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 8687192 1996 DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 .
4 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 .
5 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 .
6 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 .
7 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 .
8 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 .
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 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 .
13 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 .
14 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 .
15 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 .
16 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 .
17 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 .
18 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 .
19 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
20 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 .
21 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 .
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 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 .
24 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 .
25 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 .
26 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 .
27 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 .
28 25192510 2014 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
29 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 .