specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly the same as glycogen...

Myophosphorylase or glycogen phosphorylase, muscle associated (PYGM) is the muscle isoform of the enzyme glycogen phosphorylase and is encoded by the PYGM...

diphosphate (ADP), as well as allosterically activating enzymes such as myophosphorylase-b. AMP is also a component in the synthesis of RNA. AMP is present...

different symptoms) Myophosphorylase-a activity impaired: Autosomal dominant mutation on PYGM gene. AMP-independent myophosphorylase activity impaired,...

glucose-6-phosphate. Myophosphorylase-a is active, unless allosterically inactivated by elevated glucose within the cell. In this way, myophosphorylase-a is the more...

will become discharged down to AMP. AMP will instantly up-regulate myophosphorylase, which will start liberating glucose from glycogen and make it available...

metabolic myopathies, is caused by mutations of the gene encoding myophosphorylase. Cytochrome b mutations can frequently cause isolated exercise intolerance...

myotubular Myopathy, X-linked, with excessive autophagy Myopathy Myophosphorylase deficiency Myopia Myopia, infantile severe Myopia, severe Myorhythmia...

the enzyme myophosphorylase (see Glycogen phosphorylase § Regulation), so the initial buildup of AMP triggers the enzyme myophosphorylase to release muscle...

phosphoglucomutase deficiency (GSD-XIV), deficiency of functioning myophosphorylase-a (autosomal dominant PYGM), phosphorylase-b kinase deficiency (GSD-IXd)...