Myasthenic Syndrome, Congenital, 4a, Slow-Channel (CMS4A)

Myasthenic Syndrome, Congenital, 4a, Slow-Channel, also known as congenital myasthenic syndrome 4a, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and myasthenic syndrome, congenital, 1b, fast-channel. An important gene associated with Myasthenic Syndrome, Congenital, 4a, Slow-Channel is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit). Affiliated tissues include skeletal muscle, and related phenotypes are emg: decremental response of compound muscle action potential to repetitive nerve stimulation and ptosis