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[Progressive infantile spinal muscular atrophy. Report of 12 cases].

作者信息

Fontana M H, Pörtner M R, Salim P A, Bobek P R, Da Roza P R

机构信息

Hospital da Criança Santo Antonio, Porto Alegre.

出版信息

Arq Neuropsiquiatr. 1990 Mar;48(1):26-31. doi: 10.1590/s0004-282x1990000100005.

DOI:10.1590/s0004-282x1990000100005
PMID:2378573
Abstract

Twelve children with progressive spinal muscular atrophy were seen at Santo Antonio Children Hospital, Porto Alegre. Diagnosis was based on neurological evaluation, serum enzymes, electroneuromyography and muscle biopsy. Several aspects are discussed by the authors, especially those concerning the presentation mode of the illness and the laboratory investigation. Our results are reviewed under the light of the current literature.

摘要

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