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. 1992 Apr;50(4):872–874.

Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.

D R Johns
PMCID: PMC1682636  PMID: 1550131

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Selected References

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

  1. Burger G., Werner S. The mitochondrial URF1 gene in Neurospora crassa has an intron that contains a novel type of URF. J Mol Biol. 1985 Nov 20;186(2):231–242. doi: 10.1016/0022-2836(85)90100-7. [DOI] [PubMed] [Google Scholar]
  2. Howell N., Kubacka I., Xu M., McCullough D. A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet. 1991 May;48(5):935–942. [PMC free article] [PubMed] [Google Scholar]
  3. Howell N., McCullough D. An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene. Am J Hum Genet. 1990 Oct;47(4):629–634. [PMC free article] [PubMed] [Google Scholar]
  4. 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]
  5. Huoponen K., Vilkki J., Savontaus M. L., Aula P., Nikoskelainen E. K. Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy. Genomics. 1990 Nov;8(3):583–585. doi: 10.1016/0888-7543(90)90049-z. [DOI] [PubMed] [Google Scholar]
  6. Johns D. R. Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy. Am J Hum Genet. 1991 Jun;48(6):1209–1213. [PMC free article] [PubMed] [Google Scholar]
  7. 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]
  8. Johns D. R., Rutledge S. L., Stine O. C., Hurko O. Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proc Natl Acad Sci U S A. 1989 Oct;86(20):8059–8062. doi: 10.1073/pnas.86.20.8059. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Johns D. R. The molecular genetics of Leber's hereditary optic neuropathy. Arch Ophthalmol. 1990 Oct;108(10):1405–1407. doi: 10.1001/archopht.1990.01070120053027. [DOI] [PubMed] [Google Scholar]
  10. 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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