MITOMAP References for Variant G-A at 13051

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Index PMID Date Reference
1 12736867 2003 Howell, N., Oostra, R. J., Bolhuis, P. A., Spruijt, L., Clarke, L. A., Mackey, D. A., Preston, G., Herrnstadt, C. (2003) Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy American Journal of Human Genetics . 72 (6): 1460-1469 .
2 27164671 2016 Dombi, E., Diot, A., Morten, K., Carver, J., Lodge, T., Fratter, C., Ng, Y. S., Liao, C., Muir, R., Blakely, E. L., Hargreaves, I., Al-Dosary, M., Sarkar, G., Hickman, S. J., Downes, S. M., Jayawant, S., Yu-Wai-Man, P., Taylor, R. W., Poulton, J. (2016) The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy Neurology . 86 (20): 1921-1923 .
3 NA 2017 Lloria, X., Catarino, C., Downes, S., Vincent, A., Matloob, S., Silva, M., Klopstock, T. (2017) Clinical experience with idebenone in the treatment of patients harboring rare mutations related to Leber's hereditary optic neuropathy (LHON) Acta Ophthalmologica . 95 (S259): Abstract from the 2017 European Association for Vision and Eye Research Conference .
4 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutation . 41 (10): .