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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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Dettagli Bibliografici
Pubblicato in:Hum Mutat
Autori principali: Shen, Xin-Ming, Okuno, Tatsuya, Milone, Margherita, Otsuka, Kenji, Takahashi, Koji, Komaki, Hirofumi, Giles, Elizabeth, Ohno, Kinji, Engel, Andrew G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Accesso online: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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