Core-rod myopathy caused by mutations in the nebulin gene

Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron
  • Muscle Fibers, Skeletal / pathology*
  • Muscle Proteins / genetics*
  • Mutation*
  • Myopathies, Nemaline / genetics*
  • Myopathies, Nemaline / pathology

Substances

  • Muscle Proteins
  • nebulin