MITOMAP References for RNA Mutation A3243T

• Shaag, A., Saada, A., Steinberg, A., Navon, P., Elpeleg, O. N. (1997) Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T) Biochemical and Biophysical Research Communications . 233 (3): 637-639 .


• 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 .


• Pyle, A., Taylor, R. W., Durham, S. E., Deschauer, M., Schaefer, A. M., Samuels, D. C., Chinnery, P. F. (2007) Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation Journal of Medical Genetics . 44 (1): 69-74 .


• Longo, N., Schrijver, I., Vogel, H., Pique, L. M., Cowan, T. M., Pasquali, M., Steinberg, G. K., Hedlund, G. L., Ernst, S. L., Gallagher, R. C., Enns, G. M. (2008) Progressive cerebral vascular degeneration with mitochondrial encephalopathy American Journal of Medical Genetics . 146 (3): 361-367 .


• Alston, C. L., Bender, A., Hargreaves, I. P., Mundy, H., Deshpande, C., Klopstock, T., McFarland, R., Horvath, R., Taylor, R. W. (2010) The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype Neuromuscular Disorders . 20 (6): 403-406 .