Index | PMID | Date | Reference |
---|---|---|---|
1 | 9066365 | 1997 | Chinnery, P. F., Johnson, M. A., Taylor, R. W., Lightowlers, R. N., Turnbull, D. M. (1997) A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis Annals of Neurology . 41 (3): 408-410 . |
2 | 10611123 | 2000 | Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M., Griffiths, T. D. (2000) The spectrum of hearing loss due to mitochondrial DNA defects Brain . 123 (Pt 1): 82-92 . |
3 | 14733964 | 2004 | McFarland, R., Taylor, R. W., Chinnery, P. F., Howell, N., Turnbull, D. M. (2004) A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis Neuromuscular Disorders . 14 (2): 162-166 . |
4 | 17878308 | 2007 | Ling, J., Roy, H., Qin, D., Rubio, M. A., Alfonzo, J. D., Fredrick, K., Ibba, M. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome Proceedings of the National Academy of Sciences . 104 (39): 15299-15304 . |
5 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |