We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
- Authors
Hong, Young B.; Park, Jin‐Mo; Yu, Jin S.; Yoo, Da H.; Nam, Da E.; Park, Hyung J.; Lee, Ji‐Su; Hwang, Sun H.; Chung, Ki W.; Choi, Byung‐Ok
- 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.
- Subjects
KOREA; ATAXIA; CELL communication; CHARCOT-Marie-Tooth disease; CHI-squared test; STATISTICAL correlation; CYTOGENETICS; DEMYELINATION; ELECTROPHYSIOLOGY; FISHER exact test; GENETIC counseling; GENETIC disorders; MEDICAL care; GENETIC mutation; PATIENTS; PROTEINS; RESEARCH funding; T-test (Statistics); TREMOR; DATA analysis software; DESCRIPTIVE statistics; MANN Whitney U Test; KRUSKAL-Wallis Test; SYMPTOMS; DIAGNOSIS
- Publication
Journal of the Peripheral Nervous System, 2017, Vol 22, Issue 3, p172
- ISSN
1085-9489
- Publication type
Article
- DOI
10.1111/jns.12217