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)
Year introduced: 2000
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Subheadings:
Tree Number(s): C10.668.758.800, C16.320.590
MeSH Unique ID: D020294
Entry Terms:
- Myasthenic Syndrome, Congenital
- Syndrome, Congenital Myasthenic
- Syndromes, Congenital Myasthenic
- Congenital Myasthenia
- Congenital Myasthenias
- Myasthenia, Congenital
- Myasthenias, Congenital
- Congenital Myasthenia Gravis
- Gravi, Congenital Myasthenia
- Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndromes
- Myasthenia Gravis, Congenital
- Myasthenic Syndromes, Congenital, Slow Channel
- Slow-Channel Congenital Myasthenic Syndrome
- Slow Channel Congenital Myasthenic Syndrome
- Congenital Slow-Channel Myasthenic Syndrome
- Congenital Slow Channel Myasthenic Syndrome
- Congenital Slow-Channel Myasthenic Syndromes
- Congenital Slow Channel Myasthenic Syndromes
- Myasthenic Syndrome, Congenital, Slow-Channel
- Slow-Channel Congenital Myasthenic Syndromes
- Slow Channel Congenital Myasthenic Syndromes
- Congenital Myasthenic Syndromes, Postsynaptic
- Postsynaptic Congenital Myasthenic Syndrome
- Postsynaptic Congenital Myasthenic Syndromes
- Congenital Myasthenic Syndromes, Presynaptic
- Presynaptic Congenital Myasthenic Syndrome
- Presynaptic Congenital Myasthenic Syndromes
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