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Science 5 May 1978:
Vol. 200. no. 4341, pp. 545 - 548
DOI: 10.1126/science.644316
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Articles

Science, Vol 200, Issue 4341, 545-548
Copyright © 1978 by American Association for the Advancement of Science

articles

Myoadenylate deaminase deficiency: a new disease of muscle

WN Fishbein, VW Armbrustmacher, and JL Griffin

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.


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Review Article: Electromyography in Infants and Children.
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