Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

@article{Filosto2003ClinicalAG,
  title={Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.},
  author={Massimiliano Filosto and M Mancuso and Yutaka Nishigaki and Jacklyn Pancrudo and Yadollah Harati and Clifton Gooch and Ami Mankodi and Lydia Bayne and Eduardo Bonilla and Sara Shanske and M Hirano and Salvatore Dimauro},
  journal={Archives of neurology},
  year={2003},
  volume={60 9},
  pages={1279-84}
}
BACKGROUND The mendelian forms of progressive external ophthalmoplegia (PEO) associated with multiple mitochondrial DNA deletions are clinically heterogeneous disorders transmitted as dominant or recessive traits. Autosomal dominant PEO is caused by mutations in at least 3 genes: adenine nucleotide translocator-1 (ANT1), encoding the muscle-specific adenine nucleotide translocator; chromosome 10 open reading frame 2 (C10orf2), encoding Twinkle helicase; and polymerase gamma (POLG), encoding the… CONTINUE READING