- Concept UI
- M0328231
- Scope Note
- 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)
- Terms
-
Myasthenic Syndromes, Congenital
Preferred Term
Term UI
T358231
Date10/12/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Congenital Myasthenia
Term UI
T841188
Date04/18/2013
LexicalTag
NON
ThesaurusID
-
Congenital Myasthenia Gravis
Term UI
T372544
Date10/12/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Congenital Myasthenic Syndrome
Term UI
T841187
Date04/18/2013
LexicalTag
NON
ThesaurusID
-
Congenital Myasthenic Syndromes
Term UI
T372545
Date10/12/1999
LexicalTag
NON
ThesaurusID
-
Myasthenia Gravis, Congenital
Term UI
T372546
Date10/12/1999
LexicalTag
NON
ThesaurusID
NLM (2000)