P.
|
|
<strong>Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains.</strong>
|
|
Rev. Med. 6: 97-138, 1886.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Combarros1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Combarros, O., Calleja, J., Figols, J., Cabello, A., Berciano, J.
|
|
<strong>Dominantly inherited motor and sensory neuropathy type 1: genetic, clinical, electrophysiological and pathological features in four families.</strong>
|
|
J. Neurol. Sci. 61: 181-191, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6315895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6315895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6315895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(83)90004-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Davis1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Davis, C. J. F., Bradley, W. G., Madrid, R.
|
|
<strong>The peroneal muscular atrophy syndrome: clinical, genetic and electrophysiologic findings and classification.</strong>
|
|
J. Genet. Hum. 26: 311-349, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=752065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Dawidenkow1927" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dawidenkow, S.
|
|
<strong>Charcot-Marie type.</strong>
|
|
Z. Ges. Neurol. Psychiat. 108: 344-445, 1927.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Dawidenkow1927" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dawidenkow, S.
|
|
<strong>Neurotic muscular atrophy of Charcot-Marie type.</strong>
|
|
Z. Ges. Neurol. Psychiat. 107: 259-320, 1927.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Dayan1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dayan, A. D., Graveson, G. S., Robinson, P. K., Woodhouse, M. A.
|
|
<strong>Globular neuropathy: a disorder of axons and Schwann cells.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 31: 552-560, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4303801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4303801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4303801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.31.6.552" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Dejerine1893" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dejerine, J., Sottas, J.
|
|
<strong>Sur la nevrite interstitielle hypertrophique et progressive de l'enfance.</strong>
|
|
Comp. Rend. Soc. Biol. 45: 63-96, 1893.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Dyck1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Lambert, E. H., Mulder, D. W.
|
|
<strong>Charcot-Marie-Tooth disease: nerve conduction and clinical studies of a large kinship.</strong>
|
|
Neurology 13: 1-11, 1963.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Dyck1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Lambert, E. H.
|
|
<strong>Lower motor and primary sensory neuron disease with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.</strong>
|
|
Arch. Neurol. 18: 619-625, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5652992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5652992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5652992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1968.00470360041003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Dyck1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Lambert, E. H.
|
|
<strong>Lower motor primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuronopathies.</strong>
|
|
Arch. Neurol. 18: 603-618, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4297451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4297451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4297451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1968.00470360025002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Dyck1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Ott, J., Moore, S. B., Swanson, C. J., Lambert, E. H.
|
|
<strong>Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.</strong>
|
|
Mayo Clin. Proc. 58: 430-435, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6865476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Dyck1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dyck, P. J.
|
|
<strong>Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy.</strong>
|
|
Mayo Clin. Proc. 41: 742-774, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4289252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4289252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4289252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="England1952" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
England, A. C., Denny-Brown, D.
|
|
<strong>Sensory changes, and trophic disorder, in peroneal muscular atrophy (Charcot-Marie-Tooth type).</strong>
|
|
Arch. Neurol. Psychiat. 67: 1-22, 1952.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14877348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14877348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14877348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneurpsyc.1952.02320130007001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Fabrizi2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N.
|
|
<strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong>
|
|
Neuromusc. Disord. 16: 183-187, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16488608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16488608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16488608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.nmd.2006.01.006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Fabrizi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N.
|
|
<strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong>
|
|
Acta Neuropath. 100: 299-304, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004019900175" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Goetz2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Goetz, C. G.
|
|
<strong>Jean-Martin Charcot and the aging brain.</strong>
|
|
Arch. Neurol. 59: 1821-1824, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12433272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12433272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12433272" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.59.11.1821" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Greene1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Greene, M. H., Mead, G. D., Reimer, R. R., Bergfeld, W. F., Fraumeni, J. F., Jr.
|
|
<strong>Malignant melanoma and Charcot-Marie-Tooth disease.</strong>
|
|
Am. J. Med. Genet. 5: 69-71, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7395902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7395902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7395902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320050109" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Griffiths1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Griffiths, J. D., Stark, R. J., Ding, J. C., Cooper, I. A.
|
|
<strong>Vincristine neurotoxicity in Charcot-Marie-Tooth syndrome.</strong>
|
|
Med. J. Aust. 143: 305-306, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4046919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4046919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4046919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.5694/j.1326-5377.1985.tb123018.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Griffiths1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Griffiths, L. R., Zwi, M. B., McLeod, J. G., Nicholson, G. A.
|
|
<strong>Linkage studies on Charcot-Marie-Tooth neuropathy type 1. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 624, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Griffiths1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Griffiths, L. R., Zwi, M. B., McLeod, J. G., Nicholson, G. A.
|
|
<strong>Chromosome 1 linkage studies in Charcot-Marie-Tooth neuropathy type 1.</strong>
|
|
Am. J. Hum. Genet. 42: 756-771, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2895983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Guiloff1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Guiloff, R. J., Thomas, P. K., Contreras, M., Armitage, S., Schwarz, G., Sedgwick, E. M.
|
|
<strong>Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.</strong>
|
|
Ann. Hum. Genet. 46: 25-27, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6954871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6954871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6954871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1982.tb00691.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Harding1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harding, A. E., Thomas, P. K.
|
|
<strong>The clinical features of hereditary motor and sensory neuropathy types I and II.</strong>
|
|
Brain 103: 259-280, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7397478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7397478</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7397478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/103.2.259" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Hayasaka1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F.
|
|
<strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong>
|
|
Nature Genet. 5: 31-34, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0993-31" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Heimler1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Heimler, A., Friedman, E., Rosenthal, A.
|
|
<strong>Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.</strong>
|
|
J. Med. Genet. 15: 288-291, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/712760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">712760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=712760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.15.4.288" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Hisama2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hisama, F. M.
|
|
<strong>Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.</strong>
|
|
Arch. Neurol. 62: 135-138, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642860</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.62.1.135" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Hoff2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hoff, J. M., Gilhus, N. E., Daltveit, A. K.
|
|
<strong>Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease.</strong>
|
|
Neurology 64: 459-462, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15699375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.WNL.0000150933.65709.96" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Hogan-Dann1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hogan-Dann, C. M., Fellmeth, W. G., McGuire, S. A., Kiley, V. A.
|
|
<strong>Polyneuropathy following vincristine therapy in two patients with Charcot-Marie-Tooth syndrome.</strong>
|
|
JAMA 252: 2862-2863, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6092732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6092732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6092732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Ionasescu1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ionasescu, V., Anderson, R., Burns, T., Searby, C., Ionasescu, R.
|
|
<strong>Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and apolipoprotein A2 (APOA2). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 633, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Ionasescu1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ionasescu, V., Ferrell, R., Murray, J., Burns, T., Ionasescu, R., Searby, C.
|
|
<strong>No linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and Duffy blood group (Fy). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 633, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Ionasescu1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ionasescu, V., Ginns, E., Burns, T., Searby, C., Ionasescu, R.
|
|
<strong>Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and human glucocerebrosidase (GBA). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 633, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Ionasescu1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ionasescu, V. V., Trofatter, J., Haines, J. L., Ionasescu, R., Searby, C.
|
|
<strong>Charcot-Marie-Tooth neuropathy related to chromosome 1.</strong>
|
|
Am. J. Med. Genet. 42: 728-732, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320420521" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Kay1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kay, J. M., Littler, W. A., Meade, J. B.
|
|
<strong>Ultrastructure of myocardium in familial heart block and peroneal muscular atrophy.</strong>
|
|
Brit. Heart J. 34: 1081-1084, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5086979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5086979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5086979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/hrt.34.10.1081" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Killian1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Killian, J. M., Kloepfer, H. W.
|
|
<strong>Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.</strong>
|
|
Ann. Neurol. 5: 515-522, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/475348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">475348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=475348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410050604" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Kloepfer1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kloepfer, H. W., Killian, J. M.
|
|
<strong>Homozygous expression of a dominant gene causing peroneal muscular atrophy (Charcot-Marie-Tooth disease).</strong>
|
|
Acta Genet. Med. Gemellol. 23: 217-220, 1974.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Leblhuber1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leblhuber, F., Reisecker, F., Mayr, W. R., Deisenhammer, E.
|
|
<strong>Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT).</strong>
|
|
Acta Neurol. Scand. 74: 145-149, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3022527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3022527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3022527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1600-0404.1986.tb04641.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Lebo1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Chance, P. F., Dyck, P. J., Redila-Flores, M. T., Lynch, E. D., Golbus, M. S., Bird, T. D., King, M. C., Anderson, L. A., Hall, J., Wiegant, J., Jiang, Z., Dazin, P. F., Punnett, H. H., Schonberg, S. A., Moore, K., Shull, M. M., Gendler, S., Hurko, O., Lovelace, R. E., Latov, N., Trofatter, J., Conneally, P. M.
