Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

Can J Neurol Sci. 2017 Jan;44(1):125-127. doi: 10.1017/cjn.2016.322. Epub 2016 Oct 17.
No abstract available

Keywords: CHRNA1; Congenital myasthenic syndrome; Neuromuscular junction defect; Postsynaptic defect.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Electric Stimulation
  • Genetic Testing
  • Humans
  • Male
  • Mutation / genetics*
  • Myasthenic Syndromes, Congenital / genetics*
  • Myasthenic Syndromes, Congenital / physiopathology
  • Neural Conduction / genetics
  • Receptors, Nicotinic / genetics*
  • Ulnar Nerve / physiopathology

Substances

  • CHRNA1 protein, human
  • Receptors, Nicotinic