Polymerase gamma 1 mutations: clinical correlations.

  title={Polymerase gamma 1 mutations: clinical correlations.},
  author={Margherita Milone and Rami Massie},
  journal={The neurologist},
  volume={16 2},
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. Since then, it has emerged that POLG1 mutations can result in a spectrum of clinical… CONTINUE READING
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