Myasthenic Syndromes, Congenital

Research output: Chapter in Book/Report/Conference proceedingChapter


Congenital myasthenic syndromes (CMSs) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiological, and morphological studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region of the motor endplate. The disease proteins identified to date include choline acetyltransferase, the ColQ component of acetylcholinesterase, β2-laminin, agrin, each subunit of the acetylcholine receptor, rapsyn, muscle specific kinase, and Nav1.4, downstream of tyrosine kinase 7, and glutamine-fructose-6-phosphate transaminase 1. Analysis of electrophysiological and biochemical properties of mutant proteins expressed in heterologous systems contributed crucially to defining the molecular consequences of the observed mutations and resulted in improved therapy of most CMSs.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Number of pages6
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
StatePublished - Jan 1 2014


  • Acetylcholine receptor (AChR)
  • Agrin
  • Choline acetyltransferase
  • ColQ
  • Congenital myasthenic syndrome
  • Dok-7
  • Escobar syndrome
  • GFPT1
  • MuSK
  • Neuromuscular junction
  • Rapsyn
  • β2-Laminin

ASJC Scopus subject areas

  • Medicine(all)


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