Index | PMID | Date | Reference |
---|---|---|---|
1 | NA | 1994 | Manfredi, G., Bonilla, E., Schon, E.A., DiMauro, S., Moraes, C. (1994) A mitochondrial DNA missense mutation in the cytochrome oxidase subunit III gene associated with a progressive encephalopathy Miami Short Reports . 4 (-): 17 . |
2 | 7496173 | 1995 | Manfredi, G., Schon, E.A., Moraes, C.T., Bonilla, E., Berry, G.T., Sladky, J.T., DiMauro, S. (1995) A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene Neuromuscular Disorders . 5 (5): 391-398 . |
3 | 15282179 | 2004 | Lenaz, G., Baracca, A., Carelli, V., D'Aurelio, M., Sgarbi, G., Solaini, G. (2004) Bioenergetics of mitochondrial diseases associated with mtDNA mutations Biochimica et Biophysica Acta . 1658 (1-2): 89-94 . |
4 | 15823923 | 2005 | Abu-Amero, K. K., Bosley, T. M., Bohlega, S., Hansen, E. (2005) Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS Ophthalmic Genetics . 26 (1): 31-36 . |
5 | 18587274 | 2008 | Choi, B. O., Hwang, J. H., Kim, J., Cho, E. M., Cho, S. Y., Hwang, S. J., Lee, H. W., Kim, S. J., Chung, K. W. (2008) A MELAS syndrome family harboring two mutations in mitochondrial genome Experimental and Molecular Medicine . 40 (3): 354-360 . |
6 | 21249588 | 2011 | Liu, C. H., Liou, C. W., Liu, C. H., Kuo, H. C., Chu, C. C., Huang, C. C. (2011) Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient Acta Neurologica Taiwanica . 20 (1): 53-58 . |