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Article

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Human mutation - 1 Oct 2013

Leary Scot C, Antonicka Hana, Sasarman Florin, Weraarpachai Woranontee, Cobine Paul A, Pan Min, Brown Garry K, Brown Ruth, Majewski Jacek, Ha Kevin C H, Rahman Shamima, Shoubridge Eric A

Abstract excerpt

Isolated cytochrome c oxidase (COX) deficiency is a common cause of mitochondrial disease, yet its genetic basis remains unresolved in many patients. Here, we identified novel compound heterozygous mutations in SCO1 (p.M294V, p.Val93*) in one such patient with fatal encephalopathy. The patient lacked the severe hepatopathy (p.P174L) or hypertrophic cardiomyopathy (p.G132S) observed in previously reported SCO1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23878101
DOI: 10.1002/humu.22385

Genes

SCO1

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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