Congenital Myasthenic Syndromes

Chapter

Abstract

Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission. This chapter discusses the clinical and electrophysiological manifestations of these relatively rare disorders as well as their pathophysiology, genetics, and management.

Keywords

Neuromuscular Transmission Congenital Myasthenic Syndromes Acetylcholine Receptor Acetylcholinesterase Rapsyn Dok-7 Glutamine-fructose-6-phosphate transaminase deficiency (GFPT1) Mutation Analysis Expression Studies 

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© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of NeurologyMayo Clinic College of Medicine, Mayo ClinicRochesterUSA

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