|
|
<strong>Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc-gamma receptor gene region.</strong>
|
|
Hum. Genet. 88: 1-12, 1991. Note: Erratum: Hum. Genet. 91: 301 only, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1683643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00204921" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Lebo1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Dyck, P. J., Chance, P. F., King, M. C., Lynch, E., Redila-Flores, M., Golbus, M. S., Anderson, L. A., Christian, C. C., Flandermeyer, R. R., van der Ploeg, M., Weigant, J., and 28 others.
|
|
<strong>Chromosome 1 Charcot-Marie-Tooth locus in Fc-gamma-RII gene region. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A148, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Lebo1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Lynch, E. D., Wiegant, J., Moore, K., Trounstine, M., van der Ploeg, M.
|
|
<strong>Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region.</strong>
|
|
Hum. Genet. 88: 13-20, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1683644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00204922" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Littler1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Littler, W. A.
|
|
<strong>Heart block and peroneal muscular atrophy: a family study.</strong>
|
|
Quart. J. Med. 39: 431-439, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5478510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5478510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5478510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Lucas1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lucas, G. J., Forster, F. M.
|
|
<strong>Charcot-Marie-Tooth disease with associated myopathy: a report of a family.</strong>
|
|
Neurology 12: 629-636, 1962.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14467082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14467082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14467082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.12.9.629" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Macklin1926" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Macklin, M. T., Bowman, J. T.
|
|
<strong>Inheritance of peroneal atrophy.</strong>
|
|
JAMA 86: 613-617, 1926.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="McAlpine1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McAlpine, P. J.
|
|
<strong>Personal Communication.</strong>
|
|
Winnipeg, Manitoba, Canada 9/14/1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Middleton-Price1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H. R., Harding, A. E., Berciano, J., Pastor, J. M., Huson, S. M., Malcolm, S.
|
|
<strong>Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers.</strong>
|
|
Genomics 4: 192-197, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2737679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2737679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2737679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(89)90299-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Middleton-Price1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H., van den Berghe, J., Harding, A., Scott, J., Malcolm, S.
|
|
<strong>Analysis of markers on chromosome 1. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 662, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Murakami1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Murakami, T., Garcia, C. A., Reiter, L. T., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease and related inherited neuropathies.</strong>
|
|
Medicine 75: 233-250, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8862346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8862346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8862346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00005792-199609000-00001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Nakagawa1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nakagawa, M., Suehara, M., Saito, A., Takashima, H., Umehara, F., Saito, M., Kanzato, N., Matsuzaki, T., Takenaga, S., Sakoda, S., Izumo, S., Osame, M.
|
|
<strong>A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.</strong>
|
|
Neurology 52: 1271-1275, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10214757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10214757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10214757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.52.6.1271" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Naumann2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Naumann, R., Mohm, J., Reuner, U., Kroschinsky, F., Rautenstrauss, B., Ehninger, G.
|
|
<strong>Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity.</strong>
|
|
Brit. J. Haemat. 115: 323-325, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1365-2141.2001.03126.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Norstrand1958" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Norstrand, I. F., Margulies, M. E.
|
|
<strong>Peripheral neuronopathy (Charcot-Marie-Tooth disease) in association with gastrointestinal symptoms.</strong>
|
|
New York J. Med. 58: 863-867, 1958.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13517561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13517561</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13517561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="O'Connell1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Connell, P., Lathrop, G. M., Nakamura, Y., Leppert, M. L., Ardinger, R. H., Murray, J. L., Lalouel, J.-M., White, R.
|
|
<strong>Twenty-eight loci form a continuous linkage map of markers for human chromosome 1.</strong>
|
|
Genomics 4: 12-20, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2914706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2914706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2914706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(89)90308-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Oakey1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Oakey, R. J., Watson, M. L., Seldin, M. F.
|
|
<strong>Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.</strong>
|
|
Hum. Molec. Genet. 1: 613-620, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/1.8.613" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Ouvrier1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ouvrier, R. A., McLeod, J. G., Conchin, T. E.
|
|
<strong>The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.</strong>
|
|
Brain 110: 121-148, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3467805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3467805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3467805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/110.1.121" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Pareyson1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pareyson, D.
|
|
<strong>Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.</strong>
|
|
Muscle Nerve 22: 1498-1509, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10514227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10514227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10514227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Patel1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Patel, P. I., Franco, B., Cook, J., Ledbetter, D. H., Frances, S., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease, developmental delay, short stature, and dysmorphic features in a patient with an interstitial deletion of the long arm of chromosome 1 (1q23-1q25). (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A211, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Pollock1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pollock, M., Nukada, H., Kritchevsky, M.
|
|
<strong>Exacerbation of Charcot-Marie-Tooth disease in pregnancy.</strong>
|
|
Neurology 32: 1311-1314, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6890171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6890171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6890171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.32.11.1311" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Salisachs1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Salisachs, P., Lapresle, J.
|
|
<strong>Argyll-Robertson-like pupils in the neural type of Charcot-Marie-Tooth disease.</strong>
|
|
Europ. Neurol. 16: 172-175, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/615709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">615709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=615709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000114897" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Saporta2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E.
|
|
<strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong>
|
|
Ann. Neurol. 69: 22-33, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21280073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21280073</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21280073[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21280073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.22166" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Satya-Murti1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Satya-Murti, S., Cacace, A. T., Hanson, P. A.
|
|
<strong>Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy.</strong>
|
|
Ann. Neurol. 5: 445-448, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/223494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">223494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=223494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410050506" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Skre1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Skre, H.
|
|
<strong>Genetic and clinical aspects of Charcot-Marie-Tooth disease.</strong>
|
|
Clin. Genet. 6: 98-118, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4430158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4430158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4430158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb00638.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Smith2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, A. G.
|
|
<strong>Charcot-Marie-Tooth disease.</strong>
|
|
Arch. Neurol. 58: 1014-1016, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11405820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11405820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11405820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.58.6.1014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Stark1958" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stark, P.
|
|
<strong>Etude clinique et genetique d'une famille atteinte d'atrophie musculaire progressive neurale (amyotrophie de Charcot-Marie).</strong>
|
|
J. Genet. Hum. 7: 1-32, 1958.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13575796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13575796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13575796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="77" class="mim-anchor"></a>
|
|
<a id="Stebbins1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stebbins, N. B., Conneally, P. M.
|
|
<strong>Linkage of dominantly inherited Charcot Marie Tooth neuropathy to the Duffy locus in an Indiana family. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 34: 195A, 1982.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="78" class="mim-anchor"></a>
|
|
<a id="Streib1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Streib, E. W., Sun, S. F., Kimberling, W., Smith, S. A.
|
|
<strong>Hypertrophic form of peroneal muscular atrophy (PMA): unusual nerve conduction results.</strong>
|
|
Muscle Nerve 7: 32-34, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6700627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6700627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6700627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/mus.880070106" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="79" class="mim-anchor"></a>
|
|
<a id="Thomas1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thomas, P. K., Calne, D. B., Stewart, G.
|
|
<strong>Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).</strong>
|
|
Ann. Hum. Genet. 38: 111-153, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4467779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4467779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4467779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1974.tb01945.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="80" class="mim-anchor"></a>
|
|
<a id="Tooth1886" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tooth, H. H.
|
|
<strong>The Peroneal Type of Progressive Muscular Atrophy.</strong>
|
|
London: H. K. Lewis (pub.) 1886.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="81" class="mim-anchor"></a>
|
|
<a id="Umehara1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., Osame, M.
|
|
<strong>Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.</strong>
|
|
Acta Neuropath. 86: 602-608, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8310815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8310815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8310815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00294299" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="82" class="mim-anchor"></a>
|
|
<a id="Weiden1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weiden, P. L., Wright, S. E.
|
|
<strong>Vincristine neurotoxicity.</strong>
|
|
New Eng. J. Med. 286: 1369-1370, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5027400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5027400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5027400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 12/15/2011
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 5/5/2010<br>Cassandra L. Kniffin - updated : 2/5/2009<br>Cassandra L. Kniffin - updated : 6/21/2005<br>Cassandra L. Kniffin - updated : 1/27/2005<br>Cassandra L. Kniffin - updated : 5/1/2003<br>Cassandra L. Kniffin - reorganized : 4/25/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Victor A. McKusick - updated : 1/24/2002<br>Moyra Smith - Updated : 5/25/1996<br>Orest Hurko - updated : 3/22/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/16/2023
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 11/03/2022<br>ckniffin : 10/31/2022<br>alopez : 03/02/2022<br>ckniffin : 02/24/2022<br>alopez : 02/14/2022<br>ckniffin : 02/10/2022<br>alopez : 09/14/2021<br>ckniffin : 09/09/2021<br>carol : 08/14/2020<br>carol : 01/17/2019<br>alopez : 01/16/2019<br>ckniffin : 01/14/2019<br>alopez : 11/26/2012<br>carol : 12/16/2011<br>ckniffin : 12/15/2011<br>ckniffin : 12/15/2011<br>wwang : 3/31/2011<br>ckniffin : 3/16/2011<br>wwang : 9/10/2010<br>wwang : 5/11/2010<br>ckniffin : 5/5/2010<br>terry : 6/3/2009<br>joanna : 5/7/2009<br>wwang : 2/10/2009<br>ckniffin : 2/5/2009<br>wwang : 6/21/2005<br>mgross : 3/15/2005<br>tkritzer : 2/1/2005<br>ckniffin : 1/27/2005<br>ckniffin : 1/27/2005<br>ckniffin : 5/12/2004<br>tkritzer : 11/13/2003<br>ckniffin : 11/10/2003<br>ckniffin : 5/15/2003<br>carol : 5/12/2003<br>ckniffin : 5/1/2003<br>carol : 4/25/2003<br>carol : 4/25/2003<br>ckniffin : 4/25/2003<br>ckniffin : 4/24/2003<br>ckniffin : 4/23/2003<br>ckniffin : 4/10/2003<br>cwells : 1/28/2003<br>tkritzer : 1/22/2003<br>carol : 2/6/2002<br>mcapotos : 2/1/2002<br>terry : 1/24/2002<br>carol : 11/29/2001<br>alopez : 3/13/2001<br>carol : 4/12/1999<br>alopez : 7/8/1997<br>alopez : 7/3/1997<br>mark : 6/19/1996<br>terry : 6/18/1996<br>carol : 5/29/1996<br>joanna : 5/29/1996<br>mark : 5/28/1996<br>carol : 5/25/1996<br>terry : 4/15/1996<br>mark : 3/22/1996<br>terry : 3/14/1996<br>mark : 3/5/1996<br>mark : 6/11/1995<br>pfoster : 1/17/1995<br>davew : 8/16/1994<br>hurko : 7/12/1994<br>jason : 6/10/1994<br>warfield : 4/7/1994
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 118200
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY I; HMSN I<br />
|
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY IB; HMSN IB<br />
|
|
HMSN1<br />
|
|
HMSN1B<br />
|
|
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B<br />
|
|
CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY<br />
|
|
PERONEAL MUSCULAR ATROPHY<br />
|
|
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 398040009, 42986003;
|
|
|
|
|
|
<strong>ICD10CM:</strong> G60.0;
|
|
|
|
|
|
<strong>ICD9CM:</strong> 356.1;
|
|
|
|
|
|
<strong>ORPHA:</strong> 101082;
|
|
|
|
|
|
<strong>DO:</strong> 0110152;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
1q23.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Charcot-Marie-Tooth disease, type 1B
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
118200
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MPZ
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
159440
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutation in the MPZ gene (159440) on chromosome 1q23.</p><p>Mutations in the MPZ gene can cause other sensorineural neuropathies, including Dejerine-Sottas disease (145900), congenital hypomyelinating neuropathy (605253), and some forms of axonal CMT type 2 (see, e.g., 607677).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. </p><p><strong><em>Classification</em></strong></p><p>
|
|
On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). </p><p>McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (118220) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).</p><p>For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (302800), CMT2A1 (118210), CMT3 (DSS; 145900), CMT4A (214400), and CMTDIB (606482).</p><p><strong><em>Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1</em></strong></p><p>
|
|
Autosomal dominant demyelinating CMT1 is a genetically heterogeneous disorder and can be caused by mutations in different genes; see CMT1A (118220), CMT1C (601098), CMT1D (607678), CMT1E (607734), CMT1F (607734), CMT1G (618279), CMT1H (619764), CMT1I (619742), and CMT1J (620111).</p><p>See also 608236 for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In general, CMT disease is characterized by an insidious onset and slowly progressive weakness and atrophy of the distal limb muscles usually beginning in the legs and feet (especially in the peroneal compartment). As a result, patients frequently trip while walking, have foot drop, and steppage gait. As both motor and sensory nerve function are affected in CMT, other features include impaired sensation and absent or hypoactive deep tendon reflexes. Weakness in the intrinsic hand muscles may occur later. The onset of CMT is typically in the first or second decade of life, although it may be detected in infancy. Variation in clinical presentation is wide, ranging from patients with severe distal atrophy and marked hand and foot deformity to individuals whose only finding is pes cavus and minimal distal muscle weakness (Pareyson, 1999; Murakami et al., 1996). </p><p>The specific autosomal dominant demyelinating form described here is a slow nerve conduction type. In the family with Charcot-Marie-Tooth disease reported first in the lay press by Verrill and followed up by England and Denny-Brown (1952), members had sensory and trophic changes in addition to classic peroneal muscular atrophy. Norstrand and Margulies (1958) observed affected members in 3 generations. Gastrointestinal symptoms in the form of chronic diarrhea, nausea, and vomiting were striking. Autopsy showed degeneration in the lateral horn area of the spinal cord. Stark (1958) described a large affected kindred. Alajouanine et al. (1967) reported the phenomenal case of a woman who was a patient in La Salpetriere, Paris, for 64 years. The diagnosis was made by Charcot in 1891. She died at age 80 years. Argyll-Robertson pupils and blindness from optic atrophy began 40 to 50 years after onset of other signs of disease. Bradley and Aguayo (1969) described a family in which persons in 3 generations had chronic sensorineural polyneuropathy. </p><p>The observations of Dyck and Lambert (1968) made it clear that cases diagnosed as peroneal muscular atrophy on clinical grounds include more than one genetic entity. Affected persons in some families showed markedly reduced peripheral nerve conduction velocity, and nerve biopsy displayed extensive segmental demyelination combined with concentric proliferation of Schwann cells (hypertrophic neuropathy). In other families affected persons showed relatively normal peripheral nerve conduction velocity and no changes on nerve biopsy. They concluded that in the latter families the disorder was a neuronal degeneration affecting both anterior horn cells and cells in the dorsal root ganglia. Dyck and Lambert (1968) suggested the existence of at least 3 entities: (1) a 'hypertrophic' neuropathy showing segmental demyelination in the peripheral nerves with marked reduction in nerve conduction; (2) a 'neuronal' type, with axonal degeneration but normal nerve conduction; and (3) a progressive 'spinal' form with profound distal weakness and atrophy in the lower limbs with no sensory abnormality. The authors noted the clinical overlap with amyloid neuropathy, particularly of the Indiana or Rukavina type (see 176300), and with hypertrophic neuropathy of Dejerine-Sottas (145900). In a study of 17 families with autosomal dominant hereditary motor and sensory polyneuropathy, Thomas et al. (1974) pointed out the clinical overlap between Charcot-Marie-Tooth disease (peroneal muscular atrophy), Dejerine-Sottas syndrome (hereditary hypertrophic neuropathy), and Roussy-Levy syndrome (180800). They suggested 'hereditary motor and sensory polyneuropathy' as an adequate designation for this heterogeneous class. </p><p>Kloepfer and Killian (1974) described an extensive kindred with CMT in Louisiana in which 66 persons were judged to be heterozygous. Two marriages between heterozygotes produced 5 persons judged to be homozygous. These had onset of symptoms in early childhood with crippling evident by age 10. Heterozygotes were usually asymptomatic until their 20s or 30s. Two living homozygotes had severe mixed sensory and motor polyneuropathy with involvement of the facial nerves (Killian and Kloepfer, 1979). Kyphoscoliosis, thickening of peripheral nerves, and pes cavus were striking. In one, cerebrospinal fluid protein was markedly elevated and peripheral nerve biopsy was consistent with hypertrophic interstitial neuritis of Dejerine and Sottas. </p><p>Satya-Murti et al. (1979) presented evidence suggesting that the auditory nerves and spinal ganglia undergo the same pathologic process as do peripheral nerves. They referred to the condition as hereditary motor-sensory neuropathy. </p><p>Harding and Thomas (1980) confirmed division into CMT type 1 with slow conduction and CMT type 2 with normal conduction (rate in the median nerve below or above 38 meters per tenth second, respectively). They studied 228 patients (120 index cases and 108 affected relatives). Type 1 cases numbered 173 and type 2 55; 26 of the type 1 cases and 15 of the type 2 cases were sporadic. Most cases of type 1 showed autosomal dominant inheritance (39 families) but 4 probable autosomal recessive families were observed. No X-linked recessive families were found. In both types, males tended to be more severely affected, whereas affected but asymptomatic family members were more commonly female. Type 1 cases had a peak age of onset of symptoms in the first decade of life and in comparison with type 2 had a greater tendency to show weakness of the hands, upper limb tremors and ataxia, generalized tendon areflexia, and more extensive distal sensory loss, sometimes with acrodystrophic changes. Foot and spinal deformities were more frequent, probably because of the early age of onset. Nerve thickening was confined to type 1 cases. In type 2 cases, onset of symptoms was most often in the second decade. Most type 2 cases were autosomal dominant but 2 probable autosomal recessive and some sporadic cases were found. </p><p>Streib et al. (1984) described a family in which the 42-year-old proposita and her 12-year-old son were typically affected, whereas the father of the proposita was asymptomatic and had a normal neurologic examination and normal foot arches but showed slowing of nerve conduction velocities limited to the peroneal nerves. Marker testing could not exclude paternity. Davis et al. (1978) reported a somewhat similar family in which 2 sisters were severely affected clinically and had nerve conduction velocities below 20 m/sec. The mother was normal and the father was asymptomatic but had mild pes cavus, slight peroneal weakness, and slow conduction (12 m/sec) in the peroneal nerve. Conduction velocities were normal for median and ulnar nerves. These may be examples of mosaicism in the father in each of these cases. </p><p>In a kindred with presumed CMT1B because of linkage to 1q markers, Ionasescu et al. (1992) described unusually early onset (before age 3 years) and phrenic nerve involvement in the proposita, a 39-year-old woman who required nocturnal ventilator support. </p><p>Umehara et al. (1993) described a 31-year-old Japanese woman and her 5-year-old son considered to have dominant hereditary motor and sensory neuropathy with excessive myelin outfolding, or globular neuropathy. The main histologic features of the sural nerve were segmental demyelination and remyelination with moderate to marked loss of myelinated fibers, and myelin folding complex along all of the large and small myelinated fibers. The parents of the woman and all of her 8 sibs showed no neuromuscular abnormality. Insidious weakness of her legs had begun at 12 years. On examination, deep tendon reflexes were absent in both the arms and the legs. Vibration sensation was impaired in the distal part of the arms and was severely impaired in the distal part of the legs. Touch and pain sensations were normal. Nerve conduction studies showed marked slowing and absence of evoked responses of both motor and sensory nerves. The cerebrospinal fluid showed increased protein (111 mg/ml). Neither duplication nor deletion of the peripheral myelin protein-22 gene (601097) was suggested by Southern blot analysis. Globular neuropathy in 4 patients in an autosomal dominant pattern was first described by Dayan et al. (1968). </p><p>Hoff et al. (2005) compared obstetric outcomes of 108 births by 49 women with CMT to over 2 million births by mothers without CMT gathered from a Norwegian birth registry from 1967 to 2002. Patients with CMT had a higher occurrence of presentation anomalies (9.3% vs 4.5%) and postpartum bleeding (12% vs 5.8%). The rate of operative delivery was twice that of the reference group (29.6% vs 15.3%), and forceps were used 3 times as often in the CMT group (9.3% vs 2.7%). The majority of CMT cesarean sections were emergency procedures. Hoff et al. (2005) postulated that abnormal birth presentations may have reflected CMT in the fetus and that the high incidence of uterine atony in the mothers reflected CMT-mediated neuropathy of uterine adrenergic nerves. </p><p><strong><em>Charcot-Marie-Tooth Associated with Other Conditions</em></strong></p><p>
|
|
Littler (1970) described a family in which peroneal muscular atrophy was associated with heart block. Ten members of 3 generations were affected. Littler (1970) proposed at least 3 genetic explanations: 2 independently segregating dominant disorders, 2 linked genes, and pleiotropic effects of a single gene. Kay et al. (1972) studied a myocardial biopsy specimen from the proband of the family reported by Littler (1970). The ultrastructural changes were similar to those previously described in simple myocardial hypertrophy and hypertrophic obstructive cardiomyopathy (192600). These consisted of the formation of cardiac 'villi' crowded with mitochondria, enhanced micropinocytosis, and vacuolation of the subsarcolemmal cytoplasm. </p><p>In a brother and sister with type 1 CMT disease and type II diabetes mellitus, Chan et al. (1987) found diaphragmatic impairment to be severe in the sister and mild in the brother. They suggested that nerve involvement may be part of the clinical picture when diabetes mellitus is present. </p><p>Benko et al. (2008) reported an unusual case in which a 3-year-old boy had both Gaucher disease type III (231000), resulting from a homozygous mutation in the GBA gene (L444P; 606463.0001) on chromosome 1q22, and CMT1B, resulting from a homozygous mutation in the MPZ gene on chromosome 1q23.3. Additional neurologic features included pupillary abnormalities and hearing loss. Further genetic analysis showed that the father also carried the MPZ mutation and had CMT1B, and that the boy had complete paternal isodisomy of chromosome 1 with no evidence of the maternal chromosome 1. Benko et al. (2008) noted the atypical form of inheritance as well as the unique molecular mechanism of 2 concurrent mendelian disorders in this patient. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>CMT type 1 is most frequently transmitted in an autosomal dominant manner (Berger et al., 2002). </p><p>Studying 109 persons from completed sibships at risk for dominant CMT in 15 unrelated families, Bird and Kraft (1978) concluded that penetrance (as indicated by physical examination and nerve conduction) was 28% complete in the first decade and essentially complete by the middle of the third decade. The average age of onset was 12.2 years with a standard deviation of 7.3. Persons over 27 years of age at risk but with no clinical manifestations have less than 3% probability of having inherited the gene. </p><p><strong><em>Semidominant Inheritance</em></strong></p><p>
|
|
Fabrizi et al. (2006) reported an unusual Italian family with a history of consanguinity who exhibited semidominant inheritance of CMT1B due to an MPZ mutation affecting the intracellular region of the protein (D195Y; 159440.0036) that appeared to demonstrate a gene dosage effect. The proband was a 33-year-old woman with classic features of the disorder, including pes cavus with claw toes, peroneal atrophy, hypotrophy of intrinsic hand muscles, mildly ataxic gait, weakness of foot dorsiflexion, hypo/areflexia, and reduction of vibration sense with a stocking distribution. Her deceased father had pes cavus with claw toes, distal atrophy of the legs, steppage gait, weakness of foot dorsiflexion, and limb hypo/areflexia. Both were found to be homozygous for the D195Y mutation. In contrast, the 41-year-old sister and 75-year-old mother of the proband, who were both heterozygous for the mutation, showed no clinical features except for mildly decreased vibration sense in the distal legs in the mother. Neither had abnormal reflexes or foot deformities. Electrophysiologic studies showed markedly decreased NCVs in the affected proband and father (less than 30 m/s); the sister had diffuse mild slowing of NCV (44 m/s), whereas the mother had mild changes mainly in the median nerve (41 m/s). Sural nerve biopsy of the proband showed demyelination/remyelination with myelin outfoldings. Since only the homozygous individuals had an overt phenotype, Fabrizi et al. (2006) suggested that the position of the mutation in the intracellular region of MPZ, which is a rare occurrence, results in a gene dosage effect. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Saporta et al. (2011) were able to find a molecular basis for 527 (67%) of 787 patients with a clinical diagnosis of CMT. The most common CMT subtypes were CMT1A (118220) in 55%, CMT1X (302800) in 15.2%, HNPP (162500) in 9.1%, CMT1B in 8.5%, and CMT2A2 (609260) in 4.0%. All other subtypes accounted for less than 1% each. Eleven patients had more than 1 genetically identified subtype of CMT. Patients with genetically identified CMT were separable into specific groups based on age of onset and the degree of slowing of motor nerve conduction velocities. Saporta et al. (2011) concluded that combining features of the phenotype and physiology allowed for identification of patients with specific subtypes of CMT, and the authors proposed a strategy of focused genetic testing for CMT. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Bird et al. (1980) showed linkage of demyelinating autosomal dominant Charcot-Marie-Tooth disease (CMT1) to the Duffy blood group locus (Fy) on chromosome 1. Bird et al. (1982) found a maximum lod score of 2.297 at recombination fraction of 0.1. Guiloff et al. (1982) found that the combined male-female score at recombination fraction of 0.1 was 3.022. Stebbins and Conneally (1982) brought the cumulative lod score to 6.06 at theta 0.10. </p><p>By family studies using DNA markers, Chance et al. (1987) concluded that the probable limits of the CMT1 locus are 1p22-q23.</p><p>On the basis of 9 informative families, Ionasescu et al. (1987) found cosegregation consistent with linkage of CMT1 and GBA (606463), on 1q21, at a theta of about 0.10. Ionasescu et al. (1987) also found evidence of linkage of CMT1 to APOA2 (107670), on 1q21, at a theta of about 0.20. In 16 CMT1 pedigrees, Griffiths et al. (1987, 1988) found no linkage to REN (179820), on 1q32, or NGFB (162030), on 1p13. Although total lod scores excluded close linkage of CMT1 to any of the markers used, individual families showed probable linkage to Duffy, AT3 (107300), on 1q23, and/or AMY1 (104700), on 1p21. The results indicated that a CMT1 gene is located between AMY1 AT3, and that there is at least one other CMT1 gene. Chance et al. (1987) found that neither CMT1 nor Duffy blood group was tightly linked to AT3. They concluded that both loci must be close to the centromere of chromosome 1. </p><p>Patel et al. (1989) found an interstitial deletion of 1q23-q25 in a patient with Charcot-Marie-Tooth disease, developmental delay, short stature, and dysmorphic features.