MITOMAP References for Variant G-A at 3890

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PMID Reference
23847141 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 .
23246842 Caporali, L., Ghelli, A. M., Iommarini, L., Maresca, A., Valentino, M. L., La Morgia, C., Liguori, R., Zanna, C., Barboni, P., De Nardo, V., Martinuzzi, A., Rizzo, G., Tonon, C., Lodi, R., Calvaruso, M. A., Cappelletti, M., Porcelli, A. M., Achilli, A., Pala, M., Torroni, A., Carelli, V. (2013) Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions Biochimica et Biophysica Acta . 1832 (3): 445-452 .
30095618 Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 .
18504678 Moslemi, A. R., Darin, N., Tulinius, M., Wiklund, L. M., Holme, E., Oldfors, A. (2008) Progressive encephalopathy and complex I deficiency associated with mutations in MTND1 Neuropediatrics . 39 (1): 24-28 .
27798429 Murray, J. J., Nolan, K. W., McClelland, C., Lee, M. S. (2017) Leber hereditary optic neuropathy: visual recovery in a patient with the rare m.3890G>A point mutation Journal of Neuro-Ophthalmology . 37 (2): 166-171 .
29987491 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
29253894 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .