Congenital myasthenic syndromes

A diverse array of molecular targets

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

The neuromuscular junction (NMJ) has served as a prototype for understanding mechanisms underlying synaptic transmission over the past 50 years. More recently, analysis of congenital myasthenic syndromes (CMS) revealed a diverse array of molecular targets and delineated their contributions to synaptic function. Clinical, electrophysiologic and morphologic studies have paved the way for detecting CMS-related mutations in proteins such as choline acetyltransferase acetylcholinesterase, the acetylcholine receptor, rapsyn, and the voltage-gated sodium channel of the Nav1.4 type. Further studies of the mutant proteins have allowed us to correlate the effects of the mutations with predicted alterations in protein structure. In this review, we focus on the symptomatology of the CMS, consider the factors that impair neuromuscular transmission, survey the mutations that have been uncovered in the different synaptic proteins, and consider the functional implications of the identified mutations.

Original languageEnglish (US)
Pages (from-to)1017-1037
Number of pages21
JournalJournal of Neurocytology
Volume32
Issue number5-8
DOIs
StatePublished - Jun 2003

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Congenital Myasthenic Syndromes
Mutation
NAV1.4 Voltage-Gated Sodium Channel
Proteins
Choline O-Acetyltransferase
Neuromuscular Junction
Cholinergic Receptors
Mutant Proteins
Acetylcholinesterase
Synaptic Transmission

ASJC Scopus subject areas

  • Cell Biology
  • Anatomy
  • Histology
  • Neuroscience(all)

Cite this

Congenital myasthenic syndromes : A diverse array of molecular targets. / Engel, Andrew G; Ohno, Kinji; Sine, Steven M.

In: Journal of Neurocytology, Vol. 32, No. 5-8, 06.2003, p. 1017-1037.

Research output: Contribution to journalArticle

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