Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene

J Neurol. 2004 Jan;251(1):102-4. doi: 10.1007/s00415-004-0220-y.
No abstract available

Publication types

  • Comparative Study
  • Letter

MeSH terms

  • Arginine / genetics
  • Creatine Kinase / metabolism
  • Cysteine / genetics
  • DNA Mutational Analysis
  • Electromyography
  • Humans
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology
  • Mutation*
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Succinate Dehydrogenase / metabolism

Substances

  • Ryanodine Receptor Calcium Release Channel
  • Arginine
  • Succinate Dehydrogenase
  • Creatine Kinase
  • Cysteine