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Article

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

American journal of human genetics - 1 Sept 2008

Ghezzi Daniele, Saada Ann, D'Adamo Pio, Fernandez-Vizarra Erika, Gasparini Paolo, Tiranti Valeria, Elpeleg Orly, Zeviani Massimo

Abstract excerpt

In two siblings we found a mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy, and low cytochrome c oxidase (COX) activity in skeletal muscle. The disease locus was identified on chromosome 2 by homozygosity mapping; candidate genes were prioritized for their known or predicted mitochondrial localization and then sequenced in probands and...

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Identifiers

PMID: 18771761
DOI: 10.1016/j.ajhg.2008.08.009
PMCID: PMC2556431

Genes

FASTKD2

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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