title: Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.
abstract: We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic.
authors.affiliation: Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland. killian.orourke@gmail.com
authors.forename: Killian
authors.initials: K
authors.lastname: O'Rourke
authors.forename: Mark R
authors.initials: MR
authors.lastname: Buddles
authors.forename: Michael
authors.initials: M
authors.lastname: Farrell
authors.forename: Rachel
authors.initials: R
authors.lastname: Howley
authors.forename: Sunita
authors.initials: S
authors.lastname: Sukuraman
authors.forename: Sean
authors.initials: S
authors.lastname: Connolly
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Michael
authors.initials: M
authors.lastname: Hutchinson
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000328:Adult; D001827:Body Height; D004576:Electromyography; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000503:physiopathology; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009431:Neural Conduction; D010024:Osteoporosis / Q000235:genetics / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics* / Q000502:physiology; D012357:RNA, Transfer, Lys / Q000235:genetics*
chemical_list: D012357:RNA, Transfer, Lys; D003576:Electron Transport Complex IV