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Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating
We identify two novel mutations in acetylcholine receptor (AChR) causing a slow-channel congenital myasthenia syndrome (CMS) in three unrelated patients (Pts). Pt 1 harbors a heterozygous βV266A mutation (p.Val289Ala) in the second transmembrane domain (M2) of the AChR β subunit (CHRNB1). Pts 2 and...
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| Опубликовано в: : | Hum Mutat |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2016
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5021579/ https://ncbi.nlm.nih.gov/pubmed/27375219 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23043 |
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