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Article

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

European journal of human genetics : EJHG - 1 Jul 2015

Oláhová Monika, Haack Tobias B, Alston Charlotte L, Houghton Jessica Ac, He Langping, Morris Andrew Am, Brown Garry K, McFarland Robert, Chrzanowska-Lightowlers Zofia Ma, Lightowlers Robert N, Prokisch Holger, Taylor Robert W

Abstract excerpt

Isolated mitochondrial complex IV (cytochrome c oxidase) deficiency is an important cause of mitochondrial disease in children and adults. It is genetically heterogeneous, given that both mtDNA-encoded and nuclear-encoded gene products contribute to structural components and assembly factors. Pathogenic variants within these proteins are associated with clinical variability ranging from isolated organ involvement...

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Identifiers

PMID: 25293719
DOI: 10.1038/ejhg.2014.214
PMCID: PMC4305338

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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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