title: A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.
abstract: We describe a patient who presented with acute rhabdomyolysis and had 68% cytochrome c oxidase (COX)-deficient fibers in skeletal muscle. Further investigations confirmed a respiratory chain defect that was associated with a novel heteroplasmic point mutation in the phenylalanine tRNA gene of the mitochondrial genome (mtDNA). Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in COX-negative fibers. This is the first case of a mitochondrial tRNA gene point mutation presenting with acute rhabdomyolysis and recurrent myoglobinuria.
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: R N
authors.initials: RN
authors.lastname: Lightowlers
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D000208:Acute Disease; D000328:Adult; D001483:Base Sequence; D001706:Biopsy; D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009212:Myoglobinuria / Q000150:complications; D010649:Phenylalanine / Q000235:genetics*; D017354:Point Mutation; D012345:RNA, Transfer, Amino Acid-Specific / Q000235:genetics*; D012206:Rhabdomyolysis / Q000150:complications / Q000235:genetics*
chemical_list: D012345:RNA, Transfer, Amino Acid-Specific; D010649:Phenylalanine