Definitions of myasthenic syndromes, congenital

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Definition of 'myasthenic syndromes, congenital'

U.S. National Library of Medicine

1. 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)

'myasthenic syndromes, congenital' - Nearby Entries
muzolimine myasthenia gravis, autoimmune, experimental myasthenia gravis, neonatal myasthenic syndromes, congenital mycetoma mycetozoa mycobacillin

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