MITOMAP References for RNA Mutation C1624T

• McFarland, R., Clark, K. M., Morris, A. A., Taylor, R. W., Macphail, S., Lightowlers, R. N., Turnbull, D. M. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation Nature Genetics . 30 (2): 145-146 .


• Rorbach, J., Yusoff, A. A., Tuppen, H., Abg-Kamaludin, D. P., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Turnbull, D. M., McFarland, R., Lightowlers, R. N. (2008) Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation Nucleic Acids Research . 36 (9): 3065-3074 .


• Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .