Further observations in congenital myasthenic syndromes

Research output: Chapter in Book/Report/Conference proceedingConference contribution

30 Scopus citations

Abstract

During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Nav1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.

Original languageEnglish (US)
Title of host publicationMyasthenia Gravis and Related Disorders 11th International Conference
PublisherBlackwell Publishing Inc.
Pages104-113
Number of pages10
ISBN (Print)9781573316873
DOIs
StatePublished - Jun 2008

Publication series

NameAnnals of the New York Academy of Sciences
Volume1132
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632

Keywords

  • Acetylcholine receptor
  • Acetylcholinesterase
  • Choline acetyltransferase
  • Congenital myasthenic syndromes
  • Dok-7

ASJC Scopus subject areas

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

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