[Marinesco-Sjögren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation].
作者信息
Berio A, Piazzi A
机构信息
Cattedra di Pediatria, Università di Genova, Italia.
出版信息
Pediatr Med Chir. 1996 Jan-Feb;18(1):99-103.
PMID: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.
摘要
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