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. 1996 Aug;59(2):481–485.

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

D A Mackey, R J Oostra, T Rosenberg, E Nikoskelainen, J Bronte-Stewart, J Poulton, A E Harding, G Govan, P A Bolhuis, S Norby
PMCID: PMC1914749  PMID: 8755941

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brown M. D., Shoffner J. M., Kim Y. L., Jun A. S., Graham B. H., Cabell M. F., Gurley D. S., Wallace D. C. Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am J Med Genet. 1996 Jan 22;61(3):283–289. doi: 10.1002/(SICI)1096-8628(19960122)61:3<283::AID-AJMG15>3.0.CO;2-P. [DOI] [PubMed] [Google Scholar]
  2. Brown M. D., Voljavec A. S., Lott M. T., Torroni A., Yang C. C., Wallace D. C. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992 Jan;130(1):163–173. doi: 10.1093/genetics/130.1.163. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Chan C., Mackey D. A., Byrne E. Sporadic Leber hereditary optic neuropathy in Australia and New Zealand. Aust N Z J Ophthalmol. 1996 Feb;24(1):7–14. doi: 10.1111/j.1442-9071.1996.tb01545.x. [DOI] [PubMed] [Google Scholar]
  4. De Vries D. D., Went L. N., Bruyn G. W., Scholte H. R., Hofstra R. M., Bolhuis P. A., van Oost B. A. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet. 1996 Apr;58(4):703–711. [PMC free article] [PubMed] [Google Scholar]
  5. Howell N., Kubacka I., Halvorson S., Howell B., McCullough D. A., Mackey D. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics. 1995 May;140(1):285–302. doi: 10.1093/genetics/140.1.285. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Howell N., Kubacka I., Halvorson S., Mackey D. Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene. Genetics. 1993 Jan;133(1):133–136. doi: 10.1093/genetics/133.1.133. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Huoponen K., Vilkki J., Aula P., Nikoskelainen E. K., Savontaus M. L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991 Jun;48(6):1147–1153. [PMC free article] [PubMed] [Google Scholar]
  8. Johns D. R., Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324–1330. doi: 10.1016/0006-291x(91)91567-v. [DOI] [PubMed] [Google Scholar]
  9. Johns D. R., Neufeld M. J., Park R. D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551–1557. doi: 10.1016/0006-291x(92)90479-5. [DOI] [PubMed] [Google Scholar]
  10. Jun A. S., Brown M. D., Wallace D. C. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6206–6210. doi: 10.1073/pnas.91.13.6206. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Mackey D., Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet. 1992 Dec;51(6):1218–1228. [PMC free article] [PubMed] [Google Scholar]
  12. Mashima Y., Hiida Y., Oguchi Y., Kudoh J., Shimizu N. High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. Hum Genet. 1993 Aug;92(1):101–102. doi: 10.1007/BF00216156. [DOI] [PubMed] [Google Scholar]
  13. Nikoskelainen E. K., Huoponen K., Juvonen V., Lamminen T., Nummelin K., Savontaus M. L. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 1996 Mar;103(3):504–514. doi: 10.1016/s0161-6420(96)30665-9. [DOI] [PubMed] [Google Scholar]
  14. Nikoskelainen E. K., Marttila R. J., Huoponen K., Juvonen V., Lamminen T., Sonninen P., Savontaus M. L. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):160–164. doi: 10.1136/jnnp.59.2.160. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Obermaier-Kusser B., Lorenz B., Schubring S., Paprotta A., Zerres K., Meitinger T., Meire F., Cochaux P., Blankenagel A., Kommerell G. Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. Am J Hum Genet. 1994 Nov;55(5):1063–1066. [PMC free article] [PubMed] [Google Scholar]
  16. Oostra R. J., Bolhuis P. A., Zorn-Ende I., de Kok-Nazaruk M. M., Bleeker-Wagemakers E. M. Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet. 1994 Sep;94(3):265–270. doi: 10.1007/BF00208281. [DOI] [PubMed] [Google Scholar]
  17. Riordan-Eva P., Sanders M. D., Govan G. G., Sweeney M. G., Da Costa J., Harding A. E. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995 Apr;118(Pt 2):319–337. doi: 10.1093/brain/118.2.319. [DOI] [PubMed] [Google Scholar]
  18. Wallace D. C. 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet. 1995 Aug;57(2):201–223. [PMC free article] [PubMed] [Google Scholar]
  19. Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]

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