Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of
molecular targets at the motor endplate. Clinical, electrophysiologic and morphologic
studies paved the way for detecting CMS-related mutations in proteins such as the
acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, MuSK and
Nav1. 4. Analysis of electrophysiologic and biochemical properties of mutant proteins
expressed in heterologous systems contributed crucially to defining the molecular …