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Myoadenylate deaminase deficiency: a new disease of muscle.
Five cases of a new disease presented with muscular weakness or cramping after exercise; three of the cases also had an elevated serum creatine phosphokinase. Muscle biopsies were histologically normal but lacked adenylate deaminase by stain and solution assay, while the erythrocyte isozyme was normal. A clinical diagnostic test has been developed, and the human enzyme was separated by acrylamide-gel electrophoresis.
PMID: 644316 [PubMed - indexed for MEDLINE]
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Cited by 9 PubMed Central articles
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Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans.
Tarnopolsky MA, Parise G, Gibala MJ, Graham TE, Rush JW.
J Physiol. 2001 Jun 15; 533(Pt 3):881-9.
[J Physiol. 2001]
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Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.
Morisaki H, Morisaki T, Newby LK, Holmes EW.
J Clin Invest. 1993 May; 91(5):2275-80.
[J Clin Invest. 1993]
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Isolation and characterization of AMP deaminase from mammalian (rabbit) myocardium.
Thakkar JK, Janero DR, Yarwood C, Sharif H, Hreniuk D.
Biochem J. 1993 Mar 1; 290 ( Pt 2):335-41.
[Biochem J. 1993]
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