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A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating
Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the α, δ, and ε but not the β subunit of acetylcholine receptor (AChR). A 16-year-old girl with severe myasthenia had low-amplitude and fast-decaying miniature endplate potentials. Mutation analysi...
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| Pubblicato in: | Exp Neurol |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7483818/ https://ncbi.nlm.nih.gov/pubmed/32504635 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.expneurol.2020.113375 |
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