Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

@article{Wong2008MolecularAC,
  title={Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.},
  author={L. J. C. Wong and Robert K. Naviaux and Nicola Brunetti-Pierri and Qing Zhang and Eric S Schmitt and Cavatina Truong and Margherita Milone and Bruce H. Cohen and Beverly Wical and Jaya Ganesh and Alice A Basinger and Barbara K. Burton and Kathryn Swoboda and Donald L Gilbert and Adeline Vanderver and R P Saneto and Bruno Maranda and Georgianne Arnold and Jose E. Abdenur and Paula J. Waters and William C. Copeland},
  journal={Human mutation},
  year={2008},
  volume={29 9},
  pages={E150-72}
}
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA), 5) autosomal recessive Progressive External Ophthalmoplegia… CONTINUE READING
90 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 90 extracted citations

Similar Papers

Loading similar papers…