MITOMAP References for Mutation T-C at 9185

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Index PMID Date Reference
1 16217706 2005 Moslemi, A. R., Darin, N., Tulinius, M., Oldfors, A., Holme, E. (2005) Two new mutations in the MTATP6 gene associated with Leigh syndrome Neuropediatrics . 36 (5): 314-8 .
2 17352390 2007 Castagna, A. E., Addis, J., McInnes, R. R., Clarke, J. T., Ashby, P., Blaser, S., Robinson, B. H. (2007) Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA American Journal of Medical Genetics . 143A (8): 808-816 .
3 18461509 2007 Childs, A. M., Hutchin, T., Pysden, K., Highet, L., Bamford, J., Livingston, J., Crow, Y. J. (2007) Variable phenotype including Leigh Syndrome with a 9185T>C mutation in the mtATP6 gene Neuropediatrics . 38 (6): 313-316 .
4 19747204 2010 Verity, C. M., Winstone, A. M., Stellitano, L., Krishnakumar, D., Will, R., McFarland, R. (2010) The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study Developmental Medicine and Child Neurology . 52 (5): 434-140 .
5 20546952 2010 Saneto, R. P., Singh, K. K. (2010) Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C Mitochondrion . 10 (5): 567-572 .
6 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
7 21473984 2011 Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Frydman, N., Steffann, J. (2011) Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans American Journal of Human Genetics . 88 (4): 494-498 .
8 22577227 2012 Pfeffer, G., Blakely, E. L., Alston, C. L., Hassani, A., Boggild, M., Horvath, R., Samuels, D. C., Taylor, R. W., Chinnery, P. F. (2012) Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations Journal of Neurology, Neurosurgery and Psychiatry 83 (9): 883-886
9 22933740 2012 Pitceathly, R. D., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C., Mudanohwo, E. E., Hargreaves, I., Heales, S., Land, J., Holton, J. L., Houlden, H., Blake, J., Champion, M., Flinter, F., Robb, S. A., Page, R., Rose, M., Palace, J., Crowe, C., Longman, C., Lunn, M. P., Rahman, S., Reilly, M. M., Hanna, M. G. (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease Neurology . 79 (11): 1145-1154 .
10 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 .
11 24153443 2013 Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. (2013) Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations Neurology . 81 (21): 1810-1818 .
12 25548692 2014 Brum, M., Semedo, C., Guerreiro, R., Pinto Marques, J. (2014) Motor neuron syndrome as a new phenotypic manifestation of mutation 9185T>C in gene mtATP6 Case Reports in Neurological Medicine 2014 (): 701761 .
13 29228836 2018 Pelnena, D., Burnyte, B., Jankevics, E., Lace, B., Dagyte, E., Grigalioniene, K., Utkus, A., Krumina, Z., Rozentale, J., Adomaitiene, I., Stavusis, J., Pliss, L., Inashkina, I. (2018) Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis . 29 (7): 1115-1120 .