MITOMAP References for Variant G12316A at 12316

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Index PMID Date Reference
1 18603265 2008 Cardaioli, E., Da Pozzo, P., Malfatti, E., Gallus, G. N., Rubegni, A., Malandrini, A., Gaudiano, C., Guidi, L., Serni, G., Berti, G., Dotti, M. T., Federico, A. (2008) Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA Journal of the Neurological Sciences . 272 (40545): 106-109 .
2 20163808 2010 Ronchi, D., Virgilio, R., Bordoni, A., Fassone, E., Sciacco, M., Ciscato, P., Moggio, M., Govoni, A., Corti, S., Bresolin, N., Comi, G. P. (2010) The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment Journal of the Neurological Sciences . 292 (1-2): 107-110 .
3 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .