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

  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},
  volume={29 9},
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
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