MITOMAP References for RNA Mutation G583A

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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 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 .
4 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 .