</p><p>Lebo et al. (1989) mapped the CMT1B gene to 1q21.1-q23.3 by spot blot analysis of sorted chromosomes, analysis of cell lines with chromosome 1 deletions, linkage analysis, and in situ hybridization. In a single extensively affected Indiana kindred, multilocus linkage analysis performed by Lebo et al. (1989) placed the CMT1B gene in the region of FCG2, the immunoglobulin G Fc receptor II locus (146790) on 1q21-q23. No recombinants were observed in 17 informative meioses (lod = 5.1 at theta = 0.00). Since FCG2 has been implicated in autoimmune disease and in the peripheral neuropathy caused by autoimmune disease, Lebo et al. (1989) raised the possibility that abnormality in this gene may be the 'cause' of CMT1B. In 2 Duffy-linked families, Lebo et al. (1991) established that the CMT1B gene is located in the 18-cM region between the AT3 gene (107300) and the Duffy/sodium-potassium ATPase (182340) loci. Lebo et al. (1991) presented a physical and genetic map of the entire chromosome 1 showing, among other things, the breakpoints of 3 reciprocal translocations and 1 interstitial deletion used to sublocalize cloned DNAs by spot blot analysis of sorted chromosomes. Linkage analysis by O'Connell et al. (1989) had established a continuous chromosome 1 sex-averaged linkage map of 464 cM. Lebo et al. (1991) refined the CMT1B genetic location from an 18-cM interval to a 6-cM interval and reduced the physical interval from 15% of chromosome 1 to 3% of chromosome 1. </p><p>Hayasaka et al. (1993) and Oakey et al. (1992) mapped the MPZ gene to 1q22-q23 in the same region as the CMT1B locus. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
|
|
In a single family of axonal CMT2 (118210), Guiloff et al. (1982) found 2 recombinants between Fy and CMT2 (out of 2 opportunities), suggesting genetic distinctness from CMT1. </p><p>Dyck et al. (1983) restudied 2 kindreds with type I hereditary motor and sensory neuropathy. One kindred showed segregation consistent with linkage, but, to their surprise, 1 large kindred did not show linkage. They suggested that the Duffy-unlinked form be called HMSN IA (118220) and the Duffy-linked form be called HMSN IB. They could demonstrate no phenotypic differences between the linked and unlinked forms. Bird et al. (1983) excluded linkage with Duffy in a large 3-generation family with HMSN I. They suggested that the form not linked to Duffy may have less severe slowing of motor nerve conduction and less prominent onion bulb changes on sural nerve biopsy. Leblhuber et al. (1986) excluded tight linkage with the Duffy locus in a family with HMSN I. In the study of Ionasescu et al. (1987), 13 families with CMT1 failed to show linkage with Duffy. </p><p>Middleton-Price et al. (1987) and Middleton-Price et al. (1989) also failed to find linkage with Fy in 12 families. They raised the question as to whether reports of linkage may be based on a selection of families that by chance show linkage, arguing that others do not because of genetic heterogeneity. They pointed out that intrafamilial variability is great so that the use of interfamilial variability as an argument for genetic heterogeneity should be viewed with caution. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 2 pedigrees with CMT type 1, Hayasaka et al. (1993) identified mutations in the MPZ gene (159440.0001). </p><p>In a family with CMT1B with focally folded myelin sheaths first reported by Umehara et al. (1993), Nakagawa et al. (1999) identified a heterozygous mutation in the MPZ gene (159440.0024). </p><p>In 2 pedigrees with a late-onset, relatively mild form of CMT1B with focally folded myelin sheaths, Fabrizi et al. (2000) identified a heterozygous mutation in the MPZ gene (159440.0023). Pathology showed a characteristic demyelinating process, but also revealed irregular myelin outfoldings and infoldings and tomacula. Fabrizi et al. (2000) noted that myelin outfoldings have been described in other autosomal dominant CMT patients with mutations in MPZ, EGR2 (129010.0004), and PMP22 (601097.0016), and that the finding is not restricted to CMT4B (see CMT4B1; 601382). </p><p>Pareyson (1999) and Berger et al. (2002) gave comprehensive reviews of the molecular cell biology of Charcot-Marie-Tooth disease. </p><p>Hisama (2005) described a 7-generation family in which multiple members were affected with a complicated neurologic phenotype including variable features of neuropathy, myotonia, and periodic paralysis. The same family had been described in the medical literature since 1934. The proband had late-onset demyelinating CMT, muscle cramping, and myotonia. His sister had hyperkalemic periodic paralysis (HYPP; 170500), and his father had severe childhood-onset CMT and periodic paralysis. Multiple other relatives had similar features of 1 or both disorders. Molecular analysis identified a missense mutation in the MPZ gene in the proband and a missense mutation in the SCN4A gene (603967.0001) in the sister; the father was deceased. Of those tested, 1 other family member had the MPZ mutation, and 4 other family members had the SCN4A mutation. Hisama (2005) commented on the unusual occurrence of 2 genetically unlinked neurologic disorders in this family and emphasized the diagnostic difficulties. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between autosomal dominant demyelinating Charcot-Marie-Tooth disease and variation in the C1ORF194 (CFAP276) gene, see 618682.0002.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Boerkoel et al. (2002) provided information on the relative frequency of mutations causing CMT or a related peripheral neuropathy. Among 153 unrelated patients with peripheral neuropathy, 79 had a 17p12 duplication (PMP22 duplication) (601097) causing CMT1A, 11 a connexin-32 (304040) mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein-22 mutation, 1 an early growth response factor-2 mutation (129010), 1 a periaxin mutation (605725), and 1 a neurofilament light chain mutation (162280), whereas none had a myotubularin-related protein-2 mutation (603557); 50 had no identifiable mutation. The NMYC downstream-regulated gene-1 (605262) and the kinesin-1B gene (605995) were not screened for mutations. Because one-third of the mutations found in this study had arisen de novo and thereby caused chronic sporadic neuropathy, Boerkoel et al. (2002) concluded that the molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. </p><p>Among 227 Japanese patients with demyelinating CMT, Abe et al. (2011) found that 20 (8.8%) carried mutations in the MPZ gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>For a history of CMT disease, see Smith (2001). </p><p>Allan (1939) noted that CMT is one of the entities that, like spastic paraplegia and retinitis pigmentosa, demonstrates variable patterns of inheritance.</p><p>The first clear descriptions of peroneal muscular atrophy were made simultaneously by Charcot and Marie (1886) and Tooth (1886). Brody and Wilkins (1967) reprinted Charcot's description. Confusion was introduced by the description of Dejerine and Sottas (1893) of hypertrophic neuropathy and the emergence, in 1926, of the concept of Roussy-Levy syndrome. A semblance of order was restored by study of nerve conduction, especially by Dyck and Lambert (1968). </p><p>Goetz (2002) pointed out that most of Charcot's neurologic work involved the aging brain and nervous system. His illustrious career was spent at the Salpetriere hospital, officially known as the Hospice de Vieillesse-Femmes, or State Hospice for the Elderly--Women's Division. Within the walls of this enormous complex, Charcot created a neurologic mecca and developed a large inpatient unit, clinical laboratories, and a comprehensive pathology service for studies of autopsy specimens. When Charcot arrived at the Salpetriere in 1862 as a new appointee in the public health system, the hospice housed primarily thousands of indigent, chronically ill women who had no other place to live, and annual mortality was approximately 25%. The interest in the patients that came with Charcot's development of the world center there, must have improved the quality of life of the patients (known as 'inmates') and probably even reduced mortality even though little could be done therapeutically for most of them. </p><p><strong><em>Mapping</em></strong></p><p>
|
|
Heimler et al. (1978) described a family in which the basal cell nevus syndrome (109400) and Charcot-Marie-Tooth disease were transmitted together through 3 generations. </p><p>Greene et al. (1980) reported 2 cases of CMT disease with malignant melanoma (155600). One was clearly a dominant form of CMT. The other patient, a male, had a brother with CMT. Although the association may have occurred by chance, the authors raised the possibility of a shared neural crest defect or genetic linkage. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Bird and Griep (1981); Chance et al. (1987); Combarros et al. (1983);
|
|
Dawidenkow (1927); Dawidenkow (1927); Dyck et al. (1963); Dyck and
|
|
Lambert (1968); Dyck (1966); Griffiths et al. (1985); Hogan-Dann et
|
|
al. (1984); Lucas and Forster (1962); Macklin and Bowman (1926);
|
|
Naumann et al. (2001); Ouvrier et al. (1987); Pollock et al. (1982);
|
|
Salisachs and Lapresle (1977); Weiden and Wright (1972)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abe, A., Numakura, C., Kijima, K., Hayashi, M., Hashimoto, T., Hayasaka, K.
