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Article

A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jul 2018

Chen Bin, Niu Songtao, Chen Na, Pan Hua, Wang Xingao, Zhang Zaiqiang

Abstract excerpt

Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb...

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Identifiers

PMID: 29724652
DOI: 10.1016/j.jocn.2018.04.024

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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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