HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Full Text (PDF) Data Supplement Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Vilà, M.R. Articles by Andreu, A.L. Search for Related Content PubMed PubMed Citation Articles by Vilà, M.R. Articles by Andreu, A.L. Related Collections Muscle disease Mitochondrial disorders

Reversion of mtDNA depletion in a patient with TK2 deficiency

From the Departments of Neurology (Drs. Vilà, Naini, Bonilla, DiMauro, and Hirano) and Biochemistry and Molecular Biophysics (Dr. Marina), Columbia University College of Physicians & Surgeons. New York, NY; Centre d’Investigacions en Bioquimíca i Biologia Molecular (CIBBIM) (T. Segovia-Silvestre and Drs. Meseguer and Andreu) and Department of Neurology (Dr. Gámez), Hospitals Vall d’Hebron, Barcelona, Spain; INSERM UR523, Institut de Myologie (Dr. Lombès), Hôpital de La Salpêtrière, Paris, France.

Address correspondence and reprint requests to Dr. Antoni L. Andreu, Centre d’Investigacions en Bioquimíca i Biologia Molecular (CIBBIM), Hospitals Vall d’Hebron, Passeig Vall d’Hebron, 119-129, 08035 Barcelona, Spain; e-mail: tandreu{at}hg.vhebron.es

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.

This article has been cited by other articles:

				A. Gotz, P. Isohanni, H. Pihko, A. Paetau, R. Herva, O. Saarenpaa-Heikkila, L. Valanne, S. Marjavaara, and A. Suomalainen Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome Brain, November 1, 2008; 131(11): 2841 - 2850. [Abstract] [Full Text] [PDF]

				H. O. Akman, B. Dorado, L. C. Lopez, A. Garcia-Cazorla, M. R. Vila, L. M. Tanabe, W. T. Dauer, E. Bonilla, K. Tanji, and M. Hirano Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance Hum. Mol. Genet., August 15, 2008; 17(16): 2433 - 2440. [Abstract] [Full Text] [PDF]

				N. Ashley, A. O'Rourke, C. Smith, S. Adams, V. Gowda, M. Zeviani, G. K. Brown, C. Fratter, and J. Poulton Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations Hum. Mol. Genet., August 15, 2008; 17(16): 2496 - 2506. [Abstract] [Full Text] [PDF]

				N. Ashley, S. Adams, A. Slama, M. Zeviani, A. Suomalainen, A. L. Andreu, R. K. Naviaux, and J. Poulton Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances Hum. Mol. Genet., June 15, 2007; 16(12): 1400 - 1411. [Abstract] [Full Text] [PDF]

				S. E. Durham, E. Bonilla, D. C. Samuels, S. DiMauro, and P. F. Chinnery Mitochondrial DNA copy number threshold in mtDNA depletion myopathy Neurology, August 9, 2005; 65(3): 453 - 455. [Abstract] [Full Text] [PDF]

				J.-W. Taanman, J. R. Muddle, and A. C. Muntau Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts Hum. Mol. Genet., August 1, 2003; 12(15): 1839 - 1845. [Abstract] [Full Text] [PDF]