Abstract
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
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Alkyl and Aryl Transferases / genetics
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Base Sequence
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Cardiomyopathies / genetics*
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Cardiomyopathies / pathology
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Carrier Proteins / genetics*
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Consanguinity
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Electron Transport
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Electron Transport Complex IV
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Fatal Outcome
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Female
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Humans
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Infant, Newborn
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Male
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Membrane Proteins / genetics
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Mitochondrial Encephalomyopathies / genetics*
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Mitochondrial Encephalomyopathies / pathology
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Mitochondrial Proteins / genetics*
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Molecular Chaperones
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Molecular Sequence Data
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Muscle, Skeletal / pathology
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Mutation*
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Pedigree
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Sequence Homology, Nucleic Acid
Substances
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Carrier Proteins
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Membrane Proteins
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Mitochondrial Proteins
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Molecular Chaperones
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SCO1 protein, human
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SCO2 protein, human
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Surf-1 protein
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COX10 protein, human
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Electron Transport Complex IV
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Alkyl and Aryl Transferases