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Fig. 1. —Schematic drawing of mitochondrial thymidine metabolism. Loss of thymidine phosphorylase (TP) leads to increased levels of plasma thymidine and deoxyuridine, which is hypothesized to alter mitochondrial deoxynucleotide pools leading to mitochondrial DNA (mtDNA) abnormalities. TK2 = thymidine kinase, dNT2 = deoxynucleotidase, TMP = thymidine monophosphate, TTP = thymidine triphosphate.