Hu B, Wang M, Castoro R, Simmons M, Dortch R, Yawn R, Li J. A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. European journal of neurology. 2017 Dec;24(24). 1499-1506. PMID: 28888069 [PubMed] PMCID: PMC5693754 NIHMSID: NIHMS905211.
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 study describes a novel missense mutation in AIFM1 and its associated peripheral nerve disease.