Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

@article{Lamantea2002MutationsOM,
  title={Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.},
  author={Eleonora Lamantea and Valeria Tiranti and Andreina Bordoni and Ant{\'o}nio Toscano and F. Bono and Serena Servidei and Alex Papadimitriou and Hans Spelbrink and Laura Silvestri and Giorgio Casari and Giacomo Comi and Massimo Zeviani},
  journal={Annals of neurology},
  year={2002},
  volume={52 2},
  pages={211-9}
}
One form of familial progressive external ophthalmoplegia with multiple mitochondrial DNA deletions recently has been associated with mutations in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase. We screened the POLG1 gene in several PEO families and identified five different heterozygous missense mutations of POLG1 in 10 autosomal dominant families. Recessive mutations were found in three families. Our data show that mutations of POLG1 are the most… CONTINUE READING
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