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Article

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.

Journal of the peripheral nervous system : JPNS - 1 Jun 2024

Li Zhongzheng, Zeng Sen, Xie Yongzhi, Li Xiaobo, Huang Shunxiang, Zhao Huadong, Cao Wanqian, Liu Lei, Wang Mengli, Gong Qiaoyu, Liu Jun, Rong Pengfei, Zhang Ruxu

Abstract excerpt

BACKGROUND AND AIMS: Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause axonal or demyelinating Charcot-Marie-Tooth disease (CMT) with autosomal dominant or recessive inheritance. In this study, we aim to report the genotypic and phenotypic features of GDAP1-related CMT in a Chinese cohort. METHODS: Clinical, neurophysiological, genetic data, and available muscle/brain imaging...

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Source

Identifiers

PMID: 38705839
DOI: 10.1111/jns.12628

Genes

GDAP1
AR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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