Document Detail


Clinical spectrum of McArdle disease: three cases with unusual expression.
MedLine Citation:
PMID:  8467839     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three cases of myophosphorylase deficiency with unusual clinical expression are presented. The 1st 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.
Authors:
L Chiadò-Piat; T Mongini; C Doriguzzi; M Maniscalco; L Palmucci
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European neurology     Volume:  33     ISSN:  0014-3022     ISO Abbreviation:  Eur. Neurol.     Publication Date:  1993  
Date Detail:
Created Date:  1993-05-07     Completed Date:  1993-05-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0150760     Medline TA:  Eur Neurol     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  208-11     Citation Subset:  IM    
Affiliation:
Paolo Peirolo Center for Neuromuscular Diseases, 2nd Division of Neurology, University of Turin, Italy.
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MeSH Terms
Descriptor/Qualifier:
Biopsy
Child
Exercise / physiology
Glycogen Storage Disease Type V / diagnosis,  genetics*,  pathology
Humans
Male
Microscopy, Electron
Muscle Proteins / metabolism
Muscles / pathology
Neurologic Examination
Phosphorylases / metabolism
Vacuoles / ultrastructure
Chemical
Reg. No./Substance:
0/Muscle Proteins; EC 2.4.1.-/Phosphorylases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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