Descriptors Found: 1
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Descriptor English:   Myasthenic Syndromes, Congenital 
Descriptor Spanish:   Síndromes Miasténicos Congénitos 
Descriptor Portuguese:   Síndromes Miastênicas Congênitas 
Synonyms English:   Congenital Myasthenia
Congenital Myasthenia Gravis
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Presynaptic
Congenital Slow-Channel Myasthenic Syndromes
Myasthenia Gravis, Congenital
Myasthenic Syndrome, Congenital, Slow-Channel
Postsynaptic Congenital Myasthenic Syndromes
Presynaptic Congenital Myasthenic Syndromes
Slow-Channel Congenital Myasthenic Syndromes
Congenital Slow Channel Myasthenic Syndromes
Gravi, Congenital Myasthenia
Myasthenic Syndrome, Congenital
Slow Channel Congenital Myasthenic Syndromes
Syndrome, Congenital Myasthenic
Syndromes, Congenital Myasthenic
Myasthenic Syndromes, Congenital, Slow Channel  
Tree Number:   C10.668.758.800
Definition English:   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) 
Indexing Annotation English:   do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers
See Related English:   Myasthenia Gravis
History Note English:   2000 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   34336 
Unique Identifier:   D020294 

Occurrence in VHL: