8
Views
0
CrossRef citations to date
0
Altmetric
Original Article

Analysis of Wallace mutation in patients with Leber's hereditary optic neuropathy: familial study and tissue distribution

, , , , &
Pages 85-90 | Accepted 25 Nov 1995, Published online: 08 Jul 2009

References

  • Wallace D C., Singh G., Lott M T, Hodge J A, Schurr T G, Lezza A MS, Elsas L J, II, Nikoskelainen E K. Mho chondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427–1430
  • Holt I J, Miller D H, Harding A E. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet 1989; 26: 739–743
  • Vilkki J., Savontaus M L, Nikoskelainen E K. Genetic heterogeneity in Leber hereditary optic neuroretino-pathy revealed by mitochondrial DNA polymorphism. Am J Hum Genet 1989; 45: 206–211
  • Yoneda M., Tsuji S, Yamaguchi T., Inuzuka T, Miyatake T, Horai S, Ozawa T. Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy. Lancet 1989; 1: 1076–1077
  • Nakamura M, Ara F, Yamada M, Hotta Y, Hayakawa M, Fujiki K, Kanai A, Sakai J., Inoue M, Yamamoto M, Fujiwara Y, Umoto A., Miyazaki S, Shimo-Oku M, Furuyama J, Nakajima A, Imachi J. High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. Jpn J Ophthalmol 1992; 36: 56–61
  • Vilkki J, Savontaus M L., Nikoskelainen E K. Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1990; 47: 95–100
  • Lott M T, Voljavec A S., Wallace D C. Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol 1990; 109: 625–631
  • Saiki R K., Gelfand D H., Stoffel S, Scharf S J., Higuchi R, Horn G T., Mullis K B., Erlich H A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487–491
  • Norby S, Lestienne P, Nelson I, Rosenberg T. Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming. Biochem Biophys Res Commun 1991; 175: 631–636
  • Imachi J. Leber's disease: its genetics, clinical pictures, therapy and histo-pathology (in Japanese). Nippon Ganka Gakkai Zasshi 1973; 77: 1658–1735
  • Imachi J. Pathohistologic study of Leber's hereditary optic atrophy. Trans Asia Pacific Acad Ophthalmol 1978; 6: 191–197
  • Imachi J, Isayama Y, Ide T, Shimo-Oku M, Yuri Y, Goto H, Komai T, Murai M, Nishizaki K. Therapeutic effects of craniotomy on optic nerve diseases. Jpn J Ophthalmol 1964; 8: 137–149

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.