The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

Abstract excerpt

Numerous biomedical advances have been made since Carl and Gerty Cori discovered the enzyme phosphorylase in the 1940s and the Scottish physician Brian McArdle reported in 1951 a previously 'undescribed disorder characterized by a gross failure of the breakdown in muscle of glycogen'. Today we know that this disorder, commonly known as 'McArdle disease', is caused by inherited deficiency of the muscle isoform of...

Topics

• Animals
• DNA Mutational Analysis
• Disease Models, Animal
• Exercise Tolerance
• Genetic Predisposition to Disease
• Genetic Testing
• Glycogen Phosphorylase, Muscle Form
• Glycogen Storage Disease Type V
• Humans
• Mice, Transgenic
• Muscle, Skeletal
• Mutation
• Phenotype
• Predictive Value of Tests
• Prognosis