title: [Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].
abstract: Charcot-Marie-Tooth type X disease (CMTX) is the second most frequent inherited neuropathy, after CMT1A type associated with 17p11.2-p12 duplication. CMTX is inherited as X dominant trait and is caused by point mutations in Cx32 gene. In the study the first Polish group of 11 patients with CMTX from 4 families is presented. The following four mutations were found in Cx32 gene: Gly110Asp, Val 152 Asp, Arg 183 His and Glu 208 Gly. CMTX is characterized by X dominant trait of inheritance, a mild clinical course in affected females and slowly progressive atrophy and weakness of distal limb muscles. Both electrophysiological and sural nerve biopsy studies show axonal changes with secondary demyelination.
authors.affiliation: Zespołu Badawczo-Leczniczego Chorób Nerwowo Mieśniowych Instytutu Centrum Medycyny Doświadczalnej i Klinicznej Polskiej Akademii Nauk, Kliniki Neurologicznej A.M. w Warszawie.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
authors.forename: Barbara
authors.initials: B
authors.lastname: Ryniewicz
authors.forename: Hanna
authors.initials: H
authors.lastname: Jedrzejowska
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
mesh_terms: D001284:Atrophy / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013497:Sural Nerve / Q000473:pathology; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein
vernacular_title: Choroba Charcot-Marie-Tooth typu X--charakterystyka kliniczno-genetyczna jedenastu chorych.