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Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.
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.
PMID: 6167680 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle.
Sabina RL, Swain JL, Olanow CW, Bradley WG, Fishbein WN, DiMauro S, Holmes EW.
J Clin Invest. 1984 Mar; 73(3):720-30.
[J Clin Invest. 1984]
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Molecular basis of AMP deaminase deficiency in skeletal muscle.
Morisaki T, Gross M, Morisaki H, Pongratz D, Zöllner N, Holmes EW.
Proc Natl Acad Sci U S A. 1992 Jul 15; 89(14):6457-61.
[Proc Natl Acad Sci U S A. 1992]