Article
Muscle glycogenosis.
Journal of inherited metabolic disease - 1 Jan 1990
Moses S W
Abstract excerpt
This review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo-1,6-glucosidase and acid alpha-glucosidase. They are characterized by a wide spectrum of clinical manif...
Topics
- DNA
- Genetic Variation
- Glycogen Debranching Enzyme System
- Glycogen Storage Disease
- Humans
- Muscles
- Phosphorylase Kinase
- RNA, Messenger
- alpha-Glucosidases
