MITOMAP References for Variant G583A at 583

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Index PMID Date Reference
1 9771776 1998 Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A., Wood, N. W. (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity Journal of Neurology, Neurosurgery and Psychiatry . 65 (4): 512-517 .
2 16806928 2006 Darin, N., Kollberg, G., Moslemi, A. R., Tulinius, M., Holme, E., Gronlund, M. A., Andersson, S., Oldfors, A. (2006) Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene Neuromuscular Disorders . 16 (8): 504-506 .
3 17878308 2007 Ling, J., Roy, H., Qin, D., Rubio, M. A., Alfonzo, J. D., Fredrick, K., Ibba, M. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome Proceedings of the National Academy of Sciences . 104 (39): 15299-15304 .
4 19718780 2009 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 .
5 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .