Richard Dortch
Last active: 10/24/2018

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

Hu B, Wang M, Castoro R, Simmons M, Dortch R, Yawn R, Li J
Eur J Neurol. 2017 24 (12): 1499-1506

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

MeSH Terms (9)

Apoptosis Inducing Factor Charcot-Marie-Tooth Disease Female Humans Male Mitochondria Mutation, Missense Pedigree Phenotype

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