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Article

Phenotypic consequences of a novel SCO2 gene mutation.

American journal of medical genetics. Part A - 1 Nov 2008

Verdijk Rob M, de Krijger Ronald, Schoonderwoerd Kees, Tiranti Valeria, Smeets Hubert, Govaerts Lutgarde C P, de Coo René

Abstract excerpt

SCO2 is a cytochrome c oxidase (COX) assembly gene. Mutations in the SCO2 gene have been associated with fatal infantile cardioencephalomyopathy. We report on the phenotype of a novel SCO2 mutation in two siblings with fatal infantile cardioencephalomyopathy. The index patient died of heart failure at 25 days of age. Muscle biopsy was performed for histology and biochemical study of the oxidative phosphorylation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18924171
DOI: 10.1002/ajmg.a.32523

Genes

SCO2

Variants

Provenance

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