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Article

A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.

Neuromuscular disorders : NMD - 1 Aug 2018

Wang Binghao, Li Xiaobo, Wang Junpu, Liu Lei, Xie Yongzhi, Huang Shunxiang, Pakhrin Pukar Singh, Jin Qingwen, Zhu Chunmei, Tang Beisha, Niu Qi, Zhang Ruxu

Abstract excerpt

X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and cognitive impairment, is a rare subtype of Charcot-Marie-Tooth disease. Here, we report a novel missense variant of AIFM1 in a X-linked recessive Chinese family with childhood-onset, slowly progressive, isolated axonal motor and sensory neuropathy....

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Source

Identifiers

PMID: 30031633
DOI: 10.1016/j.nmd.2018.05.008

Genes

AIFM1

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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