title: The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
abstract: Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency.
authors.affiliation: Nijmegen Centre for Mitochondrial Disorder, Radboud University Nijmegen Medical Centre, The Netherlands.
authors.forename: M J H
authors.initials: MJ
authors.lastname: Coenen
authors.forename: J A M
authors.initials: JA
authors.lastname: Smeitink
authors.forename: M H
authors.initials: MH
authors.lastname: Farhoud
authors.forename: L G J
authors.initials: LG
authors.lastname: Nijtmans
authors.forename: R
authors.initials: R
authors.lastname: Rodenburg
authors.forename: A
authors.initials: A
authors.lastname: Janssen
authors.forename: E P M
authors.initials: EP
authors.lastname: van Kaauwen
authors.forename: F J M
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
mesh_terms: D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy*; D004252:DNA Mutational Analysis; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics*; D008099:Liver / Q000201:enzymology; D009154:Mutation; D010766:Phosphorylation