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A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: federico a. Neuromuscul Disord. 2007 Oct;17(9-10):681-3. doi: 10.1016/j.nmd.2007.05.001. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614276
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: federico a. 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.
1,187 results