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

Mobley BC, Enns GM, Wong LJ, Vogel H
Clin Neuropathol. 2009 28 (2): 143-9

PMID: 19353847 · DOI:10.5414/npp28143

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, we describe a novel homozygous SCO2 mutation p.G193S in a patient with fatal infantile cardioencephalomyopathy born to consanguineous parents of Indian ancestry.

MeSH Terms (20)

Alkyl and Aryl Transferases Base Sequence Cardiomyopathies Carrier Proteins Consanguinity Electron Transport Electron Transport Complex IV Fatal Outcome Female Humans Infant, Newborn Male Membrane Proteins Mitochondrial Encephalomyopathies Mitochondrial Proteins Molecular Sequence Data Muscle, Skeletal Mutation Pedigree Sequence Homology, Nucleic Acid

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