Svirklys L G, O'Sullivan W J
Biochem Med Metab Biol. 1986 Dec;36(3):347-54. doi: 10.1016/0885-4505(86)90146-5.
Antisera to normal erythrocyte and skeletal muscle PGK, raised in rabbits, were shown to cross-react with extracts from normal tissues and with extracts from a subject with PGK deficiency. Radial immunodiffusion, using the antisera raised against normal human PGK, was used to determine the amount of cross-reacting PGK protein present in extracts of several tissues from an affected subject. For all tissues tested, activity was only a small percentage of the PGK protein concentration. In particular, evidence for normal levels of protein in erythrocytes and myocardium was obtained. The results indicate that the deficiency is due to a structural mutation of the enzyme.
