Current Neurology and Neuroscience Reports

, Volume 12, Issue 1, pp 92–101

Congenital Myasthenic Syndromes in 2012

Nerve and Muscle (M Hirano and LH Weimer, Section Editors)

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

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of NeurologyMayo ClinicRochesterUSA

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