Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release. II. High-conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel-open time.
Engel
A G
AG
Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905.
Walls
T J
TJ
Nagel
A
A
Uchitel
O
O
D000109:Acetylcholine / Q000378:metabolism; D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015640:Ion Channel Gating; D009132:Muscles / Q000503:physiopathology; D009157:Myasthenia Gravis / Q000151:congenital* / Q000503:physiopathology; D011950:Receptors, Cholinergic / Q000235:genetics* / Q000502:physiology; D013572:Synaptic Vesicles / Q000502:physiology* / Q000648:ultrastructure; D013577:Syndrome
D011950:Receptors, Cholinergic; D000109:Acetylcholine