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A retrospective natural history study of a large cohort of patients with TK2d [2017]
Garone C, Taylor RW, Nascimento A, et al. Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet.2018;55(8):515-521. doi:0.1136/jmedgenet-2017-105012.
A review of the clinical and molecular spectrum of TK2D [2018]
Wang J, Kim E, Dai H, et al. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Mol Genet Metab.2018;124(2):124-130. doi: 10.1016/j.ymgme.2018.04.012.
GeneReviews: an international point-of-care resource for busy clinicians [2018]
Wang J, El-Hattab AW, Wong L-JC. TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form. GeneReviews. Published July 26, 2018.
OMIM (Online Mendelian Inheritance in Man): an online catalog of human genes and genetic disorder [2016]
Mitochondrial DNA depletion syndrome 2 (myopathic type); MTDPS2.Online Mendelian Inheritance in Man (OMIM).
Genetics Home Reference: consumer-friendly information about the effects of genetic variation on human health [2018]
TK2-related mitochondrial DNA depletion syndrome, myopathic form - Genetics Home Reference - NIH. U.S. National Library of Medicine.