MITOMAP References for RNA Mutation T3250C

• Goto, Y., Tojo, M., Tohyama, J., Horai, S., Nonaka, I. (1992) A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy Annals of Neurology . 31 (6): 672-675 .


• Ogle, R.F., Christodoulou, J., Fagan, E., Blok, R.B., Kirby, D.M., Seller, K.L., Dahl, H.H., Thorburn, D.R. (1997) Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin Journal of Pediatrics . 130 (1): 138-145 .


• Grünewald, T., Porschke, H., Goebel, H., Reichmann, H., Seibel, P. (1999) Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNA (Leu(UUR)) gene Drug Development Research . 46 (1): 80-85 .


• Opdal, S. H., Vege, A., Egeland, T., Musse, M. A., Rognum, T. O. (2002) Possible role of mtDNA mutations in sudden infant death Pediatric Neurology . 27 (1): 23-29 .


• Arpa, J., Cruz-Martinez, A., Campos, Y., Gutierrez-Molina, M., Garcia-Rio, F., Perez-Conde, C., Martin, M. A., Rubio, J. C., Del Hoyo, P., Arpa-Fernandez, A., Arenas, J. (2003) Prevalence and progression of mitochondrial diseases: a study of 50 patients Muscle and Nerve . 28 (6): 690-695 .


• Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 .


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


• Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 .


• Opdal, S. H., Rognum, T. O. (2004) The sudden infant death syndrome gene: does it exist? Pediatrics . 114 (4): e506-512 .