Congenital myasthenic syndromes

Research output: Chapter in Book/Report/Conference proceedingChapter


Congenital myasthenic syndromes (CMSs) are heterogeneous disorders. 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, and in the postsynaptic region of the motor endplate (EP). The disease proteins identified to date reside in the nerve terminal, the synaptic space, the postsynaptic region or occur in proteins subserving EP development and maintenance, or in proteins that subserve protein glycosylation. Myasthenic syndromes can also occur in combination with centronuclear myopathies and defects in plectin. Analysis of the properties of the expressed mutants has contributed to finding improved therapy for most CMS. Despite these advances, the molecular basis of some phenotypically characterized CMS awaits discovery.

Original languageEnglish (US)
Title of host publicationRosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationVolume 2
Number of pages20
ISBN (Electronic)9780128138663
StatePublished - Jan 1 2020


  • Acetylcholine receptor
  • Agrin
  • ALG14
  • ALG2
  • Choline acetyltransferase
  • ColQ
  • Congenital myasthenic syndromes
  • DAPGT1
  • Dok-7
  • Fetal akinesia syndrome
  • GFPT1
  • LAMA5
  • LRP4
  • Mitochondrial citrate carrier
  • Munc 13-1
  • MuSK
  • Myosin 9a
  • Neuromuscular junction
  • Plectin
  • Rapsyn
  • RPH3
  • Synaptobrevin-1
  • β2-laminin

ASJC Scopus subject areas

  • Medicine(all)


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