MITOMAP References for Mutation T-C at 8993

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1 8395787 1993 De Vries, D.D., Van Engelen, B.G., Gabreels, F.J., Ruitenbeek, W., Van Oost, B.A. (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome Annals of Neurology . 34 (3): 410-412 .
2 8190310 1994 Santorelli, F.M., Shanske, S., Jain, K.D., Tick, D., Schon, E.A., DiMauro, S. (1994) A T-C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome Neurology . 44 (5): 972-974 .
3 9568930 1998 Fujii, T., Hattori, H., Higuchi, Y., Tsuji, M., Mitsuyoshi, I. (1998) Phenotypic differences between T-C and T-G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome Pediatric Neurology . 18 (3): 275-277 .
4 9701486 1998 Mak, S.C., Chi, C.S., Tsai, C.R. (1998) Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure Journal of Child Neurology . 13 (7): 349-351 .
5 9762610 1998 Chakrapani, A., Heptinstall, L., Walter, J. (1998) A family with Leigh syndrome caused by the rarer T8993C mutation Journal of Inherited Metabolic Disease . 21 (6): 685-686 .
6 9870208 1998 Vazquez-Memije, M.E., Shanske, S., Santorelli, F.M., Kranz-Eble, P., DeVivo, D.C., DiMauro, S. (1998) Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations Journal of Inherited Metabolic Disease . 21 (8): 829-836 .
7 8687192 1996 DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 .
8 8602753 1996 Rahman, S., Blok, R.B., Dahl, H.H., Danks, D.M., Kirby, D.M., Chow, C.W., Christodoulou, J., Thorburn, D.R. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities Annals of Neurology . 39 (3): 343-351 .
9 10417290 1999 White, S. L., Collins, V. R., Wolfe, R., Cleary, M. A., Shanske, S., DiMauro, S., Dahl, H. H., Thorburn, D. R. (1999) Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 American Journal of Human Genetics . 65 (2): 474-482 .
10 10862082 2000 Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 .
11 11074292 2000 Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N., Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics . 16 (11): 500-505 .
12 23297368 2013 Samuels, D. C., Wonnapinij, P., Chinnery, P. F. (2013) Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer? Human Reproduction (Oxford, England) . 28 (3): 554-559 .
13 25192510 2014 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
14 26404827 2015 Lightowlers, R. N., Taylor, R. W., Turnbull, D. M. (2015) Mutations causing mitochondrial disease: What is new and what challenges remain? Science . 349 (6255): 1494-1499 .
15 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 .
16 NA 2020 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 .
17 14748908 2004 Marotta, R., Chin, J., Quigley, A., Katsabanis, S., Kapsa, R., Byrne, E., Collins, S. (2004) Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001 Internal Medicine Journal . 34 (40545): 10-19 .
18 15324306 2004 Pallotti, F., Baracca, A., Hernandez-Rosa, E., Walker, W. F., Solaini, G., Lenaz, G., Melzi D'Eril, G. V., Dimauro, S., Schon, E. A., Davidson, M. M. (2004) Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations Biochemical Journal . 384 (Pt 2): 287-293 .
19 10222646 1999 Alves-Silva, J., Santos, M. S., Pena, S. D., Prado, V. F. (1999) Multiple geographic sources of region V 9-bp deletion haplotypes in Brazilians Human Biology . 71 (2): 245-259 .
20 17568559 2007 Baracca, A., Sgarbi, G., Mattiazzi, M., Casalena, G., Pagnotta, E., Valentino, M. L., Moggio, M., Lenaz, G., Carelli, V., Solaini, G. (2007) Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 Biochimica et Biophysica Acta . 1767 (7): 913-919 .
21 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
22 15466086 2004 Scaglia, F., Towbin, J. A., Craigen, W. J., Belmont, J. W., Smith, E. O., Neish, S. R., Ware, S. M., Hunter, J. V., Fernbach, S. D., Vladutiu, G. D., Wong, L. J., Vogel, H. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics . 114 (4): 925-931 .
23 18496570 2008 Kyriakouli, D. S., Boesch, P., Taylor, R. W., Lightowlers, R. N. (2008) Progress and prospects: gene therapy for mitochondrial DNA disease Gene Therapy . 15 (14): 1017-1023 .
24 18055910 2007 Craig, K., Elliott, H. R., Keers, S. M., Lambert, C., Pyle, A., Graves, T. D., Woodward, C., Sweeney, M. G., Davis, M. B., Hanna, M. G., Chinnery, P. F. (2007) Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation Journal of Medical Genetics . 44 (12): 797-799 .
25 16532470 2006 Morava, E., Rodenburg, R. J., Hol, F., de Vries, M., Janssen, A., van den Heuvel, L., Nijtmans, L., Smeitink, J. (2006) Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations American Journal of Medical Genetics. Part A . 140 (8): 863-868 .
26 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 .
27 20123042 2010 Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L., Qi, Y. (2010) Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies Mitochondrion . 10 (4): 330-334 .
