About The Medical Condition Myasthenic Syndromes, Congenital
Find the definition of the medical term Myasthenic Syndromes, Congenital. Myasthenic Syndromes, Congenital defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Myasthenic Syndromes, Congenital
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What's The Definition Of The Medical Condition 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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