| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 19394449 | 2009 | Yang, J., Zhu, Y., Tong, Y., Zhang, Z., Chen, L., Chen, S., Cao, Z., Liu, C., Xu, J., Ma, X. (2009) The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family Mitochondrion . 9 (4): 273-278 . |
| 2 | 20643099 | 2010 | Zou, Y., Jia, X., Zhang, A. M., Wang, W. Z., Li, S., Guo, X., Kong, Q. P., Zhang, Q., Yao, Y. G. (2010) The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations Biochemical and Biophysical Research Communications . 399 (2): 179-185 . |
| 3 | 29444077 | 2018 | Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F., Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A., Carelli, V. (2018) Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy PLoS Genetics . 14 (2): e1007210 . |
| 4 | 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 . |