Other terms
Congenital Myasthenic Syndrome,Myasthenic Syndrome, Congenital,Syndrome, Congenital Myasthenic,Syndromes, Congenital Myasthenic,Congenital Myasthenic Syndromes,Myasthenia Gravis, Congenital,Congenital Myasthenia Gravis,Gravi, Congenital Myasthenia,Congenital Myasthenic Syndromes, Presynaptic,Presynaptic Congenital Myasthenic Syndromes,Myasthenic Syndromes, Congenital, Slow Channel,Slow-Channel Congenital Myasthenic Syndromes,Slow Channel Congenital Myasthenic Syndromes,Myasthenic Syndrome, Congenital, Slow-Channel,Congenital Slow-Channel Myasthenic Syndromes,Congenital Slow Channel Myasthenic Syndromes,Congenital Myasthenic Syndromes, Postsynaptic,Postsynaptic Congenital Myasthenic Syndromes
Description
Myasthenic Syndromes, Congenital: 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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