MITOMAP References for RNA Mutation G4298A

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Index PMID Date Reference
1 9473477 1998 Taylor, R. W., Chinnery, P. F., Bates, M. J., Jackson, M. J., Johnson, M. A., Andrews, R. M., Turnbull, D. M. (1998) A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis Biochemical and Biophysical Research Communications . 243 (1): 47-51 .
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 12655007 2003 Levinger, L., Giege, R., Florentz, C. (2003) Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitro Nucleic Acids Research . 31 (7): 1904-1912 .
4 16120360 2004 Crimi, M., Galbiati, S., Sciacco, M., Bordoni, A., Natali, M. G., Raimondi, M., Bresolin, N., Comi, G. P. (2004) Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases Mitochondrion . 3 (5): 279-283 .
5 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
6 17886296 2007 Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .
7 19718780 2009 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .
8 20164463 2010 Greaves, L. C., Yu-Wai-Man, P., Blakely, E. L., Krishnan, K. J., Beadle, N. E., Kerin, J., Barron, M. J., Griffiths, P. G., Dickinson, A. J., Turnbull, D. M., Taylor, R. W. (2010) Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO Investigative Ophthalmology and Visual Science . 51 (7): 3340-3346 .
9 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
10 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 .