Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S Schmitt, Cavatina Truong, Margherita Milone, Bruce H Cohen, Beverly Wical, Jaya Ganesh, Alice A Basinger, Barbara K Burton, Kathryn Swoboda, Donald L Gilbert, Adeline Vanderver, Russell P Saneto, Bruno Maranda, Georgianne Arnold, Jose E Abdenur, Paula J Waters, William C Copeland
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 (arPEO), and 6) autosomal dominant Progressive External Ophthalmoplegia (adPEO)...
September 2008: Human Mutation