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The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. Di Fonzo A, et al. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409522 Free PMC article.
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V. Santoro L, et al. Among authors: di fonzo a. Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21. Neurogenetics. 2011. PMID: 20853184 Free PMC article.
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: di fonzo a. J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042. J Neurol Sci. 2011. PMID: 21689831 Free PMC article.
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP. Ronchi D, et al. Among authors: di fonzo a. Biochem Biophys Res Commun. 2011 Aug 26;412(2):245-8. doi: 10.1016/j.bbrc.2011.07.076. Epub 2011 Jul 27. Biochem Biophys Res Commun. 2011. PMID: 21819970
193 results