[Genetic variant analysis in patients with autosomal recessive demyelinating Charcot-Marie-Tooth disease].

PubMed 2026

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Authors: B Sun, T J Li, Z H Chen, Lynn Chua Ting Ling, H M Cheng, X S Huang, H F Wang
DOI: 10.3760/cma.j.cn112138-20250917-00552
Cited by: 0

Abstract

AR-CMT1/CMT4 is a rare subtype of CMT. This study identified previously unreported mutations in SBF2 and FIG4 through genetic analysis of clinically diagnosed CMT patients, expanding the genetic spectrum of CMT in the Chinese population.

Publication details

Journal / source
PubMed
Volume
65
Issue
1
Pages
78–84
Publication date
1 January 2026
Language
ZH