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Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1

Title
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1
Authors
Hong Y.B.Park J.-M.Yu J.S.Yoo D.H.Nam D.E.Park H.J.Lee J.-S.Hwang S.H.Chung K.W.Choi B.-O.
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2017
Journal Title
Journal of the Peripheral Nervous System
ISSN
1085-9489JCR Link
Citation
vol. 22, no. 3, pp. 172 - 181
Keywords
Charcot-Marie-Tooth disease (CMT)CMTX1gap junction protein beta 1 (GJB1)Korean
Publisher
Blackwell Publishing Inc.
Indexed
SCIE; SCOPUS WOS scopus
Abstract
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed. The frequency of CMTX1 was 9.6% of total Korean CMT family and was 14.8% when calculated within genetically identified cases. Among 67 male and 61 female patients, 22 females were asymptomatic. A high-arched foot, ataxia, and tremor were observed in 87%, 41%, and 35% of the patients, respectively. In the male patients, functional disability scale, CMT neuropathy score, and compound muscle action potential of the median/ulnar nerves were more severely affected than in the female patients. This study provides a comprehensive summary of the clinical features and spectrum of GJB1 gene mutations in Korean CMTX1 patients. © 2017 Peripheral Nerve Society
DOI
10.1111/jns.12217
Appears in Collections:
의료원 > 의료원 > Journal papers
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