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McArdle's Syndrome with Previously Unreported Electrocardiographic and Serum Enzyme Abnormalities

Ann Intern Med. 1965;62(2):328-335. doi:10.7326/0003-4819-62-2-328
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In 1951, a metabolic myopathy due to deficient glycogen breakdown in skeletal muscle was described by McArdle (1). The responsible enzymatic deficiency in similar cases was not demonstrated until 1959. Pearson and associates (2-4) and Schmid and associates (5-7) demonstrated an absence of muscle phosphorylase in their cases. Since then several cases have been reported by various authors (8-12).

This inborn error leads to insufficient glycogenosis and relative lack of formation of products of anaerobic metabolism. The serum lactic acid does not increase, and it may even decrease during exercise under these circumstances. This response to exercise is a simple


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