Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

ABSTRACT:

Objective

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of inherited neuropathies. Mutations in more than 90 genes have been implicated in CMT; however, the mutational spectrum of CMT in Chinese population remains obscure. This study aims to provide a comprehensive overview of the frequency of mutations in Taiwanese patients with CMT and look for genotype-phenotype correlations.

Methods

Mutational analyses were performed on 427 unrelated Taiwanese patients with CMT by polymorphic microsatellite markers analysis or real-time fluorescent PCR for PMP22 duplication, Sanger sequencing for GJB1 mutations, and targeted sequencing covering 124 genes causing or relevant to inherited neuropathies. We also correlated the genotypes w

SUBMITTER: Hsu YH 

PROVIDER: S-EPMC6562034 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature