Myasthenic Syndromes, Congenital
Synonyms
Congenital Myasthenia
Congenital Myasthenia Gravis
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Presynaptic
Congenital Slow Channel Myasthenic Syndromes
Congenital Slow-Channel Myasthenic Syndromes
Gravi, Congenital Myasthenia
Myasthenia Gravis, Congenital
Myasthenic Syndrome, Congenital
Myasthenic Syndrome, Congenital, Slow-Channel
Myasthenic Syndromes, Congenital, Slow Channel
Postsynaptic Congenital Myasthenic Syndromes
Presynaptic Congenital Myasthenic Syndromes
Slow Channel Congenital Myasthenic Syndromes
Slow-Channel Congenital Myasthenic Syndromes
Syndrome, Congenital Myasthenic
Syndromes, 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)
See Also