Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease

Medicin og biovidenskab

• Muscle Form Glycogen Phosphorylase 100%
• Glycogen Storage Disease Type V 87%
• Phenotype 32%
• Mutation 30%
• Exercise 11%
• Cardiac Output 11%
• Muscles 10%
• Lactic Acid 10%
• Alleles 8%
• Glycogenolysis 8%
• Ergometry 8%
• Healthy Volunteers 7%
• Ammonia 6%
• Genetic Association Studies 6%
• Workload 6%
• Exercise Test 5%
• Forearm 5%
• Introns 5%
• Genotype 4%
• Oxygen 4%
• Genes 2%