Recently recognized congenital myasthenic syndromes: (a) end-plate acetylcholine (ACh) esterase deficiency (b) putative abnormality of the ACh induced ion channel (c) putative defect of ACh resynthesis or mobilization - clinical features, ultrastructure and cytochemistry.
D000109:Acetylcholine / Q000378:metabolism; D000110:Acetylcholinesterase / Q000172:deficiency; D000328:Adult; D002648:Child; D006801:Humans; D007473:Ion Channels / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009045:Motor Endplate / Q000201:enzymology / Q000378:metabolism; D009157:Myasthenia Gravis / Q000151:congenital* / Q000175:diagnosis / Q000378:metabolism; D013577:Syndrome
D007473:Ion Channels; D000110:Acetylcholinesterase; D000109:Acetylcholine