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  • Title: [Marinesco-Sjögren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation].
    Author: Berio A, Piazzi A.
    Journal: Pediatr Med Chir; 1996; 18(1):99-103. PubMed ID: 8685033.
    Abstract:
    A case of Marinesco-Sjögren syndrome (ataxia, cataracts, retarded somatic and mental maturation, spasticity) with myopathy, hyperlactacidaemia, hypopyruvicaemia, chronic progressive external ophthalmoplegia was reported and relationships with the cerebellar ataxias of unknown aetiology discussed. In the personal case of Marinesco-Sjögren syndrome with hyperlactacidaemia and hypopyruvicaemia a defective oxidative phosphorylation in mitochondria is supposed.
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