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  • Title: Myoadenylate deaminase deficiency.
    Author: Goebel HH, Bardosi A, Conrad B, Kuhlendahl HD, DiMauro S, Rumpf KW.
    Journal: Klin Wochenschr; 1986 Apr 01; 64(7):342-7. PubMed ID: 3713108.
    Abstract:
    This report concerns two unrelated males; one had sarcoidosis, sarcoid myopathy and muscle weakness, and the other had exercise-induced weakness and myalgia. Both patients had a lack of ammonia rise in their serum after an ischemic work test, minimal histochemical activity of myoadenylate deaminase in repeated muscle biopsies, and less than 5% of normal biochemical activity of myoadenylate deaminase in their skeletal muscles. These three criteria establish primary myoadenylate deaminase deficiency as a separate primary metabolic muscle disease which merits differential diagnostic consideration when patients complain of muscle weakness and cramps.
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