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Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

BMC neurology - 18 May 2017

Kytövuori Laura, Kärppä Mikko, Tuominen Hannu, Uusimaa Johanna, Saari Markku, Hinttala Reetta, Majamaa Kari

Abstract excerpt

BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise...

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Share to Cytochrome-c Oxidase Deficiency
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex IV

Share to Frameshift Mutation

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Identifiers

PMID: 28521807
DOI: 10.1186/s12883-017-0883-5
PMCID: PMC5437394

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