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Article

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

Human molecular genetics - 22 Mar 2000

Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser H G, Gerbitz K D, Shoubridge E A

Abstract excerpt

Mutations in SCO2, a cytochrome c oxidase (COX) assembly gene located on chromosome 22, have recently been reported in patients with fatal infantile cardio-encephalomyopathy and severe COX deficiency in heart and skeletal muscle. The Sco2 protein is thought to function as a copper chaperone. To i...

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Source

Identifiers

PMID: 10749987
DOI: 10.1093/hmg/9.5.795

Genes

SCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10749987-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.PMID 10749987Read ↗

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