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A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F. Chamkha I, et al. Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6. Biochem Biophys Res Commun. 2011. PMID: 21144833
A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss.
Mkaouar-Rebai E, Chamkha I, Kammoun T, Alila-Fersi O, Aloulou H, Hachicha M, Fakhfakh F. Mkaouar-Rebai E, et al. Biochem Biophys Res Commun. 2013 Jan 11;430(2):585-91. doi: 10.1016/j.bbrc.2012.11.109. Epub 2012 Dec 5. Biochem Biophys Res Commun. 2013. PMID: 23219819
54 results