학술논문
Two novel MPZ mutations in Chinese CMT patients.
Document Type
Article
Author
Source
Subject
*CHARCOT-Marie-Tooth disease
*CHINESE people
*GLYCOPROTEINS
*GENETIC mutation
*RESEARCH funding
*PHENOTYPES
*DESCRIPTIVE statistics
*SEQUENCE analysis
*GENETICS
*
*
*
*
*
*
*
*
Language
ISSN
1085-9489
Abstract
To investigate the myelin protein zero ( MPZ) gene mutation and related clinical features in Chinese Charcot-Marie-Tooth (CMT) patients, we screened the coding sequence of MPZ in 70 unrelated CMT index patients after excluding the PMP22 duplication, Cx32 and MFN2 mutations. We found four different missense mutations: c. 194C>T, c. 242A>T, c. 371C>T, and c. 419C>G. The frequency of MPZ mutation was approximately 4.35% of the total, 3.08% of CMT1, and 6% of CMT2. Mutations c. 242A>T and c. 419C>G are novel. The mutation c. 242A>T exhibited late onset and rapidly progressive CMT2 phenotype. The mutation c. 419C>G exhibited relatively late onset and slowly progressive CMT1 phenotype. [ABSTRACT FROM AUTHOR]