MITOMAP References for Variant G4298A at 4298

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PMID Reference
9473477 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 .
17886296 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 .
31965079 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 .
12655007 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 .
16120360 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 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
10611123 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 .
20064630 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 .
19718780 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 .
20164463 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 .