title: A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia.
abstract: We have sequenced the entire mitochondrial DNA (mtDNA) from a 54-year-old man with chronic progressive external ophthalmoplegia (PEO) and hyperCKemia. Muscle biopsy showed ragged red and SDH positive/COX negative fibres, and the biochemistry was suggestive mitochondrial respiratory chain dysfunction. Analysis of mtDNA revealed a heteroplasmic m. 4308G>A mutation in the transfer RNA isoleucine gene (MT-TI gene). Our report expands the genetic heterogeneity of PEO.
authors.affiliation: Department of Molecular Neurobiology and Neuropathology, La Rabta, National Institute of Neurology, Tunis, Tunisia. sihemsouilem@yahoo.fr
authors.forename: Sihem
authors.initials: S
authors.lastname: Souilem
authors.forename: Saber
authors.initials: S
authors.lastname: Chebel
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Lucia
authors.initials: L
authors.lastname: Petrozzi
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Mahbouba
authors.initials: M
authors.lastname: FrihAyed
authors.forename: Faycal
authors.initials: F
authors.lastname: Hentati
authors.forename: Rim
authors.initials: R
authors.lastname: Amouri
mesh_terms: D003402:Creatine Kinase / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012313:RNA; D000077278:RNA, Mitochondrial; D012355:RNA, Transfer, Ile / Q000235:genetics*
chemical_list: D000077278:RNA, Mitochondrial; D012355:RNA, Transfer, Ile; D012313:RNA; D003402:Creatine Kinase