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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...
Uloženo v:
| Vydáno v: | J Neurosci |
|---|---|
| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Society for Neuroscience
1997
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| Témata: | |
| On-line přístup: | 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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