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Article

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.

APMIS : acta pathologica, microbiologica, et immunologica Scandinavica - 1 Jan 2008

Vesela Katerina, Hulkova Helena, Hansikova Hana, Zeman Jiri, Elleder Milan

Abstract excerpt

Structural and histochemical studies carried out in a series of seven cases (from five families) with isolated cytochrome c oxidase (COX) deficiency caused by mutations in the SCO2 gene (1, 2) disclosed changes concentrated in the nervous system, skeletal muscle and myocardium. In five patients homozygous for the E140K mutation, the phenotype was predominantly neuromuscular and the average life span ranged...

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Identifiers

PMID: 18254779
DOI: 10.1111/j.1600-0463.2008.00772.x

Genes

SCO2

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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