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Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as… Click to show full abstract
Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood and progressing relentlessly. We investigated the safety and efficacy of deoxynucleoside monophosphate and deoxynucleoside therapies.
Keywords:
deficient myopathy;
kinase;
kinase deficient;
deoxynucleoside therapy;
therapy thymidine;
thymidine kinase
Journal Title: Annals of Neurology
Year Published: 2019
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Journal Title: Annals of Neurology
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!