Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
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DOI: 10.1002/ana.25506
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… read more here.
Keywords: deficient myopathy; kinase; kinase deficient; deoxynucleoside therapy ... See more keywords
Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy
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DOI: 10.1136/bmjresp-2020-000774
Abstract: Background Recessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation. Research question What is the impact of nucleosides in… read more here.
Keywords: respiratory; respiratory involvement; deoxynucleoside therapy; thymidine kinase ... See more keywords