Reversion of mtDNA depletion in a patient with TK2 deficiency

• Published in: Neurology Vol. 60; no. 7; pp. 1203 - 1205
• Main Authors: VILA, M. R, SEGOVIA-SILVESTRE, T, ANDREU, A. L, GAMEZ, J, MARINA, A, NAINI, A. B, MESEGUER, A, LOMBES, A, BONILLA, E, DIMAURO, S, HIRANO, M
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 08-04-2003
• Subjects: Adolescent; Biological and medical sciences; Biopsy; Cells, Cultured; Disease Progression; Diseases of striated muscles. Neuromuscular diseases; DNA, Mitochondrial - genetics; DNA, Mitochondrial - metabolism; Fibroblasts - enzymology; Humans; Male; Medical sciences; Metabolism, Inborn Errors - complications; Metabolism, Inborn Errors - enzymology; Metabolism, Inborn Errors - genetics; Mitochondria - enzymology; Mitochondrial Myopathies - complications; Mitochondrial Myopathies - diagnosis; Mitochondrial Myopathies - pathology; Muscle Fibers, Fast-Twitch - pathology; Mutation; Neurology; Thymidine Kinase - deficiency; Thymidine Kinase - genetics; Thymidine Kinase - metabolism; Human; Case study; Thymidine kinase; Striated muscle disease; Depletion; Enzyme; Transferases; Adolescent; Exploration; Mitochondrial DNA; Myopathy
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/01.WNL.0000055928.58122.47

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.