Further observations in congenital myasthenic syndromes

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

30 Citations (Scopus)

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, Na v1.4, 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 publicationAnnals of the New York Academy of Sciences
Pages104-113
Number of pages10
Volume1132
DOIs
StatePublished - Jun 2008

Publication series

NameAnnals of the New York Academy of Sciences
Volume1132
ISSN (Print)00778923
ISSN (Electronic)17496632

Fingerprint

Congenital Myasthenic Syndromes
Genes
Mutation
Choline O-Acetyltransferase
Genetic Association Studies
Cholinergic Receptors
Acetylcholinesterase

Keywords

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

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Engel, A. G., Shen, X. M., Selcen, D., & Sine, S. M. (2008). Further observations in congenital myasthenic syndromes. In Annals of the New York Academy of Sciences (Vol. 1132, pp. 104-113). (Annals of the New York Academy of Sciences; Vol. 1132). https://doi.org/10.1196/annals.1405.039

Further observations in congenital myasthenic syndromes. / Engel, Andrew G; Shen, Xin Ming; Selcen, Duygu; Sine, Steven M.

Annals of the New York Academy of Sciences. Vol. 1132 2008. p. 104-113 (Annals of the New York Academy of Sciences; Vol. 1132).

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

Engel, AG, Shen, XM, Selcen, D & Sine, SM 2008, Further observations in congenital myasthenic syndromes. in Annals of the New York Academy of Sciences. vol. 1132, Annals of the New York Academy of Sciences, vol. 1132, pp. 104-113. https://doi.org/10.1196/annals.1405.039
Engel AG, Shen XM, Selcen D, Sine SM. Further observations in congenital myasthenic syndromes. In Annals of the New York Academy of Sciences. Vol. 1132. 2008. p. 104-113. (Annals of the New York Academy of Sciences). https://doi.org/10.1196/annals.1405.039
Engel, Andrew G ; Shen, Xin Ming ; Selcen, Duygu ; Sine, Steven M. / Further observations in congenital myasthenic syndromes. Annals of the New York Academy of Sciences. Vol. 1132 2008. pp. 104-113 (Annals of the New York Academy of Sciences).
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