Congenital myasthenic syndromes

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations


Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission. This chapter discusses the clinical and electrophysiological manifestations of these relatively rare disorders as well as their pathophysiology, genetics, and management.

Original languageEnglish (US)
Title of host publicationNeuromuscular Disorders in Clinical Practice
PublisherSpringer New York
Number of pages17
ISBN (Electronic)9781461465676
ISBN (Print)1461465664, 9781461465669
StatePublished - Nov 1 2014


  • Acetylcholine Receptor
  • Acetylcholinesterase
  • Congenital Myasthenic Syndromes
  • Dok-7
  • Expression Studies
  • Glutamine-fructose-6-phosphate transaminase deficiency (GFPT1)
  • Mutation Analysis
  • Neuromuscular Transmission
  • Rapsyn

ASJC Scopus subject areas

  • Medicine(all)

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