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Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Acta neurologica Belgica - 1 Oct 2022

Sun Bo, He Zheng-Qing, Li Yan-Ran, Bai Jiong-Ming, Wang Hao-Ran, Wang Hong-Fen, Cui Fang, Yang Fei, Huang Xu-Sheng

Abstract excerpt

Mutations in the SH3TC2 gene cause Charcot-Marie-Tooth disease type 4C (CMT4C), characterized by inherited demyelinating peripheral neuropathy. CMT4C is a common form of CMT4/autosomal recessive (AR) CMT1. This study examined the SH3TC2 variants, investigated genotype-phenotype correlations and explored the frequency of CMT4C in Chinese patients. A total of 206 unrelated patients of Chinese Han descent clinically...

Topics

Charcot-Marie-Tooth Disease
China
Female
Humans
Intracellular Signaling Peptides and Proteins
Male
Mutation
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33587240
DOI: 10.1007/s13760-021-01605-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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