title: Deficiency of respiratory chain complex I is a common cause of Leigh disease.
abstract: We reviewed the clinical features and etiologies of Leigh disease in 66 patients from 60 pedigrees. Biochemical or molecular defects were identified in 50% of all pedigrees, and in 74% of the 19 pedigrees with pathologically proved Leigh disease. Isolated deficiency of respiratory chain complex I was found in 7 patients, though the complex was only assayed in 25 patients, making this the second most common biochemical abnormality after complex IV deficiency. Mutations at residue 8993 of mitochondrial DNA were found in only 2 patients. No correlation was found between the clinical features and etiologies. No defects were identified in the 8 patients with normal lactate concentrations in the cerebrospinal fluid.
authors.affiliation: Institute of Child Health, London, United Kingdom.
authors.forename: A A
authors.initials: AA
authors.lastname: Morris
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
authors.forename: S K
authors.initials: SK
authors.lastname: Bidouki
authors.forename: L A
authors.initials: LA
authors.lastname: Bindoff
authors.forename: C E
authors.initials: CE
authors.lastname: Woodward
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
authors.forename: B D
authors.initials: BD
authors.lastname: Lake
authors.forename: B N
authors.initials: BN
authors.lastname: Harding
authors.forename: M A
authors.initials: MA
authors.lastname: Farrell
authors.forename: J E
authors.initials: JE
authors.lastname: Bell
authors.forename: M
authors.initials: M
authors.lastname: Mirakhur
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D015139:Blotting, Southern; D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000737:chemistry; D004579:Electron Transport; D003576:Electron Transport Complex IV / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry; D017354:Point Mutation; D011768:Pyruvate Dehydrogenase Complex / Q000032:analysis
chemical_list: D004272:DNA, Mitochondrial; D011768:Pyruvate Dehydrogenase Complex; D003576:Electron Transport Complex IV