Retrospective natural history of thymidine kinase 2 deficiency

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.To perform a...

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Hlavní autoři:	Garone, C, Taylor, R, Nascimento, A, Poulton, J, Fratter, C, Domínguez-González, C, Evans, J, Loos, M, Isohanni, P, Suomalainen, A, Ram, D, Hughes, M, McFarland, R, Barca, E, Lopez Gomez, C, Jayawant, S, Thomas, N, Manzur, A, Kleinsteuber, K, Martin, M, Kerr, T, Gorman, G, Sommerville, E, Chinnery, P, Hofer, M, Karch, C, Ralph, J, Cámara, Y, Madruga-Garrido, M, Domínguez-Carral, J, Ortez, C, Emperador, S, Montoya, J, Chakrapani, A, Kriger, J, Schoenaker, R, Levin, B, Thompson, J, Long, Y, Rahman, S, Donati, M, DiMauro, S, Hirano, M
Médium:	Journal article
Jazyk:	English
Vydáno:	BMJ Publishing Group 2018

Retrospective natural history of thymidine kinase 2 deficiency

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