MITOMAP References for RNA Mutation G8342A

• Tiranti, V., Carrara, F., Confalonieri, P., Mora, M., Maffei, R. M., Lamantea, E., Zeviani, M. (1999) A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus Neuromuscular Disorders . 9 (2): 66-71 .


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


• Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .


• 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 .