Central core myopathy with autophagy

Muscle Nerve. 2017 Aug;56(2):E8-E9. doi: 10.1002/mus.25594. Epub 2017 Mar 21.
No abstract available

Keywords: RYR1; autophagy; central core myopathy; congenital myopathy; muscle histopathology.

Publication types

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

MeSH terms

  • Adult
  • Autophagy / physiology*
  • DNA Mutational Analysis
  • Humans
  • Male
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Mutation
  • Myopathy, Central Core / genetics
  • Myopathy, Central Core / metabolism*
  • Myopathy, Central Core / pathology
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Ryanodine Receptor Calcium Release Channel / metabolism

Substances

  • Ryanodine Receptor Calcium Release Channel