Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit

We identify 2 homozygous mutations in the ε-subunit of the muscle acetylcholine receptor (AChR) in 3 patients with severe congenital myasthenia: εR218W in the pre-M1 region in 2 patients and εE184K in the β8-β9 linker in 1 patient. Arg218 is conserved in all eukaryotic members of the Cys-loop recept...

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Опубликовано в: :JCI Insight
Главные авторы: Shen, Xin-Ming, Brengman, Joan M., Shen, Shelley, Durmus, Hacer, Preethish-Kumar, Veeramani, Yuceyar, Nur, Vengalil, Seena, Nalini, Atchayaram, Deymeer, Feza, Sine, Steven M., Engel, Andrew G.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2018
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5821208/
https://ncbi.nlm.nih.gov/pubmed/29367459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.97826
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