Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.

@article{Matsumoto1999SecondaryMO,
  title={Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.},
  author={Masayuki Matsumoto and Seiji Hayasaka and Chiharu Kadoi and Yoshihiro Hotta and Keiko Fujiki and Takuro Fujimaki and Misako Takeda and Nobuo Ishida and Shin-ichiro Endo and A. Kanai},
  journal={Ophthalmic genetics},
  year={1999},
  volume={20 3},
  pages={
          153-60
        }
}
PURPOSE Based on studies on the pathogenesis of Leber's hereditary optic neuropathy (LHON), mitochondrial DNA (mtDNA) mutations have been divided into two types: primary and secondary. Primary mutations at nucleotide positions (nt) 11778, 3460, and 14484 can each cause LHON. Secondary mutations may be simultaneously found in LHON patients with a primary mutation, may occur at higher frequency in LHON patients than in normal controls, and may play an additional role in the pathogenesis of LHON… CONTINUE READING

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