Clinical Spectrum of McArdle Disease: Three Cases with Unusual Expression
作者:
L. Chiadò-Piat,
T. Mongini,
C. Doriguzzi,
M. Maniscalco,
L. Palmucci,
期刊:
European Neurology
(Karger Available online 1993)
卷期:
Volume 33,
issue 3
页码: 208-211
ISSN:0014-3022
年代: 1993
DOI:10.1159/000116938
出版商: S. Karger AG
关键词: Glycogen storage;Muscle biopsy;Myopathy;Myophosphorylase deficiency;Type V glycogenosis
数据来源: Karger
摘要:
Three cases of myophosphorylase deficiency with unusual clinical expression are presented. The 1 st had clinical characteristics suggesting a mild congenital myopathy, and the patient never experienced cramps or myalgias. The 2nd had a slowly progressive myopathy without cramps or myoglobinuria which was detected by chance. The 3rd presented with myoglobinuria and acute renal failure, unrelated to a triggering effort, and with permanent weakness and wasting. In all cases, muscle biopsy demonstrated a vacuolar myopathy with free glycogen increase and absence of myophosphorylase activity, confirmed by biochemical assays. The cases confirm the wide clinical spectrum of McArdle disease.
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