Clinical utility gene card for: Central core disease

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.179. Epub 2011 Oct 12.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Testing / methods
  • Humans
  • Mutation
  • Myopathy, Central Core / diagnosis
  • Myopathy, Central Core / genetics*
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Sensitivity and Specificity

Substances

  • Ryanodine Receptor Calcium Release Channel