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Article

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.

Archives of neurology - 1 Jun 2004

Tay Stacey K H, Shanske Sara, Kaplan Paige, DiMauro Salvatore

Abstract excerpt

BACKGROUND: SCO2 is a cytochrome c oxidase (COX) assembly gene that encodes a mitochondrial inner membrane protein that probably functions as a copper transporter. Mutations in SCO2 have been associated with severe COX deficiency and early-onset fatal infantile hypertrophic cardiomyopathy, encephalopathy, and neurogenic muscle atrophy. Fetal wastage has not been described in association with mutations of SCO2....

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Source

Identifiers

PMID: 15210538
DOI: 10.1001/archneur.61.6.950

Genes

SCO2

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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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Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.PMID 15210538Read ↗

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