Congenital myasthenic syndromes (CMS) are heterogeneous 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, and in the postsynaptic region of the motor endplate. The disease proteins
identified to date include choline acetyltransferase (ChAT), the endplate species of …