Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.
Wang L, Saada A, Eriksson S.
Wang L, et al. Among authors: eriksson s.
J Biol Chem. 2003 Feb 28;278(9):6963-8. doi: 10.1074/jbc.M206143200. Epub 2002 Dec 18.
J Biol Chem. 2003.
PMID: 12493767
Free article.
Two mutations in the human TK2 gene, His-121 to Asn and Ile-212 to Asn, were recently described in patients with severe mtDNA depletion myopathy (Saada, A., Shaag, A., Mandel, H., Nevo, Y., Eriksson, S., and Elpeleg, O. (2001) Nat. Genet. 29, 342-344). The same muta …
Two mutations in the human TK2 gene, His-121 to Asn and Ile-212 to Asn, were recently described in patients with severe mtDNA depletion myop …