Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit

Neuron

Volumn 17, Issue 1, 1996, Pages 157-170

  Ohno, Kinji ^a   Wang, Hai Long ^a   Milone, Margherita ^a   Bren, Nina ^a   Brengman, Joan M ^a   Nakano, Satoshi ^a   Quiram, Polly ^a   Pruitt, Jerry N ^a   Sine, Steven M ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; COMPLEMENTARY DNA; MESSENGER RNA; RECEPTOR SUBUNIT; SIGNAL PEPTIDE;

ADULT; ARTICLE; CASE REPORT; CHANNEL GATING; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; EATON LAMBERT SYNDROME; ENDPLATE POTENTIAL; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MINIATURE ENDPLATE POTENTIAL; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR AFFINITY; RECEPTOR BINDING; RECEPTOR DENSITY; RECEPTOR DOWN REGULATION; RECEPTOR OCCUPANCY; ULTRASTRUCTURE;

EID: 15844429136     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-6273(00)80289-5     Document Type: Article

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