End-plate acetylcholinesterase deficiency associated with small nerve terminals and reduced acetylcholine release. A new syndrome.
D000109:Acetylcholine / Q000378:metabolism*; D000110:Acetylcholinesterase / Q000172:deficiency*; D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004558:Electric Stimulation; D004576:Electromyography; D005071:Evoked Potentials; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D009045:Motor Endplate / Q000201:enzymology* / Q000648:ultrastructure; D009046:Motor Neurons / Q000201:enzymology; D009157:Myasthenia Gravis / Q000201:enzymology; D009411:Nerve Endings / Q000201:enzymology*; D009468:Neuromuscular Diseases / Q000151:congenital / Q000201:enzymology* / Q000378:metabolism* / Q000473:pathology; D009469:Neuromuscular Junction / Q000201:enzymology*; D011950:Receptors, Cholinergic / Q000378:metabolism; D013569:Synapses / Q000201:enzymology; D009435:Synaptic Transmission; D013577:Syndrome
D011950:Receptors, Cholinergic; D000110:Acetylcholinesterase; D000109:Acetylcholine