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Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

OBJECTIVE: To dissect the kinetic defects of acetylcholine receptor (AChR) γ subunit variant in an incomplete form of the Escobar syndrome without pterygium and compare it with those of a variant of corresponding residue in the AChR ε subunit in a congenital myasthenic syndrome (CMS). METHODS: Whole...

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Detalles Bibliográficos
Autores principales:	Shen, Xin‐Ming, Nakata, Tomohiko, Mizuno, Seiji, Imoto, Issei, Selcen, Duygu, Ohno, Kinji, Engel, Andrew G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187723/ https://www.ncbi.nlm.nih.gov/pubmed/36891870 http://dx.doi.org/10.1002/acn3.51756

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