Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy.
To characterize clinical, structural, electrophysiologic, and genetic features of a CMS and to search for optimal therapy.
JAMA Neurol. Published online June 08, 2015. doi:10.1001/jamaneurol.2015.0853