MITOMAP References for RNA Mutation T5543C

• Taivassalo, T., Shoubridge, E. A., Chen, J., Kennaway, N. G., DiMauro, S., Arnold, D. L., Haller, R. G. (2001) Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects Annals of Neurology . 50 (2): 133-141 .


• Anitori, R., Manning, K., Quan, F., Weleber, R. G., Buist, N. R., Shoubridge, E. A., Kennaway, N. G. (2005) Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes Molecular Genetics and Metabolism . 84 (2): 176-188 .


• Alston, C. L., He, L., Morris, A. A., Hughes, I., de Goede, C., Turnbull, D. M., McFarland, R., Taylor, R. W. (2011) Maternally inherited mitochondrial DNA disease in consanguineous families European Journal of Human Genetics . 19 (12): 1226-1229 .


• 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 .