Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

@article{Lesko2010TwoNM,
  title={Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.},
  author={Nicole Lesko and Karin Naess and Rolf Wibom and Nicola Solaroli and Inger Nennesmo and Ulrika von D{\"o}beln and Anna Karlsson and Nils-G{\"o}ran Larsson},
  journal={Neuromuscular disorders : NMD},
  year={2010},
  volume={20 3},
  pages={198-203}
}
Deficiency of thymidine kinase-2 (TK2) has been described in children with early onset fatal skeletal myopathy. TK2 is a mitochondrial deoxyribonucleoside kinase required for the phosphorylation of deoxycytidine and deoxythymidine and hence is vital for the maintenance of a balanced mitochondrial dNTP pool in post-mitotic tissues. We describe a patient with… CONTINUE READING