126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands

Neuromuscul Disord. 2005 Jul;15(7):498-512. doi: 10.1016/j.nmd.2005.05.001.
No abstract available

Publication types

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

MeSH terms

  • Choline O-Acetyltransferase / genetics
  • Genotype
  • Humans
  • Molecular Biology / methods
  • Muscle Proteins / genetics
  • Mutation*
  • Myasthenic Syndromes, Congenital / classification
  • Myasthenic Syndromes, Congenital / epidemiology
  • Myasthenic Syndromes, Congenital / genetics*
  • Myasthenic Syndromes, Congenital / therapy
  • Netherlands
  • Neuromuscular Junction / physiology
  • Phenotype
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptors, Cholinergic / genetics
  • Sodium Channels / genetics

Substances

  • Muscle Proteins
  • Receptors, Cholinergic
  • Sodium Channels
  • peripheral membrane protein 43K
  • Choline O-Acetyltransferase
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases