Title : Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings - Gomez-Garcia_2022_Front.Neurol_13_909715 |
Author(s) : Gomez-Garcia de la Banda M , Simental-Aldaba E , Fahmy N , Sternberg D , Blondy P , Quijano-Roy S , Malfatti E |
Ref : Front Neurol , 13 :909715 , 2022 |
Abstract : Gomez-Garcia_2022_Front.Neurol_13_909715 |
ESTHER : Gomez-Garcia_2022_Front.Neurol_13_909715 |
PubMedSearch : Gomez-Garcia_2022_Front.Neurol_13_909715 |
PubMedID: 35720108 |
Gomez-Garcia de la Banda M, Simental-Aldaba E, Fahmy N, Sternberg D, Blondy P, Quijano-Roy S, Malfatti E (2022)
Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
Front Neurol
13 :909715
Gomez-Garcia de la Banda M, Simental-Aldaba E, Fahmy N, Sternberg D, Blondy P, Quijano-Roy S, Malfatti E (2022)
Front Neurol
13 :909715