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Article

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 2007

Knuf M, Faber J, Huth R G, Freisinger P, Zepp F, Kampmann C

Abstract excerpt

UNLABELLED: Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial...

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Source

Identifiers

PMID: 17187620
DOI: 10.1111/j.1651-2227.2007.00008.x

Genes

SCO2

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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Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.PMID 17187620Read ↗

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