Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism

@article{Sato2011GeneticAO,
  title={Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism},
  author={Kazunori Sato and Ichiro Yabe and Hiroaki Yaguchi and Fumihito Nakano and Yasuyuki Kunieda and Shinji Saitoh and Hidenao Sasaki},
  journal={Journal of Neurology},
  year={2011},
  volume={258},
  pages={1327-1332}
}
Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. However, the genotype–phenotype correlation and pathophysiology of these syndromes are still unknown. In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole… CONTINUE READING
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