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Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy

Journal of Neurology, ISSN: 0340-5354, Vol: 225, Issue: 3, Page: 157-166
1981
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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. © 1981 Springer-Verlag.

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