Molecular Bypass Deoxynucleoside Therapy for Thymidine Kinase 2 Deficiency (TK2d)
Thymidine kinase 2 deficiency (TK2d) is a rare mitochondrial disease due to mutations in the TK2 gene (TK2). Deficiency of TK2 enzyme causes depletion and multiple deletions of mitochondrial DNA that lead to progressive muscle weakness that begins in infancy through adulthood. Our studies of a mouse model of TK2d have indicated that deoxynucleosides can […]
