MITOMAP References for RNA Mutation T10010C

• Bidooki, S. K., Johnson, M. A., Chrzanowska-Lightowlers, Z., Bindoff, L. A., Lightowlers, R. N. (1997) Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes American Journal of Human Genetics . 60 (6): 1430-1438 .


• 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 .


• 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 .


• Nishigaki, Y., Bonilla, E., Shanske, S., Gaskin, D. A., DiMauro, S., Hirano, M. (2002) Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly) Neurology . 58 (8): 1282-1285 .


• Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .


• 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 .


• 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 .