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Article

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.

Cold Spring Harbor molecular case studies - 1 Jun 2021

Moss Tonya, May Melanie, Flanagan-Steet Heather, Caylor Raymond, Jiang Yong-Hui, McDonald Marie, Friez Michael, McConkie-Rosell Allyn, Steet Richard

Abstract excerpt

Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. AIFM1 encodes a mitochondrial flavin adenine dinucleotide (FAD)-dependent nicotinamide adenine dinucleotide (NADH) oxidoreductase, with roles in the regulation of...

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Identifiers

PMID: 34117073
DOI: 10.1101/mcs.a006081
PMCID: PMC8208043

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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