Current Neurology and Neuroscience Reports

, Volume 12, Issue 1, pp 92–101

Congenital Myasthenic Syndromes in 2012

Authors

    • Department of NeurologyMayo Clinic
Nerve and Muscle (M Hirano and LH Weimer, Section Editors)

DOI: 10.1007/s11910-011-0234-7

Cite this article as:
Engel, A.G. Curr Neurol Neurosci Rep (2012) 12: 92. doi:10.1007/s11910-011-0234-7

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 Nav1.4, 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.

Keywords

Congenital myasthenic syndromeNeuromuscular junctionEMGAcetylcholine receptor (AChR)RapsynColQCholine acetyltransferaseAgrinMuSKβ2-lamininDok-7GFPT1Escobar syndrome

Copyright information

© Springer Science+Business Media, LLC 2011