Article
Polymerase gamma 1 mutations: clinical correlations.
The neurologist - 1 Mar 2010
Milone Margherita, Massie Rami
Abstract excerpt
BACKGROUND: Mitochondrial disorders result from primary defects in the mitochondrial DNA (mtDNA) or from defects in nuclear genes which cause disease by affecting the mtDNA. POLG1 is a nuclear gene which encodes for the catalytic subunit of the mtDNA polymerase gamma, essential for mtDNA replication. Less than a decade ago, POLG1 mutations were discovered in patients with progressive external ophthalmoplegia....
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