[Marinesco-Sjögren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation].
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.
Berio
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Cattedra di Pediatria, Università di Genova, Italia.
Piazzi
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D002524:Cerebellar Ataxia / Q000150:complications / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007773:Lactates / Q000097:blood; D008297:Male; D008931:Mitochondria, Muscle / Q000737:chemistry; D009886:Ophthalmoplegia / Q000209:etiology* / Q000473:pathology; D010085:Oxidative Phosphorylation; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D007773:Lactates
La sindrome di Marinesco-Sjögren con oftalmoplegia esterna cronica progressiva da presumibile alterazione della fosforilazione ossidativa.