Article
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.
Molecular genetics and metabolism - 1 Jul 2009
Mkaouar-Rebai Emna, Chamkha Imen, Kammoun Fatma, Kammoun Thouraya, Aloulou Hajer, Hachicha Mongia, Triki Chahnez, Fakhfakh Faiza
Abstract excerpt
Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes associated with LS in Tunisian patients. We sequenced the encoded complex I units: ND2, ND3,...
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