Congenital myasthenic syndromes

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Abstract

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
Pages1111-1127
Number of pages17
Volume9781461465676
ISBN (Electronic)9781461465676
ISBN (Print)1461465664, 9781461465669
DOIs
StatePublished - Nov 1 2014

Keywords

  • 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)

Fingerprint Dive into the research topics of 'Congenital myasthenic syndromes'. Together they form a unique fingerprint.

Cite this