title: TK2 mutation presenting as indolent myopathy.
abstract: Recessive mutations in the TK2 gene typically cause fatal infantile mitochondrial DNA (mtDNA) depletion syndromes (MDS).(1-3) However, the progression of weakness may vary,(4) as shown by recently described adult patients with late-onset myopathy.(5,6) To date, only 5 adult patients with TK2-related MDS have been reported. Herein, we describe a man who had several unusual features. Clinically, he was weak as a child but sought medical attention as an adult. At the molecular level, multiple mtDNA deletions in muscle were more prominent than mtDNA depletion.
authors.affiliation: Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Paradas
authors.forename: Purificacion
authors.initials: P
authors.lastname: Gutiérrez Ríos
authors.forename: Eloy
authors.initials: E
authors.lastname: Rivas
authors.forename: Pilar
authors.initials: P
authors.lastname: Carbonell
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013937:Thymidine Kinase / Q000235:genetics*; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; C105339:thymidine kinase 2; D013937:Thymidine Kinase