| 单词 | Congenital Slow-Channel Myasthenic Syndromes |
| 释义 | Congenital Slow-Channel Myasthenic Syndromes《英文msh词典》Congenital Slow-Channel Myasthenic Syndromes [入口词] Congenital Slow-Channel Myasthenic Syndromes [主题词] Myasthenic Syndromes,Congenital [英文释义] 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) |
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