Congenital myasthenic syndromes in 2012

Research output: Contribution to journalReview article

30 Scopus citations


Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic 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 the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, and Na v1.4, muscle-specific kinase, agrin, β2-laminin, downstream of tyrosine kinase 7, and glutamine-fructose-6- phosphate transaminase 1. Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems have contributed crucially to defining the molecular consequences of the observed mutations and have resulted in improved therapy of most CMS.

Original languageEnglish (US)
Pages (from-to)92-101
Number of pages10
JournalCurrent neurology and neuroscience reports
Issue number1
StatePublished - Feb 1 2012



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

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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