Mechanistic diversity underlying fast channel congenital myasthenic syndromes

Steven M. Sine, Hai Long Wang, Kinji Ohno, Xin Ming Shen, Won Yong Lee, Andrew G. Engel

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

A host of missense mutations in muscle nicotinic receptor subunits have been identified as the cause of congenital myasthenic syndromes (CMS). Two classes of CMS phenotypes have been identified: slow channel myasthenic syndromes (SCCMSs) and fast channel myasthenic syndromes (FCCMSs). Although both have similar phenotypic consequences, they are physiologic opposites. Expression of the FCCMS phenotype requires the missense mutation to be accompanied by a second mutation, either a null or a missense mutation, in the second allele encoding the same receptor subunit. This seemingly rare scenario has arisen with surprisingly high incidence over the past few years, and analyses of the syndromes have revealed a diverse array of mechanisms underlying the pathology. This review focuses on new mechanisms underlying the FCCMS.

Original languageEnglish (US)
Pages (from-to)128-137
Number of pages10
JournalAnnals of the New York Academy of Sciences
Volume998
DOIs
StatePublished - Jan 1 2003

Keywords

  • Congenital myasthenic syndromes
  • Fast channel myasthenic syndromes
  • Slow channel myasthenic syndromes
  • Transmembrane domain

ASJC Scopus subject areas

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

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