|
|
<strong>Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.</strong>
|
|
J. Hum. Genet. 56: 364-368, 2011. Note: Erratum: J. Hum. Genet. 56: 751 only, 2011.
|
|
|
|
|
|
[PubMed: 21326314]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/jhg.2011.20]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Alajouanine, T., Castaigne, P., Cambier, J., Escourolle, R.
|
|
<strong>Maladie de Charcot-Marie: etude anatomo-clinique d'une observation suivie pendant 65 ans.</strong>
|
|
Presse Med. 75: 2745-2750, 1967.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Allan, W.
|
|
<strong>Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy.</strong>
|
|
Arch. Intern. Med. 63: 1123-1131, 1939.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benko, W. S., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., Sidransky, E.
|
|
<strong>Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3.</strong>
|
|
Neurology 70: 976-978, 2008.
|
|
|
|
|
|
[PubMed: 18347322]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000305963.37449.32]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berger, P., Young, P., Suter, U.
|
|
<strong>Molecular cell biology of Charcot-Marie-Tooth disease.</strong>
|
|
Neurogenetics 4: 1-15, 2002.
|
|
|
|
|
|
[PubMed: 12030326]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-002-0130-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Griep, E.
|
|
<strong>Pattern reversal visual evoked potentials: studies in Charcot-Marie-Tooth hereditary neuropathy.</strong>
|
|
Arch. Neurol. 38: 739-741, 1981.
|
|
|
|
|
|
[PubMed: 7316837]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1981.00510120039003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Kraft, G. H.
|
|
<strong>Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk.</strong>
|
|
Clin. Genet. 14: 43-49, 1978.
|
|
|
|
|
|
[PubMed: 679521]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1978.tb02059.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., Kraft, G. H.
|
|
<strong>Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).</strong>
|
|
Ann. Neurol. 14: 679-684, 1983.
|
|
|
|
|
|
[PubMed: 6651251]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410140612]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Ott, J., Giblett, E. R.
|
|
<strong>Linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 32: 99A, 1980.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bird, T. D., Ott, J., Giblett, E. R.
|
|
<strong>Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.</strong>
|
|
Am. J. Hum. Genet. 34: 388-394, 1982.
|
|
|
|
|
|
[PubMed: 6952764]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.</strong>
|
|
Ann. Neurol. 51: 190-201, 2002.
|
|
|
|
|
|
[PubMed: 11835375]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.10089]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bradley, W. G., Aguayo, A. J.
|
|
<strong>Hereditary chronic polyneuropathy: electrophysiological and pathological studies in an affected family.</strong>
|
|
J. Neurol. Sci. 9: 131-154, 1969.
|
|
|
|
|
|
[PubMed: 4185983]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(69)90065-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brody, I. A., Wilkins, R. H.
|
|
<strong>Charcot-Marie-Tooth disease.</strong>
|
|
Arch. Neurol. 17: 552-553, 1967.
|
|
|
|
|
|
[PubMed: 4293350]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1967.00470290106015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chan, C. K., Mohsenin, V., Loke, J., Virgulto, J., Sipski, M. L., Ferranti, R.
|
|
<strong>Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).</strong>
|
|
Chest 91: 567-570, 1987.
|
|
|
|
|
|
[PubMed: 3829750]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1378/chest.91.4.567]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chance, P., Dracopoli, N., Bird, T., Housman, D. E., Summar, M., Ketting, R.
|
|
<strong>Linkage relationships of Charcot-Marie-Tooth neuropathy (HMSNIb) to chromosome 1 markers. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 592, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chance, P. F., Murray, J. C., Bird, T. D., Kochin, R. S.
|
|
<strong>Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers.</strong>
|
|
Neurology 37: 325-329, 1987.
|
|
|
|
|
|
[PubMed: 3468376]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.37.2.325]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Charcot, J. M., Marie, P.
|
|
<strong>Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains.</strong>
|
|
Rev. Med. 6: 97-138, 1886.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Combarros, O., Calleja, J., Figols, J., Cabello, A., Berciano, J.
|
|
<strong>Dominantly inherited motor and sensory neuropathy type 1: genetic, clinical, electrophysiological and pathological features in four families.</strong>
|
|
J. Neurol. Sci. 61: 181-191, 1983.
|
|
|
|
|
|
[PubMed: 6315895]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(83)90004-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davis, C. J. F., Bradley, W. G., Madrid, R.
|
|
<strong>The peroneal muscular atrophy syndrome: clinical, genetic and electrophysiologic findings and classification.</strong>
|
|
J. Genet. Hum. 26: 311-349, 1978.
|
|
|
|
|
|
[PubMed: 752065]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dawidenkow, S.
|
|
<strong>Charcot-Marie type.</strong>
|
|
Z. Ges. Neurol. Psychiat. 108: 344-445, 1927.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dawidenkow, S.
|
|
<strong>Neurotic muscular atrophy of Charcot-Marie type.</strong>
|
|
Z. Ges. Neurol. Psychiat. 107: 259-320, 1927.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dayan, A. D., Graveson, G. S., Robinson, P. K., Woodhouse, M. A.
|
|
<strong>Globular neuropathy: a disorder of axons and Schwann cells.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 31: 552-560, 1968.
|
|
|
|
|
|
[PubMed: 4303801]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.31.6.552]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dejerine, J., Sottas, J.
|
|
<strong>Sur la nevrite interstitielle hypertrophique et progressive de l'enfance.</strong>
|
|
Comp. Rend. Soc. Biol. 45: 63-96, 1893.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Lambert, E. H., Mulder, D. W.
|
|
<strong>Charcot-Marie-Tooth disease: nerve conduction and clinical studies of a large kinship.</strong>
|
|
Neurology 13: 1-11, 1963.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Lambert, E. H.
|
|
<strong>Lower motor and primary sensory neuron disease with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.</strong>
|
|
Arch. Neurol. 18: 619-625, 1968.
|
|
|
|
|
|
[PubMed: 5652992]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1968.00470360041003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Lambert, E. H.
|
|
<strong>Lower motor primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuronopathies.</strong>
|
|
Arch. Neurol. 18: 603-618, 1968.
|
|
|
|
|
|
[PubMed: 4297451]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1968.00470360025002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dyck, P. J., Ott, J., Moore, S. B., Swanson, C. J., Lambert, E. H.
|
|
<strong>Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.</strong>
|
|
Mayo Clin. Proc. 58: 430-435, 1983.
|
|
|
|
|
|
[PubMed: 6865476]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dyck, P. J.
|
|
<strong>Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy.</strong>
|
|
Mayo Clin. Proc. 41: 742-774, 1966.
|
|
|
|
|
|
[PubMed: 4289252]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
England, A. C., Denny-Brown, D.
|
|
<strong>Sensory changes, and trophic disorder, in peroneal muscular atrophy (Charcot-Marie-Tooth type).</strong>
|
|
Arch. Neurol. Psychiat. 67: 1-22, 1952.
|
|
|
|
|
|
[PubMed: 14877348]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneurpsyc.1952.02320130007001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Pellegrini, M., Angiari, C., Cavallaro, T., Morini, A., Taioli, F., Cabrini, I., Orrico, D., Rizzuto, N.
|
|
<strong>Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.</strong>
|
|
Neuromusc. Disord. 16: 183-187, 2006.
|
|
|
|
|
|
[PubMed: 16488608]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.nmd.2006.01.006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabrizi, G. M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P., Rizzuto, N.
