MITOMAP References for RNA Mutation T3250C

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Index PMID Date Reference
1 1514779 1992 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 .
2 9003864 1997 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 .
3 NA 1999 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 .
4 12160969 2002 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 .
5 12729737 2003 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 .
6 14639582 2003 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 .
7 15466077 2004 Opdal, S. H., Rognum, T. O. (2004) The sudden infant death syndrome gene: does it exist? Pediatrics . 114 (4): e506-512 .
8 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
9 15870203 2005 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 .
10 21364701 2011 Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 .
11 29161289 2017 Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 .
12 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 .