Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
letter
. 1995 Dec;57(6):1501–1502.

The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.

H R Cock, J M Cooper, A H Schapira
PMCID: PMC1801418  PMID: 8533781

Full text

PDF
1501

Selected References

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

  1. Degli Esposti M., Carelli V., Ghelli A., Ratta M., Crimi M., Sangiorgi S., Montagna P., Lenaz G., Lugaresi E., Cortelli P. Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett. 1994 Oct 3;352(3):375–379. doi: 10.1016/0014-5793(94)00971-6. [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. Larsson N. G., Andersen O., Holme E., Oldfors A., Wahlström J. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol. 1991 Nov;30(5):701–708. doi: 10.1002/ana.410300511. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. Majander A., Huoponen K., Savontaus M. L., Nikoskelainen E., Wikström M. Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett. 1991 Nov 4;292(1-2):289–292. doi: 10.1016/0014-5793(91)80886-8. [DOI] [PubMed] [Google Scholar]
  6. Parker W. D., Jr, Oley C. A., Parks J. K. A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy. N Engl J Med. 1989 May 18;320(20):1331–1333. doi: 10.1056/NEJM198905183202007. [DOI] [PubMed] [Google Scholar]
  7. Riordan-Eva P., Harding A. E. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet. 1995 Feb;32(2):81–87. doi: 10.1136/jmg.32.2.81. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Smith P. R., Cooper J. M., Govan G. G., Harding A. E., Schapira A. H. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci. 1994 Mar;122(1):80–83. doi: 10.1016/0022-510x(94)90055-8. [DOI] [PubMed] [Google Scholar]
  9. Wallace D. C. A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain. 1970;93(1):121–132. doi: 10.1093/brain/93.1.121. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES