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  • Title: Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.
    Author: Mercelis R, Martin JJ, Dehaene I, de Barsy T, Van den Berghe G.
    Journal: J Neurol; 1981; 225(3):157-66. PubMed ID: 6167680.
    Abstract:
    Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase deficiency. Whereas AMP-deaminase has been shown to play an essential role in the regulation of adenine nucleotide metabolism in the liver, its physiological function in muscle remains uncertain.
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