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A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A. Da Pozzo P, et al. Among authors: zeviani m. Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 2009 Feb 18. Eur J Hum Genet. 2009. PMID: 19223931 Free PMC article.
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. Baruffini E, et al. Among authors: zeviani m. Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23929671 Free PMC article.
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. Brea-Calvo G, et al. Among authors: zeviani m. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023. Am J Hum Genet. 2015. PMID: 25658047 Free PMC article.
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: zeviani m. J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. J Neurol. 2015. PMID: 26566910 No abstract available.
469 results