MITOMAP References for Mutation T-C at 14487

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1 17535832 2007 Malfatti, E., Bugiani, M., Invernizzi, F., de Souza, C. F., Farina, L., Carrara, F., Lamantea, E., Antozzi, C., Confalonieri, P., Sanseverino, M. T., Giugliani, R., Uziel, G., Zeviani, M. (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy Brain . 130 (Pt 7): 1894-1904 .
2 24126373 2013 Spyropoulos, A., Manford, M., Horvath, R., Alston, C. L., Yu-Wai-Man, P., He, L., Taylor, R. W., Chinnery, P. F. (2013) Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy JAMA Neurolology . 70 (12): 1552-1555 .
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 .
4 23010433 2012 Martinelli, D., Catteruccia, M., Piemonte, F., Pastore, A., Tozzi, G., Dionisi-Vici, C., Pontrelli, G., Corsetti, T., Livadiotti, S., Kheifets, V., Hinman, A., Shrader, W. D., Thoolen, M., Klein, M. B., Bertini, E., Miller, G. (2012) EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome Molecular Genetics and Metabolism . 107 (3): 383-388 .
5 14595656 2003 Ugalde, C., Triepels, R. H., Coenen, M. J., van den Heuvel, L. P., Smeets, R., Uusimaa, J., Briones, P., Campistol, J., Majamaa, K., Smeitink, J. A., Nijtmans, L. G. (2003) Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene Annals of Neurology . 54 (5): 665-669 .
6 14520668 2003 Solano, A., Roig, M., Vives-Bauza, C., Hernandez-Pena, J., Garcia-Arumi, E., Playan, A., Lopez-Perez, M. J., Andreu, A. L., Montoya, J. (2003) Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene Annals of Neurology . 54 (4): 527-530 .
7 14684687 2003 Lebon, S., Chol, M., Benit, P., Mugnier, C., Chretien, D., Giurgea, I., Kern, I., Girardin, E., Hertz-Pannier, L., de Lonlay, P., Rotig, A., Rustin, P., Munnich, A. (2003) Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Journal of Medical Genetics . 40 (12): 896-899 .
8 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
9 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
10 15576045 2004 Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., Uziel, G., Zeviani, M. (2004) Clinical and molecular findings in children with complex I deficiency Biochimica et Biophysica Acta . 1659 (40577): 136-147 .
11 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .
12 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
13 20019223 2010 Dermaut, B., Seneca, S., Dom, L., Smets, K., Ceulemans, L., Smet, J., De Paepe, B., Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Parizel, P., De Bleecker, J. L., Boon, P., De Meirleir, L., De Jonghe, P., Van Coster, R., Van Paesschen, W., Santens, P. (2010) Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C Journal of Neurology, Neurosurgery and Psychiatry . 81 (1): 90-93 .
14 19062322 2009 Wang, J., Brautbar, A., Chan, A. K., Dzwiniel, T., Li, F. Y., Waters, P. J., Graham, B. H., Wong, L. J. (2009) Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family Molecular Genetics and Metabolism . 96 (2): 59-65 .
15 16337195 2005 Gonzalo, R., Garcia-Arumi, E., Llige, D., Marti, R., Solano, A., Montoya, J., Arenas, J., Andreu, A. L. (2005) Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA FEBS Letters . 579 (30): 6909-6913 .
16 20972245 2011 Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 .
17 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 .
18 21196529 2011 Leshinsky-Silver, E., Shuvalov, R., Inbar, S., Cohen, S., Lev, D., Lerman-Sagie, T. (2011) Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence Journal of Child Neurology . 26 (4): 476-481 .
19 15625630 2004 Raspall-Chaure, M., Solano, A., Vazquez, E., Macaya-Ruiz, A., del Toro-Riera, M., Cabezuelo-Briones, A., Montoya, J., Andreu, A., Roig-Quilis, M. (2004) [A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain] Revista de Neurologia . 39 (12): 1129-1132 .
20 16044424 2005 Esteitie, N., Hinttala, R., Wibom, R., Nilsson, H., Hance, N., Naess, K., Tear-Fahnehjelm, K., von Dobeln, U., Majamaa, K., Larsson, N. G. (2005) Secondary metabolic effects in complex I deficiency Annals of Neurology . 58 (4): 544-552 .
21 19103152 2009 Naess, K., Freyer, C., Bruhn, H., Wibom, R., Malm, G., Nennesmo, I., von Dobeln, U., Larsson, N. G. (2009) MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome Biochimica et Biophysica Acta . 1787 (5): 484-490 .
22 21364701 2011 Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 .
23 30095618 2018 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 .
24 29987491 2018 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 .
25 30128709 2018 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
26 30461153 2019 Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 .
27 28122886 2017 Sallevelt, S. C., Dreesen, J. C., Drusedau, M., Hellebrekers, D. M., Paulussen, A. D., Coonen, E., van Golde, R. J., Geraedts, J. P., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J., de Die-Smulders, C. E. (2017) PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy Human Reproduction . 32 (3): 698-703 .
28 23813926 2013 Tarnopolsky, M., Meaney, B., Robinson, B., Sheldon, K., Boles, R. G. (2013) Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C American Journal of Medical Genetics. Part A . 161A (8): 2020-2023 .
29 33706792 2021 Rabenstein, A., Catarino, C. B., Rampeltshammer, V., Schindler, D., Gallenmuller, C., Priglinger, C., Pogarell, O., Ruther, T., Klopstock, T. (2021) Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's hereditary optic neuropathy mutation carriers: a prospective cohort study Orphanet Journal of Rare Diseases . 16 (1): 127 .
30 26530508 2015 Eckenweiler, M., Catarino, C. B., Gallenmueller, C., Klopstock, T., Lagreze, W. A., Korinthenberg, R., Kirschner, J. (2015) Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy Journal of Neurology . 262 (12): 2776-2779 .
31 32162843 2020 Chen, D., Zhao, Q., Xiong, J., Lou, X., Han, Q., Wei, X., Xie, J., Li, X., Zhou, H., Shen, L., Yang, Y., Fang, H., Lyu, J. (2020) Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency Molecular Genetics and Genomic Medicine . 8 (5): e1199 .
32 34223155 2021 Khoo, A., Naidu, S., Wijayendran, S. B., Merve, A., Bremner, F., Sidhu, M. K. (2021) Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C BMJ Neurology Open . 3 (1): e000180 .
33 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 .
34 28429146 2017 Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 .