MITOMAP References for Mutation C-A at 4640

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Index PMID Date Reference
1 11479733 2001 Brown, M. D., Zhadanov, S., Allen, J. C., Hosseini, S., Newman, N. J., Atamonov, V. V., Mikhailovskaya, I. E., Sukernik, R. I., Wallace, D. C. (2001) Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russion LHON families Human Genetics . 109 (1): 33-39 .
2 16523671 2006 Volod'ko, N. V., L'Vova, M. A., Starikovskaya, E. B., Derbeneva, O. A., Bychkov, I. Y., Mikhailovskaya, I. E., Pogozheva, I. V., Fedotov, F. F., Soyan, G. V., Procaccio, V., Wallace, D. C., Sukernik, R. I. (2006) [Spectrum of pathogenic mtDNA mutations in Leber's hereditary optic neuropathy families from Siberia] Genetika (Russian Journal of Genetics) . 42 (1): 76-83 .
3 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): .
4 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
5 18676632 2008 Bosley, T. M., Brodsky, M., Glasier, C. M., Abu-Amero, K. K. (2008) Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities Investigative Ophthalmology and Visual Science . 49 (12): 5250-5256 .
6 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
7 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
8 21145289 2011 Niehusmann, P., Surges, R., von Wrede, R. D., Elger, C. E., Wellmer, J., Reimann, J., Urbach, H., Vielhaber, S., Bien, C. G., Kunz, W. S. (2011) Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery Epilepsy and Behavior . 20 (1): 38-43 .
9 NA 2016 van Oven, M., Kayser, M. (2016) . . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb .