MITOMAP References for RNA Mutation A606G

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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 .