Fishbein W N, Armbrustmacher V W, Griffin J L
Science. 1978 May 5;200(4341):545-8. doi: 10.1126/science.644316.
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.
五例新疾病患者在运动后出现肌肉无力或痉挛；其中三例血清肌酸磷酸激酶也升高。肌肉活检组织学检查正常，但通过染色和溶液测定缺乏腺苷酸脱氨酶，而红细胞同工酶正常。已经开发出一种临床诊断测试方法，并且通过丙烯酰胺凝胶电泳分离出了人类酶。
