Myasthenic Syndromes, Congenital

Overview

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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Quick facts about Myasthenic Syndromes, Congenital

Topic type

Condition

Category

Neurology

MeSH classification

C10.668.758.800|C16.320.590

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