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Article

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

American journal of human genetics - 9 Apr 2010

Ghezzi Daniele, Sevrioukova Irina, Invernizzi Federica, Lamperti Costanza, Mora Marina, D'Adamo Pio, Novara Francesca, Zuffardi Orsetta, Uziel Graziella, Zeviani Massimo

Abstract excerpt

We investigated two male infant patients who were given a diagnosis of progressive mitochondrial encephalomyopathy on the basis of clinical, biochemical, and morphological features. These patients were born from monozygotic twin sisters and unrelated fathers, suggesting an X-linked trait. Fibroblasts from both showed reduction of respiratory chain (RC) cIII and cIV, but not of cI activities. We found a...

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Source

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Identifiers

PMID: 20362274
DOI: 10.1016/j.ajhg.2010.03.002
PMCID: PMC2850437

Genes

AIFM1

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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