Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.
Xin-Ming ShenTomohiko NakataSeiji MizunoIssei ImotoDuygu SelcenKinji OhnoAndrew G EngelPublished in: Annals of clinical and translational neurology (2023)
Similar impairment of channel gating efficiency of a corresponding P121 residue in the acetylcholine-binding site of the AChR γ and ε subunits causes Escobar syndrome without pterygium and fast-channel CMS, respectively, suggesting that therapy for the fast-channel CMS will benefit Escobar syndrome.
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