Retrospective natural history of thymidine kinase 2 deficiency.

doi:10.1136/jmedgenet-2017-105012

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Article

Retrospective natural history of thymidine kinase 2 deficiency.

Journal of medical genetics - 1 Aug 2018

Garone Caterina, Taylor Robert W, Nascimento Andrés, Poulton Joanna, Fratter Carl, Domínguez-González Cristina, Evans Julie C, Loos Mariana, Isohanni Pirjo, Suomalainen Anu, Ram Dipak, Hughes M Imelda, McFarland Robert, Barca Emanuele, Lopez Gomez Carlos, Jayawant Sandeep, Thomas Neil D, Manzur Adnan Y, Kleinsteuber Karin, Martin Miguel A, Kerr Timothy, Gorman Grainne S, Sommerville Ewen W, Chinnery Patrick F, Hofer Monika, Karch Christoph, Ralph Jeffrey, Cámara Yolanda, Madruga-Garrido Marcos, Domínguez-Carral Jana, Ortez Carlos, Emperador Sonia, Montoya Julio, Chakrapani Anupam, Kriger Joshua F, Schoenaker Robert, Levin Bruce, Thompson John L P, Long Yuelin, Rahman Shamima, Donati Maria Alice, DiMauro Salvatore, Hirano Michio

Abstract excerpt

BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. OBJECTIVE: To perform a retrospective natural history study of a large cohort of patients with TK2 deficiency....

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Identifiers

PMID: 29602790
DOI: 10.1136/jmedgenet-2017-105012
PMCID: PMC6073909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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