[A case of chronic progressive external ophthalmoplegia with severe scoliosis].
The Authors reports a case of myopathy with severe scoliosis which can be classified within the context of chronic progressive external ophthalmoplegia (CPEO) and discusses the complex etiopathogenetic, histological and clinical aspects of this mitochondrial myopathy. In particular, they underlines the severity of the scoliosis and muscular, bone and respiratory symptoms in this case and the important role played by histological, histochemical and biochemical aspects in the diagnosis.
Berio
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A
Cattedra di Pediatria, Università di Genova.
Piazzi
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A
D000293:Adolescent; D004569:Electroencephalography; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D012600:Scoliosis / Q000209:etiology*
Su di un caso di oftalmoplegia esterna cronica progressiva con grave scoliosi.