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