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May 5, 2024Journal of the Peripheral Nervous System

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

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

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Abstract

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.

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Cite This Study

Li et al. (2024) studied this question.

synapsesocial.com/papers/68e6b7fcb6db643587639007 https://doi.org/10.1111/jns.12628

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