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  • Title: Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.
    Author: Carrier H, Maire I, Vial C, Rambaud G, Flocard F, Flechaire A.
    Journal: Acta Neuropathol; 1990; 81(1):84-8. PubMed ID: 2128163.
    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.
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