Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor α subunit

Journal of Neuroscience

Volumn 17, Issue 15, 1997, Pages 5651-5665

  Milone, Margherita ^a   Wang, Hai Long ^a   Ohno, Kinji ^a   Fukudome, Takayasu ^a   Pruitt, J Ned ^a   Bren, Nina ^a   Sine, Steven M ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

Acetylcholine receptor subunit gene; Agonist binding affinity; Desensitization; Endplate myopathy; Mutation analysis; Neuromuscular transmission; Single channel recording; Slow channel congenital myasthenic syndrome

Indexed keywords

CHOLINERGIC RECEPTOR;

ARTICLE; BINDING AFFINITY; BINDING KINETICS; BINDING SITE; CASE REPORT; CHILD; DESENSITIZATION; EATON LAMBERT SYNDROME; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MALE; MOSAICISM; NERVE ENDING; NEUROTRANSMISSION; PATHOGENESIS; PRIORITY JOURNAL; RECEPTOR BINDING;

EID: 0030757151     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.17-15-05651.1997     Document Type: Article

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