title: A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.
abstract: We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy. The mutation is heteroplasmic and disrupts a highly conserved A-U base pair within the anticodon stem of the tRNA(Ala). Cytochrome c oxidase-negative fibers harbor a significantly higher level of mutated mtDNA than cytochrome c oxidase-positive fibers. This is the first mutation in the tRNA(Ala) gene which satisfies accepted criteria for pathogenicity.
authors.affiliation: Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Spagnolo
authors.forename: G
authors.initials: G
authors.lastname: Tomelleri
authors.forename: G
authors.initials: G
authors.lastname: Vattemi
authors.forename: M
authors.initials: M
authors.lastname: Filosto
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: P
authors.initials: P
authors.lastname: Tonin
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D003680:Deglutition Disorders / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D017354:Point Mutation; D012344:RNA, Transfer, Ala / Q000737:chemistry / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012344:RNA, Transfer, Ala