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Article

A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.

European journal of neurology - 1 Dec 2017

Hu B, Wang M, Castoro R, Simmons M, Dortch R, Yawn R, Li J

Abstract excerpt

BACKGROUND AND PURPOSE: Apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) in mitochondria has captured a great deal of attention due to its well-described function in apoptosis. Mutations in AIFM1 have resulted in multiple clinical phenotypes, including X-linked Charcot-Marie-Tooth disease type 4. These syndromes usually involve multiple locations within the nervous system and/or multiple organs. This...

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Source

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Identifiers

PMID: 28888069
DOI: 10.1111/ene.13452
PMCID: PMC5693754

Genes

AIFM1

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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