Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.

ABSTRACT:

Background

Charcot-Marie-Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT is usually classified into three types, demyelinating, axonal, and intermediate neuropathies. Mutations in myelin protein zero (MPZ) gene which encodes a transmembrane protein of the Schwann cells as a major component of peripheral myelin have been reported to cause various type of CMT.

Methods

This study screened MPZ mutations in Korean CMT patients (1,121 families) by whole exome sequencing and targeted sequencing.

Results

We identified 22 pathogenic or likely pathogenic MPZ mutations in 36 families as the underlying cause of the CMT1B, CMTDID, or CMT2I subtypes. Among them, five mutations were no

SUBMITTER: Kim HJ 

PROVIDER: S-EPMC8222852 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature