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Artículo
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
(Springer Nature, 2019-05-06)
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of ...