The unfolding landscape of the congenital myasthenic syndromes

Research output: Contribution to journalReview article

6 Scopus citations

Abstract

Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next-generation sequencing methods, the discovery of novel CMS targets and phenotypes has proceeded at an accelerated rate. Here, we review the current classification of CMS and describe our findings in five of these targets identified and investigated in our laboratory in the past 5 years. Defects in LRP4 hinder synaptic development and maintenance; the defects in PREPL are predicted to diminish filling of the synaptic vesicle with acetylcholine; and defects in SNAP25, Munc13-1, and synaptotbrevin-1 impede synaptic vesicle exocytosis.

Original languageEnglish (US)
Pages (from-to)25-34
Number of pages10
JournalAnnals of the New York Academy of Sciences
Volume1413
Issue number1
DOIs
StatePublished - 2018

Keywords

  • LRP4
  • Munc13-1
  • PREPL
  • SNAP25B
  • congenital myasthenic syndromes
  • synaptobrevin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

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