Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase

Neurology. 1998 Oct;51(4):1228-9. doi: 10.1212/wnl.51.4.1228.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Creatine Kinase / blood*
  • Female
  • Glycogen Storage Disease Type V / genetics*
  • Glycogen Storage Disease Type V / metabolism*
  • Humans
  • Muscle, Skeletal / enzymology
  • Mutation
  • Phosphorylases / blood*
  • Phosphorylases / genetics*
  • Polymorphism, Restriction Fragment Length

Substances

  • Phosphorylases
  • Creatine Kinase