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Myasthenic Syndromes, Congenital

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Definition: 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)  do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers   
See Also Myasthenia Gravis 		Other names Syndromes, Congenital Myasthenic; Syndrome, Congenital Myasthenic; Slow Channel Congenital Myasthenic Syndromes; Myasthenic Syndrome, Congenital; Gravi, Congenital Myasthenia; Congenital Slow Channel Myasthenic Syndromes; Congenital Myasthenic Syndrome; Slow-Channel Congenital Myasthenic Syndromes; Presynaptic Congenital Myasthenic Syndromes; Postsynaptic Congenital Myasthenic Syndromes; Myasthenic Syndrome, Congenital, Slow-Channel; Myasthenia Gravis, Congenital; Congenital Slow-Channel Myasthenic Syndromes; Congenital Myasthenic Syndromes, Presynaptic; Congenital Myasthenic Syndromes, Postsynaptic; Congenital Myasthenic Syndromes; Congenital Myasthenia Gravis; Myasthenic Syndromes, Congenital, Slow Channel
 
SubstanceCAS Registry & nameCategoriesSource
Myasthenic syndrome, congenital, postsynaptic slow-channel  0   *Myasthenic Syndromes, Congenital.
Myasthenic syndrome, congenital, type id  0   *Myasthenic Syndromes, Congenital.
Congenital myasthenic syndrome ib  0   *Myasthenic Syndromes, Congenital.

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