Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Human mutation - 1 Sept 2008
Wong Lee-Jun C, Naviaux Robert K, Brunetti-Pierri Nicola, Zhang Qing, Schmitt Eric S, Truong Cavatina, Milone Margherita, Cohen Bruce H, Wical Beverly, Ganesh Jaya, Basinger Alice A, Burton Barbara K, Swoboda Kathryn, Gilbert Donald L, Vanderver Adeline, Saneto Russell P, Maranda Bruno, Arnold Georgianne, Abdenur Jose E, Waters Paula J, Copeland William C
Abstract excerpt
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...
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