Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

@article{Chanprasert2013MolecularAC,
  title={Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.},
  author={Sirisak Chanprasert and Jing Wang and S Z Weng and Gregory M. Enns and Daniel R. Bou{\'e} and Brenda L Y Wong and Jerry R. Mendell and Deborah A Perry and Zarife Sahenk and William J. Craigen and Francisco J. Alcal{\'a} and Juan M. Pascual and Serge B. Melançon and Victor Wei Zhang and Fernando Scaglia and L. J. C. Wong},
  journal={Molecular genetics and metabolism},
  year={2013},
  volume={110 1-2},
  pages={153-61}
}
Mitochondrial DNA (mtDNA) depletion syndromes (MDSs) are a clinically and molecularly heterogeneous group of mitochondrial cytopathies characterized by severe mtDNA copy number reduction in affected tissues. Clinically, MDSs are mainly categorized as myopathic, encephalomyopathic, hepatocerebral, or multi-systemic forms. To date, the myopathic form of MDS is mainly caused by mutations in the TK2 gene, which encodes thymidine kinase 2, the first and rate limiting step enzyme in the… CONTINUE READING