Congenital myasthenic syndromes in 2012

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region of the motor endplate. The disease proteins identified to date include the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, and Na v1.4, muscle-specific kinase, agrin, β2-laminin, downstream of tyrosine kinase 7, and glutamine-fructose-6- phosphate transaminase 1. Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems have contributed crucially to defining the molecular consequences of the observed mutations and have resulted in improved therapy of most CMS.

Original languageEnglish (US)
Pages (from-to)92-101
Number of pages10
JournalCurrent Neurology and Neuroscience Reports
Volume12
Issue number1
DOIs
StatePublished - Feb 2012

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Congenital Myasthenic Syndromes
Agrin
Motor Endplate
Mutation
Choline O-Acetyltransferase
Presynaptic Terminals
Cholinergic Receptors
Laminin
Mutant Proteins
Acetylcholinesterase
Transaminases
Glutamine
Basement Membrane
Protein-Tyrosine Kinases
Proteins
Phosphotransferases
Safety
Muscles
Therapeutics

Keywords

  • β2-laminin
  • Acetylcholine receptor (AChR)
  • Agrin
  • Choline acetyltransferase
  • ColQ
  • Congenital myasthenic syndrome
  • Dok-7
  • EMG
  • Escobar syndrome
  • GFPT1
  • MuSK
  • Neuromuscular junction
  • Rapsyn

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Congenital myasthenic syndromes in 2012. / Engel, Andrew G.

In: Current Neurology and Neuroscience Reports, Vol. 12, No. 1, 02.2012, p. 92-101.

Research output: Contribution to journalArticle

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