|
|
<strong>Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with ser49leu in the myelin protein zero.</strong>
|
|
Acta Neuropath. 100: 299-304, 2000.
|
|
|
|
|
|
[PubMed: 10965800]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004019900175]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goetz, C. G.
|
|
<strong>Jean-Martin Charcot and the aging brain.</strong>
|
|
Arch. Neurol. 59: 1821-1824, 2002.
|
|
|
|
|
|
[PubMed: 12433272]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.59.11.1821]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Greene, M. H., Mead, G. D., Reimer, R. R., Bergfeld, W. F., Fraumeni, J. F., Jr.
|
|
<strong>Malignant melanoma and Charcot-Marie-Tooth disease.</strong>
|
|
Am. J. Med. Genet. 5: 69-71, 1980.
|
|
|
|
|
|
[PubMed: 7395902]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320050109]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Griffiths, J. D., Stark, R. J., Ding, J. C., Cooper, I. A.
|
|
<strong>Vincristine neurotoxicity in Charcot-Marie-Tooth syndrome.</strong>
|
|
Med. J. Aust. 143: 305-306, 1985.
|
|
|
|
|
|
[PubMed: 4046919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.5694/j.1326-5377.1985.tb123018.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Griffiths, L. R., Zwi, M. B., McLeod, J. G., Nicholson, G. A.
|
|
<strong>Linkage studies on Charcot-Marie-Tooth neuropathy type 1. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 624, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Griffiths, L. R., Zwi, M. B., McLeod, J. G., Nicholson, G. A.
|
|
<strong>Chromosome 1 linkage studies in Charcot-Marie-Tooth neuropathy type 1.</strong>
|
|
Am. J. Hum. Genet. 42: 756-771, 1988.
|
|
|
|
|
|
[PubMed: 2895983]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Guiloff, R. J., Thomas, P. K., Contreras, M., Armitage, S., Schwarz, G., Sedgwick, E. M.
|
|
<strong>Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.</strong>
|
|
Ann. Hum. Genet. 46: 25-27, 1982.
|
|
|
|
|
|
[PubMed: 6954871]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1982.tb00691.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harding, A. E., Thomas, P. K.
|
|
<strong>The clinical features of hereditary motor and sensory neuropathy types I and II.</strong>
|
|
Brain 103: 259-280, 1980.
|
|
|
|
|
|
[PubMed: 7397478]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/103.2.259]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., Chance, P. F.
|
|
<strong>Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P(0) gene.</strong>
|
|
Nature Genet. 5: 31-34, 1993.
|
|
|
|
|
|
[PubMed: 7693129]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0993-31]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heimler, A., Friedman, E., Rosenthal, A.
|
|
<strong>Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.</strong>
|
|
J. Med. Genet. 15: 288-291, 1978.
|
|
|
|
|
|
[PubMed: 712760]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.15.4.288]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hisama, F. M.
|
|
<strong>Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.</strong>
|
|
Arch. Neurol. 62: 135-138, 2005.
|
|
|
|
|
|
[PubMed: 15642860]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.62.1.135]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hoff, J. M., Gilhus, N. E., Daltveit, A. K.
|
|
<strong>Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease.</strong>
|
|
Neurology 64: 459-462, 2005.
|
|
|
|
|
|
[PubMed: 15699375]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.WNL.0000150933.65709.96]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hogan-Dann, C. M., Fellmeth, W. G., McGuire, S. A., Kiley, V. A.
|
|
<strong>Polyneuropathy following vincristine therapy in two patients with Charcot-Marie-Tooth syndrome.</strong>
|
|
JAMA 252: 2862-2863, 1984.
|
|
|
|
|
|
[PubMed: 6092732]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ionasescu, V., Anderson, R., Burns, T., Searby, C., Ionasescu, R.
|
|
<strong>Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and apolipoprotein A2 (APOA2). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 633, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ionasescu, V., Ferrell, R., Murray, J., Burns, T., Ionasescu, R., Searby, C.
|
|
<strong>No linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and Duffy blood group (Fy). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 633, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ionasescu, V., Ginns, E., Burns, T., Searby, C., Ionasescu, R.
|
|
<strong>Linkage between autosomal dominant Charcot-Marie-Tooth neuropathy type 1 (CMT1) and human glucocerebrosidase (GBA). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 633, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ionasescu, V. V., Trofatter, J., Haines, J. L., Ionasescu, R., Searby, C.
|
|
<strong>Charcot-Marie-Tooth neuropathy related to chromosome 1.</strong>
|
|
Am. J. Med. Genet. 42: 728-732, 1992.
|
|
|
|
|
|
[PubMed: 1632448]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320420521]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kay, J. M., Littler, W. A., Meade, J. B.
|
|
<strong>Ultrastructure of myocardium in familial heart block and peroneal muscular atrophy.</strong>
|
|
Brit. Heart J. 34: 1081-1084, 1972.
|
|
|
|
|
|
[PubMed: 5086979]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/hrt.34.10.1081]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Killian, J. M., Kloepfer, H. W.
|
|
<strong>Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.</strong>
|
|
Ann. Neurol. 5: 515-522, 1979.
|
|
|
|
|
|
[PubMed: 475348]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410050604]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kloepfer, H. W., Killian, J. M.
|
|
<strong>Homozygous expression of a dominant gene causing peroneal muscular atrophy (Charcot-Marie-Tooth disease).</strong>
|
|
Acta Genet. Med. Gemellol. 23: 217-220, 1974.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leblhuber, F., Reisecker, F., Mayr, W. R., Deisenhammer, E.
|
|
<strong>Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT).</strong>
|
|
Acta Neurol. Scand. 74: 145-149, 1986.
|
|
|
|
|
|
[PubMed: 3022527]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1600-0404.1986.tb04641.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Chance, P. F., Dyck, P. J., Redila-Flores, M. T., Lynch, E. D., Golbus, M. S., Bird, T. D., King, M. C., Anderson, L. A., Hall, J., Wiegant, J., Jiang, Z., Dazin, P. F., Punnett, H. H., Schonberg, S. A., Moore, K., Shull, M. M., Gendler, S., Hurko, O., Lovelace, R. E., Latov, N., Trofatter, J., Conneally, P. M.
|
|
<strong>Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc-gamma receptor gene region.</strong>
|
|
Hum. Genet. 88: 1-12, 1991. Note: Erratum: Hum. Genet. 91: 301 only, 1993.
|
|
|
|
|
|
[PubMed: 1683643]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00204921]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Dyck, P. J., Chance, P. F., King, M. C., Lynch, E., Redila-Flores, M., Golbus, M. S., Anderson, L. A., Christian, C. C., Flandermeyer, R. R., van der Ploeg, M., Weigant, J., and 28 others.
|
|
<strong>Chromosome 1 Charcot-Marie-Tooth locus in Fc-gamma-RII gene region. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A148, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Lynch, E. D., Wiegant, J., Moore, K., Trounstine, M., van der Ploeg, M.
|
|
<strong>Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region.</strong>
|
|
Hum. Genet. 88: 13-20, 1991.
|
|
|
|
|
|
[PubMed: 1683644]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00204922]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Littler, W. A.
|
|
<strong>Heart block and peroneal muscular atrophy: a family study.</strong>
|
|
Quart. J. Med. 39: 431-439, 1970.
|
|
|
|
|
|
[PubMed: 5478510]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lucas, G. J., Forster, F. M.
|
|
<strong>Charcot-Marie-Tooth disease with associated myopathy: a report of a family.</strong>
|
|
Neurology 12: 629-636, 1962.
|
|
|
|
|
|
[PubMed: 14467082]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.12.9.629]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Macklin, M. T., Bowman, J. T.
|
|
<strong>Inheritance of peroneal atrophy.</strong>
|
|
JAMA 86: 613-617, 1926.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McAlpine, P. J.
|
|
<strong>Personal Communication.</strong>
|
|
Winnipeg, Manitoba, Canada 9/14/1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H. R., Harding, A. E., Berciano, J., Pastor, J. M., Huson, S. M., Malcolm, S.
|
|
<strong>Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers.</strong>
|
|
Genomics 4: 192-197, 1989.
|
|
|
|
|
|
[PubMed: 2737679]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(89)90299-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Middleton-Price, H., van den Berghe, J., Harding, A., Scott, J., Malcolm, S.
|
|
<strong>Analysis of markers on chromosome 1. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 662, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Murakami, T., Garcia, C. A., Reiter, L. T., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease and related inherited neuropathies.</strong>
|
|
Medicine 75: 233-250, 1996.
