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Selected References
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- Chretien D., Bourgeron T., Rötig A., Munnich A., Rustin P. The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle. Biochem Biophys Res Commun. 1990 Nov 30;173(1):26–33. doi: 10.1016/s0006-291x(05)81016-2. [DOI] [PubMed] [Google Scholar]
- Federico A., Manneschi L., Meloni M., Alessandrini C., Bardelli A. M., Dotti M. T., Sabatelli P. Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy. J Inherit Metab Dis. 1988;11 (Suppl 2):193–197. doi: 10.1007/BF01804233. [DOI] [PubMed] [Google Scholar]
- 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]
- Mondelli M., Rossi A., Scarpini C., Dotti M. T., Federico A. BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement. Acta Neurol Scand. 1990 Apr;81(4):349–353. doi: 10.1111/j.1600-0404.1990.tb01569.x. [DOI] [PubMed] [Google Scholar]
- Nikoskelainen E., Hassinen I. E., Paljärvi L., Lang H., Kalimo H. Leber's hereditary optic neuroretinopathy, a mitochondrial disease? Lancet. 1984 Dec 22;2(8417-8418):1474–1474. doi: 10.1016/s0140-6736(84)91669-6. [DOI] [PubMed] [Google Scholar]
- Palan A., Stehouwer A., Went L. N. Studies on Leber's optic neuropathy III. Doc Ophthalmol. 1989 Jan;71(1):77–87. doi: 10.1007/BF00155135. [DOI] [PubMed] [Google Scholar]
- 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]
- Singh G., Lott M. T., Wallace D. C. A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med. 1989 May 18;320(20):1300–1305. doi: 10.1056/NEJM198905183202002. [DOI] [PubMed] [Google Scholar]
- Uemura A., Osame M., Nakagawa M., Nakahara K., Sameshima M., Ohba N. Leber's hereditary optic neuropathy: mitochondrial and biochemical studies on muscle biopsies. Br J Ophthalmol. 1987 Jul;71(7):531–536. doi: 10.1136/bjo.71.7.531. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- 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]
- Zheng X. X., Shoffner J. M., Voljavec A. S., Wallace D. C. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta. 1990 Aug 9;1019(1):1–10. doi: 10.1016/0005-2728(90)90118-n. [DOI] [PubMed] [Google Scholar]