Article
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
Journal of neuropathology and experimental neurology - 1 Sept 2008
Zsurka Gábor, Baron Miriam, Stewart Joanna D, Kornblum Cornelia, Bös Monika, Sassen Robert, Taylor Robert W, Elger Christian E, Chinnery Patrick F, Kunz Wolfram S
Abstract excerpt
The instability of the mitochondrial genome in individuals harboring pathogenic mutations in the catalytic subunit of mitochondrial DNA (mtDNA) polymerase gamma (POLG) is well recognized, but the underlying molecular mechanisms remain to be elucidated. In 5 pediatric patients with severe myoclonic epilepsy and valproic acid-induced liver failure, we identified 1 novel and 4 previously described pathogenic...
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