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