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Article

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

European journal of human genetics : EJHG - 1 Mar 2016

Diodato Daria, Tasca Giorgio, Verrigni Daniela, D'Amico Adele, Rizza Teresa, Tozzi Giulia, Martinelli Diego, Verardo Margherita, Invernizzi Federica, Nasca Alessia, Bellacchio Emanuele, Ghezzi Daniele, Piemonte Fiorella, Dionisi-Vici Carlo, Carrozzo Rosalba, Bertini Enrico

Abstract excerpt

AIFM1 is a gene located on the X chromosome, coding for AIF (Apoptosis-Inducing Factor), a mitochondrial flavoprotein involved in caspase-independent cell death. AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal...

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Source

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Identifiers

PMID: 26173962
DOI: 10.1038/ejhg.2015.141
PMCID: PMC4755377

Genes

AIFM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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