Current understanding of congenital myasthenic syndromes

Research output: Contribution to journalReview article

135 Scopus citations

Abstract

Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of molecular targets at the motor endplate. Clinical, electrophysiologic and morphologic studies paved the way for detecting CMS-related mutations in proteins such as the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, MuSK and Nav1.4. Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems contributed crucially to defining the molecular consequences of the observed mutations and resulted in improved therapy of different CMSs. Recent crystallography studies of choline acetyltransferase and homology structural models of the acetylcholine receptor are providing further clues to how point mutations alter protein function.

Original languageEnglish (US)
Pages (from-to)308-321
Number of pages14
JournalCurrent Opinion in Pharmacology
Volume5
Issue number3 SPEC. ISS.
DOIs
StatePublished - Jun 2005

ASJC Scopus subject areas

  • Pharmacology
  • Drug Discovery

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