| Clinical spectrum of McArdle disease: three cases with unusual expression. | |
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MedLine Citation:
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PMID: 8467839 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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L Chiadò-Piat; T Mongini; C Doriguzzi; M Maniscalco; L Palmucci |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: European neurology Volume: 33 ISSN: 0014-3022 ISO Abbreviation: Eur. Neurol. Publication Date: 1993 |
Date Detail:
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Created Date: 1993-05-07 Completed Date: 1993-05-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0150760 Medline TA: Eur Neurol Country: SWITZERLAND |
Other Details:
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Languages: eng Pagination: 208-11 Citation Subset: IM |
Affiliation:
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Paolo Peirolo Center for Neuromuscular Diseases, 2nd Division of Neurology, University of Turin, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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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