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  • Title: [Leigh's syndrome and mitochondrial myopathy].
    Author: Nakase H.
    Journal: Nihon Rinsho; 1993 Sep; 51(9):2403-8. PubMed ID: 8411720.
    Abstract:
    Leigh's syndrome is a subacute encephalopathy with characteristic pathological features and lactic acidosis. This syndrome is due to the disturbance of aerobic metabolism. Pyruvate dehydrogenase deficiency and cytochrome c oxidase deficiency are common metabolic disturbances in this syndrome. Complex I or II deficiency has also been claimed. Recently, mutations of mitochondrial genome have been also identified in some cases with Leigh's syndrome: np 3243 T to C, np 8344 G to A and np 8993 T to G. The possible correlation between phenotype and genotype in this heterogeneous syndrome was discussed.
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