MITOMAP References for Mutation T-C at 10158

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1 22115768 2012 Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., Cohen, B. H., Amagata, A., Barnes, A., Kheifets, V., Shrader, W. D., Thoolen, M., Blankenberg, F., Miller, G. (2012) Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Molecular Genetics and Metabolism . 105 (1): 91-102 .
2 NA 2021 Bakare, A. B., Daniel, J., Stabach, J., Rojas, A., Bell, A., Henry, B., Iyer, S. (2021) Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders International Journal of Molecular Sciences . 22 (12): 6263 .
3 14764913 2004 Crimi, M., Papadimitriou, A., Galbiati, S., Palamidou, P., Fortunato, F., Bordoni, A., Papandreou, U., Papadimitriou, D., Hadjigeorgiou, G. M., Drogari, E., Bresolin, N., Comi, G. P. (2004) A new mitochondrial DNA mutation in ND3 gene causing severe Leigh Syndrome with early lethality Pediatric Research . 55 (5): 842-846 .
4 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 .
5 14705112 2004 McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., Taylor, R. W., Thorburn, D. R. (2004) De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency Annals of Neurology . 55 (1): 58-64 .
6 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 .
7 17152068 2006 Sarzi, E., Brown, M., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. (2006) A novel recurrent mtDNA mutation in ND3 gene causing Leigh syndrome and dystonia American Journal of Medical Genetics . 143A (1): 33-41 .
8 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
9 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 .
10 15372108 2004 Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H. H., Ryan, M. T., Thorburn, D. R. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Journal of Clinical Investigation . 114 (6): 837-845 .
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 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 .
14 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 .
15 24642831 2014 Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 .
16 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 .
17 28050007 2017 Mukai, M., Nagata, E., Mizuma, A., Yamano, M., Sugaya, K., Nishino, I., Goto, Y. I., Takizawa, S. (2017) Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like encephalopathy diagnosed based on the complete sequencing of mitochondrial DNA extracted from biopsied muscle without any myopathic changes Internal Medicine . 56 (1): 95-99
18 28883258 2017 Mukai, M., Nagata, E. (2017) Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 mutation with a normal muscle biopsy Internal Medicine . 56 (19): 2695
19 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 .
20 29237403 2017 Mezuki, S., Fukuda, K., Matsushita, T., Fukushima, Y., Matsuo, R., Goto, Y. I., Yasukawa, T., Uchiumi, T., Kang, D., Kitazono, T., Ago, T. (2017) Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report BMC Neurology . 17 (1): 217 .
21 27742419 2017 Grosso, S., Carluccio, M. A., Cardaioli, E., Cerase, A., Malandrini, A., Romano, C., Federico, A., Dotti, M. T. (2017) Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum Brain and Development . 39 (3): 261-265. Comments: Finsterer & Zarrouk-Mahjoub 2017 [PMID 27914863] and [PMID 28522224] .
22 27914863 2017 Finsterer, J., Zarrouk-Mahjoub, S. (2017) Epilepsia partialis continua in MELAS/Leigh overlap syndrome Brain and Development . 39 (4): 365 .
23 28522224 2017 Finsterer, J., Zarrouk-Mahjoub, S. (2017) MELAS/Leigh overlap syndrome due to the ND6 mutation m.10158T>C Brain and Development . 39 (8): 724 .
24 28916229 2018 Kouga, T., Takagi, M., Miyauchi, A., Shimbo, H., Iai, M., Yamashita, S., Murayama, K., Klein, M. B., Miller, G., Goto, T., Osaka, H. (2018) Japanese Leigh syndrome case treated with EPI-743 Brain and Development . 40 (2): 145-149. See comment by Finsterer & Zarrouk-Mahjoub 2018 [PMID 28916229]; also reply by Osaka and Kouga 2018 [PMID 29500099] .
25 29054334 2018 Finsterer, J., Zarrouk-Mahjoub, S. (2018) Is vatiquinone truly beneficial for Leigh syndrome? Brain and Development . 40 (5): 443. Comment on Kouga et al [PMID 28916229]; see also reply by Osaka and Kouga [PMID 29500099] .
26 29500099 2018 Osaka, H., Kouga, T. (2018) Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub Brain and Development . 40 (5): 444 .
27 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 .
28 30128709 2018 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
29 31996177 2020 Danhelovska, T., Kolarova, H., Zeman, J., Hansikova, H., Vaneckova, M., Lambert, L., Kucerova-Vidrova, V., Berankova, K., Honzik, T., Tesarova, M. (2020) Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I BMC Pediatr . 20 (1): 41 .
30 32371897 2020 Yamada, Y., Somiya, K., Miyauchi, A., Osaka, H., Harashima, H. (2020) Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene Scientific Reports . 10 (1): 7511 .
31 32504279 2020 Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 .
32 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 .