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Article

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

Clinical neuropathology - 1 Jan 2000

Mobley B C, Enns G M, Wong L-J, Vogel H

Abstract excerpt

Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochondrial disease in infants. Mutations in the COX assembly gene SCO2 cause fatal infantile cardioencephalomyopathy. All patients reported to date with SCO2 deficiency share a common p.E140K mutation in at least 1 allele. In order to further the understanding of the genotype-phenotype spectrum associated with fatal infantile cardioencephalomyopathy,...

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Source

Identifiers

PMID: 19353847
DOI: 10.5414/npp28143

Genes

SCO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.PMID 19353847Read ↗

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