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[Early myoclonic encephalopathy and spinal muscular atrophy type I].

作者信息

Bado M, Bruno C, Morreale G, Parisi F, Minetti C, Cordone G

机构信息

Servizio Autonomo per la Diagnosi Cura e Prevenzione delle Malattie Muscolari, Istituto G. Gaslini, Università degli Studi, Genova.

出版信息

Minerva Pediatr. 1995 Jun;47(6):233-8.

PMID:7476749
Abstract

The authors describe the case of a floppy baby with the typical features of early myoclonic encephalopathy, represented by erratic and partial myoclonus of early onset and electroencephalographical suppression-burst pattern. Muscle biopsy made it possible to recognize an important neurogenic pattern, suggesting a severe form of spinal muscular atrophy. The association of these two disorders has never been reported.

摘要

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