Myasthenic Syndrome,Congenital

《英文msh詞典》Myasthenic Syndrome,Congenital
[入口詞] Myasthenic Syndrome,Congenital
[主題詞] Myasthenic Syndromes,Congenital
[英文釋義] A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic,synaptic,and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS,NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)