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- Title
Two novel MPZ mutations in Chinese CMT patients.
- Authors
Liu, Lei; Li, Xiaobo; Zi, Xiaohong; Huang, Shunxiang; Zhan, Yajing; Jiang, Mingming; Guo, Jifeng; Xia, Kun; Tang, Beisha; Zhang, Ruxu
- 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.
- Subjects
CHARCOT-Marie-Tooth disease; CHINESE people; GLYCOPROTEINS; GENETIC mutation; RESEARCH funding; PHENOTYPES; DESCRIPTIVE statistics; SEQUENCE analysis; GENETICS
- Publication
Journal of the Peripheral Nervous System, 2013, Vol 18, Issue 3, p256
- ISSN
1085-9489
- Publication type
Article
- DOI
10.1111/jns5.12040