28 19747204 2010 Verity, C. M., Winstone, A. M., Stellitano, L., Krishnakumar, D., Will, R., McFarland, R. (2010) The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study Developmental Medicine and Child Neurology . 52 (5): 434-140 .
29 17403843 2007 Debray, F. G., Lambert, M., Chevalier, I., Robitaille, Y., Decarie, J. C., Shoubridge, E. A., Robinson, B. H., Mitchell, G. A. (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases Pediatrics . 119 (4): 722-733 .
30 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 .
31 24153443 2013 Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. (2013) Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations Neurology . 81 (21): 1810-1818 .
32 16049925 2005 Rantamaki, M. T., Soini, H. K., Finnila, S. M., Majamaa, K., Udd, B. (2005) Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation Annals of Neurology . 58 (2): 337-340 .
33 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 .
34 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 .
35 29512743 2018 Weerasinghe, C. A. L., Bui, B. T., Vu, T. T., Nguyen, H. T., Phung, B. K., Nguyen, V. M., Pham, V. A., Cao, V. H., Phan, T. N. (2018) Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family Molecular Medicine Reports . 17 (5): 6919-6925 .
36 19875463 2010 D'Aurelio, M., Vives-Bauza, C., Davidson, M. M., Manfredi, G. (2010) Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells Human Molecular Genetics . 19 (2): 374-386 .
37 10467733 1999 Hartzog, P. E., Gardner, J. L., Cain, B. D. (1999) Modeling the Leigh syndrome nt8993 T-->C mutation in Escherichia coli F1F0 ATP synthase International Journal of Biochemistry and Cell Biology . 31 (7): 769-776 .
38 30128709 2018 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
39 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
40 32042921 2020 Stendel, C., Neuhofer, C., Floride, E., Yuqing, S., Ganetzky, R. D., Park, J., Freisinger, P., Kornblum, C., Kleinle, S., Schols, L., Distelmaier, F., Stettner, G. M., Buchner, B., Falk, M. J., Mayr, J. A., Synofzik, M., Abicht, A., Haack, T. B., Prokisch, H., Wortmann, S. B., Murayama, K., Fang, F., Klopstock, T., Group, A. T. P. S. (2020) Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration Neurology. Genetics . 6 (1): e393 .
41 31996241 2020 Schubert Baldo, M., Vilarinho, L. (2020) Molecular basis of Leigh syndrome: a current look Orphanet Journal of Rare Diseases . 15 (1): 31 .
42 31187502 2019 Ng, Y. S., Martikainen, M. H., Gorman, G. S., Blain, A., Bugiardini, E., Bunting, A., Schaefer, A. M., Alston, C. L., Blakely, E. L., Sharma, S., Hughes, I., Lim, A., de Goede, C., McEntagart, M., Spinty, S., Horrocks, I., Roberts, M., Woodward, C. E., Chinnery, P. F., Horvath, R., Nesbitt, V., Fratter, C., Poulton, J., Hanna, M. G., Pitceathly, R. D. S., Taylor, R. W., Turnbull, D. M., McFarland, R. (2019) Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Annals of Neurology . 86 (2): 310-315 .
43 18620007 2009 Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 .
44 17323145 2007 Zhang, Y., Yang, Y. L., Sun, F., Cai, X., Qian, N., Yuan, Y., Wang, Z. X., Qi, Y., Xiao, J. X., Wang, X. Y., Zhang, Y. H., Jiang, Y. W., Qin, J., Wu, X. R. (2007) Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome Journal of Inherited Metabolic Disease . 30 (2): 265 .
45 33064405 2020 Vellers, H. L., Verhein, K. C., Burkholder, A. B., Lee, J., Kim, Y., Lightfoot, J. T., Shi, M., Weinberg, C. R., Sarzynski, M. A., Bouchard, C., Kleeberger, S. R. (2020) Association between mitochondrial DNA sequence variants and V O2 max trainability Medicine and Science in Sports and Exercise . 52 (11): 2303-2309 .
46 19160410 2009 Vazquez-Memije, M. E., Rizza, T., Meschini, M. C., Nesti, C., Santorelli, F. M., Carrozzo, R. (2009) Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene Journal of Cellular Biochemistry . 106 (5): 878-886 .
47 29101127 2018 Sofou, K., de Coo, I. F. M., Ostergaard, E., Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lonnqvist, T., Bindoff, L. A., Tulinius, M., Darin, N. (2018) Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients Journal of Medical Genetics . 55 (1): 21-27 .
48 33717984 2021 Loos, M. A., Gomez, G., Mayorga, L., Caraballo, R. H., Eiroa, H. D., Obregon, M. G., Rugilo, C., Lubieniecki, F., Taratuto, A. L., Saccoliti, M., Alonso, C. N., Araoz, H. V. (2021) Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients Molecular Genetics and Metabolism Reports . 27 (): 100733 .
49 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 .