MITOMAP References for Variant C-A at 4171

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Index PMID Date Reference
1 12112111 2002 Kim, J. Y., Hwang, J. M., Park, S. S. (2002) Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis Annals of Neurology . 51 (5): 630-634 .
2 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 .
3 NA 2007 Cui, S. L., Yang, L., Wang, W., Shang, J., Zhang, X. J. (2007) [Rare primary mt-DNA mutations in Leber hereditary optic neuropathy] Ophthalmology in China . 16 (6): 382-385 .
4 19555656 2009 Yang, J., Zhu, Y., Chen, L., Zhang, H., Tong, Y., Huang, D., Zhang, Z., Chen, S., Han, X., Ma, X. (2009) Novel A14841G mutation is associated with high penetrance of LHON/C4171A family Biochemical and Biophysical Research Communications . 386 (4): 693-696 .
5 19616643 2009 Maliniemi, P., Kervinen, M., Hassinen, I. E. (2009) Modeling of human pathogenic mutations in Escherichia coli complex I reveals a sensitive region in the fourth inside loop of NuoH Mitochondrion . 9 (6): 394-401 .
6 20491810 2010 Seo, J. H., Hwang, J. M., Park, S. S. (2010) Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy Clinical and Experimental Ophthalmology . 38 (4): 363-366 .
7 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 .
8 22879922 2012 Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A., Carelli, V. (2012) Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy PLOS One . 7 (8): e42242 .
9 24884847 2014 La Morgia, C., Caporali, L., Gandini, F., Olivieri, A., Toni, F., Nassetti, S., Brunetto, D., Stipa, C., Scaduto, C., Parmeggiani, A., Tonon, C., Lodi, R., Torroni, A., Carelli, V. (2014) Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions BMC Neurology . 14 (): 116 .
10 29253894 2017 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 .
11 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 .
12 32045392 2020 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 .
13 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutation . 41 (10): .
14 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): .
15 34670133 2021 Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N., Mackey, D. A. (2021) Establishing risk of vision loss in Leber hereditary optic neuropathy American Journal of Human Genetics . 108 (11): 2159-2170 .
16 35104579 2022 Gowri, P., Sathish, P., Mahesh Kumar, S., Sundaresan, P. (2022) Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India Gene . 819 (): 146202 .