MITOMAP References for Variant G-A at 10197

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18800376 Bandelt, H. J., Salas, A., Taylor, R. W., Yao, Y. G. (2009) Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches Human Mutation . 30 (2): 191-196 .
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 .
17413873 Chae, J. H., Lee, J. S., Kim, K. J., Hwang, Y. S., Bonilla, E., Tanji, K., Hirano, M. (2007) A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency Pediatric Research . 61 (5, Part 1): 622-624 .
32045392 Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 .
30899856 Fantini, M., Asanad, S., Karanjia, R., Sadun, A. (2019) Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo Journal of Current Opththalmology . 31 (1): 102-105 .
30978515 Finsterer, J. (2019) Diagnostic and therapeutic aspects of Leigh syndrome due to the variant m.10197G>A Journal of the Neurological Sciences . 400 (): 182-183 .
11130070 Ingman, M., Kaessmann, H., Paabo, S., Gyllensten, U. (2000) Mitochondrial genome variation and the origin of modern humans Nature . 408 (6813): 708-713 .
15372108 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 .
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 .
21978175 Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J., Curran, J. E. (2011) Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins BMC Evolutionary Biology . 11 (): 293 .
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 .
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 .
12509511 Mishmar, D., Ruiz-Pesini, E. E., Golik, P., Macaulay, V., Clark, A. G., Hosseini, S., Brandon, M., Easley, K., Chen, E., Brown, M. D., Sukernik, R. I., Olckers, A., Wallace, D. C. (2003) Natural selection shaped regional mtDNA variation in humans Proceedings of the National Academy of Sciences of the United States of America . 100 (1): 171-176 .
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 .
NA Pereira, C., de Souza, C. F., Vedolin, L., Vairo, F., Lorea, C., Sobreira, C., Nogueira, C., Vilarinho, L. (2019) Leigh syndrome due to mtDNA pathogenic variants Journal of Inborn Errors of Metabolism and Screening . 7 (): e20180003; doi:10.1590/2326-4594-jiems-2018-0003 .
17152068 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 .
30978516 Severino, M., Nesti, C., Rubegni, A., Tolomeo, D., Santorelli, F. M. (2019) The features of the m.10197G>A mtDNA mutation Journal of the Neurological Sciences . 400 (): 184-185 .
30199507 Solyman, O., MacIntosh, P. (2019) Leber hereditary optic neuropathy in a mother and faughter associated with m.10197G>A mutation Journal of Neuro-Ophthalmology . 39 (1): 142 .
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 .
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 .
19458970 Wang, K., Takahashi, Y., Gao, Z. L., Wang, G. X., Chen, X. W., Goto, J., Lou, J. N., Tsuji, S. (2009) Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia Neurogenetics . 10 (4): 337-345 .
30128709 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
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 .