title: Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
abstract: A 21-year-old woman described proximal muscle weakness since early childhood. At age 16, she developed bilateral ptosis, progressive external ophthalmoplegia, and exercise intolerance. She harbored a heteroplasmic G12315A mutation in the mitochondrial DNA tRNA(Leu(CUN)) gene, which disrupts a highly conserved G-C base pair in the TPsiC stem of the molecule. Mutant mitochondrial DNA was 62% of total in muscle and 17% in blood. The mutation was undetectable in blood, urinary sediment, and hair follicles from the patient's mother. This second patient with G12315A and progressive external ophthalmoplegia confirms the pathogenicity of the mutation and helps to define the correlation between genotype and phenotype.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
authors.forename: Charalampos L
authors.initials: CL
authors.lastname: Karadimas
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Sabrina
authors.initials: S
authors.lastname: Sacconi
authors.forename: Penelope
authors.initials: P
authors.lastname: Chronopoulou
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bonilla
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics*; D018482:Muscle, Skeletal; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012343:RNA, Transfer / Q000235:genetics; D012356:RNA, Transfer, Leu / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu; D012343:RNA, Transfer; D005998:Glycine