Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

por Gómez-García de la Banda, Marta, Simental-Aldaba, Emmanuel, Fahmy, Nagia, Sternberg, Damien, Blondy, Patricia, Quijano-Roy, Susana, Malfatti, Edoardo
Publicado 2022