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

We describe a novel genetic and kinetic defect in a slow-channel congenital myasthenic syndrome. The severely disabled propositus has advanced endplate myopathy, prolonged and biexponentially decaying endplate currents, and prolonged acetylcholine receptor (AChR) channel openings. Genetic analysis r...

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Publicado no:J Neurosci
Main Authors: Milone, Margherita, Wang, Hai-Long, Ohno, Kinji, Fukudome, Takayasu, Pruitt, J. Ned, Bren, Nina, Sine, Steven M., Engel, Andrew G.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 1997
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6573201/
https://ncbi.nlm.nih.gov/pubmed/9221765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.17-15-05651.1997
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