New horizons for congenital myasthenic syndromes

Research output: Contribution to journalArticle

24 Scopus citations

Abstract

During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.

Original languageEnglish (US)
Pages (from-to)54-62
Number of pages9
JournalAnnals of the New York Academy of Sciences
Volume1275
Issue number1
DOIs
StatePublished - Dec 2012

Keywords

  • Acetylcholine receptor
  • Centronuclear myopathy
  • Choline acetyltransferase
  • Congenital myasthenic syndromes
  • DPAGT1
  • Fast-channel syndromes
  • GFPT1
  • Plectin

ASJC Scopus subject areas

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

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