Congenital Myasthenic Syndromes

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations


Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, morphologic, and molecular genetic studies have paved the way for defining phenotypic features of the different syndromes, identifying disease genes and proteins, and recommending appropriate therapy. Disease proteins reside in the nerve terminal, the synaptic basal lamina, or the postsynaptic region of the neuromuscular junction, or are distributed in many tissues including the junction. Those identified to date include choline acetyltransferase, the endplate species of acetylcholinesterase β2-laminin, each subunit of the acetylcholine receptor, rapsyn, plectin, Nav1.4, MuSK, agrin, Dok-7, GFPT1, DPAGT1, ALG2, and ALG14. Analyses of properties of expressed mutant proteins contribute to finding improved therapy for most CMS. Despite these advances, the molecular basis of some phenotypically characterized CMS remains elusive. Moreover, other types of CMS and disease genes likely exist and await discovery.

Original languageEnglish (US)
Title of host publicationNeuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach
PublisherElsevier Inc.
Number of pages26
ISBN (Print)9780124171275, 9780124170445
StatePublished - Dec 3 2014


  • Acetylcholine receptor
  • Agrin
  • ALG14
  • ALG2
  • Choline acetyltransferase
  • ColQ
  • Congenital myasthenic syndrome
  • DAPGT1
  • Dok-7
  • EMG
  • Fetal akinesia syndrome
  • GFPT1
  • MuSK
  • Neuromuscular junction
  • Plectin
  • Rapsyn
  • β2-laminin

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)


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