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Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Carlos T. Moraes, Federica Ciacci, Gabriella Silvestri, Sara Shanske, Monica Sciacco, Michio Hirano, Eric A. Schon, E. Bonilla, S. DiMauro

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Key concepts: MELAS syndrome, Mitochondrial DNA, Lactic acidosis, Chronic progressive external ophthalmoplegia, Mitochondrial Encephalomyopathies, Mutation, Mitochondrial myopathy, Biology

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Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA — Research Paper | ScholarLens