Abstract
The symptoms of a myopathy permanently affecting limb girdle muscles are reported in a 31-year-old woman who has been presenting an exertional muscle pain syndrome with myoglobinuria for 20 years. Investigations revealed a slightly decreased utilization of glycogen in muscle, while its storage affected only rare type 2 fibers. Active phosphorylase was undetectable and phosphorylase b kinase activity was clearly decreased in muscle cells, but normal in erythocytes, lymphocytes and cultured fibroblasts.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Atrophy
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Female
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Glycogen / analysis
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Glycogen Storage Disease / enzymology
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Glycogen Storage Disease / pathology*
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Glycogen Storage Disease / physiopathology
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Glycolysis
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Humans
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Microscopy, Electron
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Muscles / metabolism
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Muscles / pathology*
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Muscles / ultrastructure
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Muscular Diseases / etiology
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Muscular Diseases / pathology*
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Muscular Diseases / physiopathology
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Pain / etiology
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Pain / metabolism
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Pain / pathology*
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Phosphorylase Kinase / deficiency*
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Phosphorylase Kinase / metabolism
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Phosphorylase b / metabolism
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Physical Exertion
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Syndrome
Substances
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Glycogen
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Phosphorylase b
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Phosphorylase Kinase