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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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Dettagli Bibliografici
Pubblicato in:Exp Neurol
Autori principali: Shen, Xin-Ming, Di, Li, Shen, Shelley, Zhao, Yuying, Neumeyer, Ann M, Selcen, Duygu, Sine, Steven M., Engel, Andrew G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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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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