[Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].
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.
Kochański
Andrzej
A
Zespołu Badawczo-Leczniczego Chorób Nerwowo Mieśniowych Instytutu Centrum Medycyny Doświadczalnej i Klinicznej Polskiej Akademii Nauk, Kliniki Neurologicznej A.M. w Warszawie.
Ryniewicz
Barbara
B
Jedrzejowska
Hanna
H
Kabzińska
Dagmara
D
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
D017630:Connexins; D000097002:Gap Junction beta-1 Protein
Choroba Charcot-Marie-Tooth typu X--charakterystyka kliniczno-genetyczna jedenastu chorych.