Article
Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome.
Clinical biochemistry - 1 Jan 2000
Florez Ingrid, Pirrone Irune, Casique Liliana, Domínguez Carmen Luisa, Mahfoud Antonieta, Rodríguez Tania, Rodríguez Daniel, De Lucca Marisel, Ramírez José Luis
Abstract excerpt
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80 % of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome....
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