title: Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.
abstract: Autosomal dominant PEO is associated with mutations in a number of nuclear genes affecting the intergenomic communication with mitochondrial DNA. We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel c.1071G>C (p.R357P) mutation in the hot-spot linker region of the twinkle protein.
authors.affiliation: Centro de Investigación, Hospital Universitario 12 de Octubre, Av. de Córdoba s/n, 28041 Madrid, Spain.
authors.forename: Henry
authors.initials: H
authors.lastname: Rivera
authors.forename: Alberto
authors.initials: A
authors.lastname: Blázquez
authors.forename: Julián
authors.initials: J
authors.lastname: Carretero
authors.forename: José C
authors.initials: JC
authors.lastname: Alvarez-Cermeño
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: Ana
authors.initials: A
authors.lastname: Cabello
authors.forename: Emiliano
authors.initials: E
authors.lastname: Gonzalez-Vioque
authors.forename: Belén
authors.initials: B
authors.lastname: Borstein
authors.forename: Rafael
authors.initials: R
authors.lastname: Garesse
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
mesh_terms: D000368:Aged; D001120:Arginine / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D010641:Phenotype; D011392:Proline / Q000235:genetics; D013030:Spain
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D001120:Arginine; D011392:Proline; D004265:DNA Helicases; C431576:TWNK protein, human