title: Reversion of mtDNA depletion in a patient with TK2 deficiency.
abstract: Mutations in the thymidine kinase 2 (TK2) gene cause a myopathic form of the mitochondrial DNA depletion syndrome (MDS). Here, the authors report the unusual clinical, biochemical, and molecular findings in a 14-year-old patient in whom pathogenic mutations were identified in the TK2 gene. This report extends the phenotypic expression of primary TK2 deficiency and suggests that factors other than TK2 may modify expression of the clinical phenotype in patients with MDS syndrome.
authors.affiliation: Department of Neurology, Columbia University College of Physicians & Surgeons. New York, NY, USA.
authors.forename: M R
authors.initials: MR
authors.lastname: Vilà
authors.forename: T
authors.initials: T
authors.lastname: Segovia-Silvestre
authors.forename: J
authors.initials: J
authors.lastname: Gámez
authors.forename: A
authors.initials: A
authors.lastname: Marina
authors.forename: A B
authors.initials: AB
authors.lastname: Naini
authors.forename: A
authors.initials: A
authors.lastname: Meseguer
authors.forename: A
authors.initials: A
authors.lastname: Lombès
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002478:Cells, Cultured; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism*; D018450:Disease Progression; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D008928:Mitochondria / Q000201:enzymology; D017240:Mitochondrial Myopathies / Q000150:complications / Q000175:diagnosis / Q000473:pathology; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology; D009154:Mutation; D013937:Thymidine Kinase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; C105339:thymidine kinase 2; D013937:Thymidine Kinase