A Defect in Mitochondrial Electron-Transport Activity (NADH–Coenzyme Q Oxidoreductase) in Leber's Hereditary Optic Neuropathy
- 18 May 1989
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 320 (20) , 1331-1333
- https://doi.org/10.1056/nejm198905183202007
Abstract
LEBER'S hereditary optic neuropathy is a disorder of unclear cause. Even among members of the same family, the disorder displays a striking degree of clinical heterogeneity, involving an optic neuropathy, at times a movement disorder, and rarely a generalized encephalopathy resulting in death in childhood. Nonneurologic findings include electrocardiographic abnormalities and retinal microangiopathy.1 2 3 The disease is clearly familial but has been difficult to analyze in terms of classic mendelian genetics. It is transmitted exclusively by women to offspring of both sexes; there have been no demonstrated cases of paternal transmission. Wallace has raised the possibility that the disorder results from . . .Keywords
This publication has 14 references indexed in Scilit:
- Myxothiazol resistance in human mitochondriaBiochimica et Biophysica Acta (BBA) - Bioenergetics, 1988
- Leber's Hereditary Optic Neuroretinopathy, a Maternally Inherited DiseaseArchives of Ophthalmology (1950), 1987
- URF6, Last Unidentified Reading Frame of Human mtDNA, Codes for an NADH Dehydrogenase SubunitScience, 1986
- Leber's disease and dystoniaNeurology, 1986
- Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenaseNature, 1985
- Sequence and organization of the human mitochondrial genomeNature, 1981
- An analysis of the polypeptide composition of bovine heart mitochondrial NADH-ubiquinone oxidoreductase by two-dimensional polyacrylamide-gel electrophoresisBiochemical Journal, 1979
- Leber's Optic Atrophy: A Possible Example of Vertical Transmission of a Slow Virus in ManInternal Medicine Journal, 1970
- The heart in Leber's optic atrophy.British Journal of Ophthalmology, 1970
- A NEW MANIFESTATION OF LEBER'S DISEASE AND A NEW EXPLANATION FOR THE AGENCY RESPONSIBLE FOR ITS UNUSUAL PATTERN OF INHERITANCEBrain, 1970