Congenital Myasthenic Syndrome With Episodic Apnea in Patients Homozygous for a CHAT Missense Mutation

Abstract

The high degree of conservation in different species strongly suggests that I336T is a functionally important amino acid residue. The absence of I336T from a large control sample further supports the pathogenic role of I336T in CMS-EA. This is the second report of CHAT mutations causing presynaptic CMS.