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Article

Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.

Journal of neurology - 1 Mar 2018

Pakhrin Pukar Singh, Xie Yongzhi, Hu Zhengmao, Li Xiaobo, Liu Lei, Huang Shunxiang, Wang Binghao, Yang Zihan, Zhang Jiejun, Liu Xin, Xia Kun, Tang Beisha, Zhang Ruxu

Abstract excerpt

Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) have been associated with both subtypes of Charcot-Marie-Tooth (CMT) disease, autosomal recessive (CMT4A and AR-CMT2K) and autosomal dominant (AD-CMT2K). Over 80 different mutations have been identified so far. With the use of Sanger sequencing and Next Generation Sequencing (NGS) technologies, we screened a cohort of 306 unrelated...

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Identifiers

PMID: 29372391
DOI: 10.1007/s00415-018-8743-9

Genes

GDAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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