Myasthenic Syndrome, Congenital, 3a, Slow-Channel (CMS3A)

Myasthenic Syndrome, Congenital, 3a, Slow-Channel, also known as congenital myasthenic syndrome 3a, is related to oguchi disease and retinitis pigmentosa 2. An important gene associated with Myasthenic Syndrome, Congenital, 3a, Slow-Channel is CHRND (Cholinergic Receptor Nicotinic Delta Subunit), and among its related pathways/superpathways are Visual phototransduction and AP-1 transcription factor network. Related phenotypes are ptosis and dysphagia