MITOMAP References for Mutation G-A at 13513

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Index PMID Date Reference
1 9299505 1997 Santorelli, F.M., Tanji, K., Kulikova, R., Shanske, S., Vilarinho, L., Hays, A.P., DiMauro, S. (1997) Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS Biochemical and Biophysical Research Communications . 238 (2): 326-328 .
2 10589546 1999 Pulkes, T., Eunson, L., Patterson, V., Siddiqui, A., Wood, N. W., Nelson, I. P., Morgan-Hughes, J. A., Hanna, M. G. (1999) The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS Annals of Neurology . 46 (6): 916-919 .
3 10908920 2000 Penisson-Besnier, I., Reynier, P., Asfar, P., Douay, O., Sortais, A., Dubas, F., Emile, J., Malthiery, Y. (2000) Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation Neurology . 55 (2): 317-318 .
4 11198278 2001 Corona, P., Antozzi, C., Carrara, F., D'Incerti, L., Lamantea, E., Tiranti, V., Zeviani, M. (2001) A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients Annals of Neurology . 49 (1): 106-110 .
5 12624137 2003 Chol, M., Lebon, S., Benit, P., Chretien, D., de Lonlay, P., Goldenberg, A., Odent, S., Hertz-Pannier, L., Vincent-Delorme, C., Cormier-Daire, V., Rustin, P., Rotig, A., Munnich, A. (2003) The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency Journal of Human Genetics . 40 (3): 188-191 .
6 14520659 2003 Kirby, D. M., Boneh, A., Chow, C. W., Ohtake, A., Ryan, M. T., Thyagarajan, D., Thorburn, D. R. (2003) Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease Annals of Neurology . 54 (4): 473-478 .
7 14730434 2004 Sudo, A., Honzawa, S., Nonaka, I., Goto, Y. (2004) Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan Journal of Human Genetics . 49 (2): 92-96 .
8 15382008 2004 Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V., Moral, P., Dugoujon, J. M., Roostalu, U., Loogvali, E. L., Kivisild, T., Bandelt, H. J., Richards, M., Villems, R., Santachiara-Benerecetti, A. S., Semino, O., Torroni, A. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool American Journal of Human Genetics . 75 (5): 910-918 .
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 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 .
11 16483543 2006 Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 .
12 17400793 2007 Blok, M. J., Spruijt, L., de Coo, I. F., Schoonderwoerd, K., Hendrickx, A., Smeets, H. J. (2007) Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease Journal of Medical Genetics . 44 (4): e74 .
13 18332249 2008 Shanske, S., Coku, J., Lu, J., Ganesh, J., Krishna, S., Tanji, K., Bonilla, E., Naini, A. B., Hirano, M., DiMauro, S. (2008) The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases Archives of Neurology . 65 (3): 368-372 .
14 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
15 18495510 2008 Brautbar, A., Wang, J., Abdenur, J. E., Chang, R. C., Thomas, J. A., Grebe, T. A., Lim, C., Weng, S. W., Graham, B. H., Wong, L. J. (2008) The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle Molecular Genetics and Metabolism . 94 (4): 485-490 .
16 18674747 2008 Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 .
17 19054921 2008 Wang, S. B., Weng, W. C., Lee, N. C., Hwu, W. L., Fan, P. C., Lee, W. T. (2008) Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy Pediatrics and Neonatology . 49 (4): 145-149 .
18 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 .
19 19268652 2009 Carelli, V., La Morgia, C., Valentino, M. L., Barboni, P., Ross-Cisneros, F. N., Sadun, A. A. (2009) Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders Biochimica et Biophysica Acta . 1787 (5): 518-528 .
20 19370763 2009 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
21 19617458 2009 Lim, B. C., Park, J. D., Hwang, H., Kim, K. J., Hwang, Y. S., Chae, J. H., Cheon, J. E., Kim, I. O., Lee, R., Moon, H. K. (2009) Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies Journal of Child Neurology . 24 (7): 828-832 .
22 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 .
23 20408961 2010 Wang, Z., Qi, X. K., Yao, S., Chen, B., Luan, X., Zhang, W., Han, M., Yuan, Y. (2010) Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case Neuropathology . 30 (6): 606-614 .
24 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 .
25 21174521 2011 Hsieh, Y. T., Yang, M. T., Peng, Y. J., Hsu, W. C. (2011) Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation--case report and literature review Ophthalmic Genetics . 32 (1): 31-38 .
26 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 .
27 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 .
28 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 .
29 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 .
30 25192510 2014 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
31 24667782 2015 Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 .