MITOMAP References for Variant C15990T at 15990

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PMID Reference
8190311 Ionasescu, V. V., Hart, M., DiMauro, S., Moraes, C. T. (1994) Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene Neurology . 44 (5): 975-977 .
7689388 Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A., DiMauro, S. (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease Nature Genetics . 4 (3): 284-288 .
9421512 Brule, H., Holmes, W. M., Keith, G., Giege, R., Florentz, C. (1998) Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern Nucleic Acids Research . 26 (2): 537-543 .
19718780 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 .
32305257 Joshi, P. R., Baty, K., Hopton, S., Cordts, I., Falkous, G., Schoser, B., Blakely, E. L., Taylor, R. W., Deschauer, M. (2020) Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA(Pro)) gene variant Neuromuscular Disorders . 30 (4): 346-350 .