title: A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.
abstract: We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle. Sequencing of all the mitochondrial transfer RNA (tRNA) genes identified a single potentially pathogenic mutation--a T to C transition at position 4274 in the tRNA(Ile) gene. This mutation was not present in skeletal muscle from 79 controls, and the level of the mutation in COX-negative fibers was significantly greater than the level in COX-positive fibers.
authors.affiliation: Department of Neurology, University of Newcastle upon Tyne, UK.
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: M A
authors.initials: MA
authors.lastname: Johnson
authors.forename: R W
authors.initials: RW
authors.lastname: Taylor
authors.forename: W F
authors.initials: WF
authors.lastname: Durward
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D000328:Adult; D002908:Chronic Disease; D030401:Cytochrome-c Oxidase Deficiency; D018450:Disease Progression; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D018485:Muscle Fibers, Skeletal / Q000201:enzymology; D018482:Muscle, Skeletal / Q000201:enzymology; D009886:Ophthalmoplegia / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology*; D017354:Point Mutation; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012343:RNA, Transfer / Q000235:genetics*
chemical_list: D000077278:RNA, Mitochondrial; D007532:Isoleucine; D012313:RNA; D012343:RNA, Transfer; D003576:Electron Transport Complex IV