|
|
|
|
|
|
[PubMed: 8862346]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00005792-199609000-00001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakagawa, M., Suehara, M., Saito, A., Takashima, H., Umehara, F., Saito, M., Kanzato, N., Matsuzaki, T., Takenaga, S., Sakoda, S., Izumo, S., Osame, M.
|
|
<strong>A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.</strong>
|
|
Neurology 52: 1271-1275, 1999.
|
|
|
|
|
|
[PubMed: 10214757]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.52.6.1271]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Naumann, R., Mohm, J., Reuner, U., Kroschinsky, F., Rautenstrauss, B., Ehninger, G.
|
|
<strong>Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity.</strong>
|
|
Brit. J. Haemat. 115: 323-325, 2001.
|
|
|
|
|
|
[PubMed: 11703329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2141.2001.03126.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Norstrand, I. F., Margulies, M. E.
|
|
<strong>Peripheral neuronopathy (Charcot-Marie-Tooth disease) in association with gastrointestinal symptoms.</strong>
|
|
New York J. Med. 58: 863-867, 1958.
|
|
|
|
|
|
[PubMed: 13517561]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Connell, P., Lathrop, G. M., Nakamura, Y., Leppert, M. L., Ardinger, R. H., Murray, J. L., Lalouel, J.-M., White, R.
|
|
<strong>Twenty-eight loci form a continuous linkage map of markers for human chromosome 1.</strong>
|
|
Genomics 4: 12-20, 1989.
|
|
|
|
|
|
[PubMed: 2914706]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(89)90308-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Oakey, R. J., Watson, M. L., Seldin, M. F.
|
|
<strong>Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA.</strong>
|
|
Hum. Molec. Genet. 1: 613-620, 1992.
|
|
|
|
|
|
[PubMed: 1301170]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/1.8.613]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ouvrier, R. A., McLeod, J. G., Conchin, T. E.
|
|
<strong>The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.</strong>
|
|
Brain 110: 121-148, 1987.
|
|
|
|
|
|
[PubMed: 3467805]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/110.1.121]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pareyson, D.
|
|
<strong>Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.</strong>
|
|
Muscle Nerve 22: 1498-1509, 1999.
|
|
|
|
|
|
[PubMed: 10514227]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Patel, P. I., Franco, B., Cook, J., Ledbetter, D. H., Frances, S., Lupski, J. R.
|
|
<strong>Charcot-Marie-Tooth disease, developmental delay, short stature, and dysmorphic features in a patient with an interstitial deletion of the long arm of chromosome 1 (1q23-1q25). (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A211, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pollock, M., Nukada, H., Kritchevsky, M.
|
|
<strong>Exacerbation of Charcot-Marie-Tooth disease in pregnancy.</strong>
|
|
Neurology 32: 1311-1314, 1982.
|
|
|
|
|
|
[PubMed: 6890171]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.32.11.1311]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Salisachs, P., Lapresle, J.
|
|
<strong>Argyll-Robertson-like pupils in the neural type of Charcot-Marie-Tooth disease.</strong>
|
|
Europ. Neurol. 16: 172-175, 1977.
|
|
|
|
|
|
[PubMed: 615709]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000114897]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., Shy, M. E.
|
|
<strong>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.</strong>
|
|
Ann. Neurol. 69: 22-33, 2011.
|
|
|
|
|
|
[PubMed: 21280073]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.22166]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Satya-Murti, S., Cacace, A. T., Hanson, P. A.
|
|
<strong>Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy.</strong>
|
|
Ann. Neurol. 5: 445-448, 1979.
|
|
|
|
|
|
[PubMed: 223494]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410050506]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Skre, H.
|
|
<strong>Genetic and clinical aspects of Charcot-Marie-Tooth disease.</strong>
|
|
Clin. Genet. 6: 98-118, 1974.
|
|
|
|
|
|
[PubMed: 4430158]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb00638.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, A. G.
|
|
<strong>Charcot-Marie-Tooth disease.</strong>
|
|
Arch. Neurol. 58: 1014-1016, 2001.
|
|
|
|
|
|
[PubMed: 11405820]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.58.6.1014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stark, P.
|
|
<strong>Etude clinique et genetique d'une famille atteinte d'atrophie musculaire progressive neurale (amyotrophie de Charcot-Marie).</strong>
|
|
J. Genet. Hum. 7: 1-32, 1958.
|
|
|
|
|
|
[PubMed: 13575796]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stebbins, N. B., Conneally, P. M.
|
|
<strong>Linkage of dominantly inherited Charcot Marie Tooth neuropathy to the Duffy locus in an Indiana family. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 34: 195A, 1982.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Streib, E. W., Sun, S. F., Kimberling, W., Smith, S. A.
|
|
<strong>Hypertrophic form of peroneal muscular atrophy (PMA): unusual nerve conduction results.</strong>
|
|
Muscle Nerve 7: 32-34, 1984.
|
|
|
|
|
|
[PubMed: 6700627]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/mus.880070106]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thomas, P. K., Calne, D. B., Stewart, G.
|
|
<strong>Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).</strong>
|
|
Ann. Hum. Genet. 38: 111-153, 1974.
|
|
|
|
|
|
[PubMed: 4467779]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1974.tb01945.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tooth, H. H.
|
|
<strong>The Peroneal Type of Progressive Muscular Atrophy.</strong>
|
|
London: H. K. Lewis (pub.) 1886.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., Osame, M.
|
|
<strong>Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.</strong>
|
|
Acta Neuropath. 86: 602-608, 1993.
|
|
|
|
|
|
[PubMed: 8310815]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00294299]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weiden, P. L., Wright, S. E.
|
|
<strong>Vincristine neurotoxicity.</strong>
|
|
New Eng. J. Med. 286: 1369-1370, 1972.
|
|
|
|
|
|
[PubMed: 5027400]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 12/15/2011<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 5/5/2010<br>Cassandra L. Kniffin - updated : 2/5/2009<br>Cassandra L. Kniffin - updated : 6/21/2005<br>Cassandra L. Kniffin - updated : 1/27/2005<br>Cassandra L. Kniffin - updated : 5/1/2003<br>Cassandra L. Kniffin - reorganized : 4/25/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Victor A. McKusick - updated : 1/24/2002<br>Moyra Smith - Updated : 5/25/1996<br>Orest Hurko - updated : 3/22/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/16/2023<br>alopez : 11/03/2022<br>ckniffin : 10/31/2022<br>alopez : 03/02/2022<br>ckniffin : 02/24/2022<br>alopez : 02/14/2022<br>ckniffin : 02/10/2022<br>alopez : 09/14/2021<br>ckniffin : 09/09/2021<br>carol : 08/14/2020<br>carol : 01/17/2019<br>alopez : 01/16/2019<br>ckniffin : 01/14/2019<br>alopez : 11/26/2012<br>carol : 12/16/2011<br>ckniffin : 12/15/2011<br>ckniffin : 12/15/2011<br>wwang : 3/31/2011<br>ckniffin : 3/16/2011<br>wwang : 9/10/2010<br>wwang : 5/11/2010<br>ckniffin : 5/5/2010<br>terry : 6/3/2009<br>joanna : 5/7/2009<br>wwang : 2/10/2009<br>ckniffin : 2/5/2009<br>wwang : 6/21/2005<br>mgross : 3/15/2005<br>tkritzer : 2/1/2005<br>ckniffin : 1/27/2005<br>ckniffin : 1/27/2005<br>ckniffin : 5/12/2004<br>tkritzer : 11/13/2003<br>ckniffin : 11/10/2003<br>ckniffin : 5/15/2003<br>carol : 5/12/2003<br>ckniffin : 5/1/2003<br>carol : 4/25/2003<br>carol : 4/25/2003<br>ckniffin : 4/25/2003<br>ckniffin : 4/24/2003<br>ckniffin : 4/23/2003<br>ckniffin : 4/10/2003<br>cwells : 1/28/2003<br>tkritzer : 1/22/2003<br>carol : 2/6/2002<br>mcapotos : 2/1/2002<br>terry : 1/24/2002<br>carol : 11/29/2001<br>alopez : 3/13/2001<br>carol : 4/12/1999<br>alopez : 7/8/1997<br>alopez : 7/3/1997<br>mark : 6/19/1996<br>terry : 6/18/1996<br>carol : 5/29/1996<br>joanna : 5/29/1996<br>mark : 5/28/1996<br>carol : 5/25/1996<br>terry : 4/15/1996<br>mark : 3/22/1996<br>terry : 3/14/1996<br>mark : 3/5/1996<br>mark : 6/11/1995<br>pfoster : 1/17/1995<br>davew : 8/16/1994<br>hurko : 7/12/1994<br>jason : 6/10/1994<br>warfield : 4/7/1994
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 13, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|