MITOMAP References for Variant T-C at 14487

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18402672 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
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 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
15576045 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 .
32162843 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 .
20019223 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 .
26530508 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 .
16044424 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 .
16337195 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 .
34223155 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 .
30461153 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 .
14684687 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 .
20972245 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 .
21196529 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 .
NA 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 .
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 .
17535832 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 .
23010433 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 .
15972314 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 .
19103152 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 .
20064630 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 .
28429146 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 .
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 .
21457906 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 .
33706792 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 .
15625630 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 .
28122886 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 .
14520668 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 .
24126373 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 .
21364701 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 .
23813926 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 .
14595656 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 .
18977334 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 .
19062322 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 .
30128709 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .