Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome

J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):450-1. doi: 10.1136/jnnp.2008.148189.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Electromyography
  • Family
  • Female
  • Humans
  • Male
  • Motor Neurons / physiology
  • Muscle, Skeletal / pathology*
  • Mutation / physiology*
  • Myasthenic Syndromes, Congenital / genetics*
  • Myasthenic Syndromes, Congenital / pathology*
  • Neural Conduction / physiology
  • Pedigree
  • Receptors, Cholinergic / genetics*
  • Receptors, Nicotinic / genetics*

Substances

  • CHRNE protein, human
  • Receptors, Cholinergic
  • Receptors, Nicotinic