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

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Published in:Frontiers in neurology 2022, Vol.13, p.909715-909715
Main Authors: Gómez-García de la Banda, Marta, Simental-Aldaba, Emmanuel, Fahmy, Nagia, Sternberg, Damien, Blondy, Patricia, Quijano-Roy, Susana, Malfatti, Edoardo
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container_title Frontiers in neurology
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creator Gómez-García de la Banda, Marta
Simental-Aldaba, Emmanuel
Fahmy, Nagia
Sternberg, Damien
Blondy, Patricia
Quijano-Roy, Susana
Malfatti, Edoardo
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doi_str_mv 10.3389/fneur.2022.909715
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title Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
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