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