MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS

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Summary

Literature (1)

Literature for OMIM 254190: MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS

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ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and Epilepsy., Marquez J,Rouxel F,It FE,Couturier V,Duplomb L,Bourgeois V,Briffaut AS,Bruel AL,Chevarin M,Ganne B,Ng BG,Viviano S,Hektor MPN,Pasha RA,Gatinois V,Larrieu-Arguille C,Faure JM,Prodhomme O,Colmard M,Rivier F,Yukimune O,Poe C,Rouvet I,Vitobello A,Thauvin C,Rodriguez-Gomez GD,Tolusso LK,Katata Y,Kikuchi A,Hoffman TL,Andersson HC,Deniz E,He M,Wells CF,Denommé-Pichon AS,Edmondson AC,Freeze HH,Lam C, HGG Adv. July 8, 2026; :2666-2477.

ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and Epilepsy., Marquez J,Rouxel F,It FE,Couturier V,Duplomb L,Bourgeois V,Briffaut AS,Bruel AL,Chevarin M,Ganne B,Ng BG,Viviano S,Hektor MPN,Pasha RA,Gatinois V,Larrieu-Arguille C,Faure JM,Prodhomme O,Colmard M,Rivier F,Yukimune O,Poe C,Rouvet I,Vitobello A,Thauvin C,Rodriguez-Gomez GD,Tolusso LK,Katata Y,Kikuchi A,Hoffman TL,Andersson HC,Deniz E,He M,Wells CF,Denommé-Pichon AS,Edmondson AC,Freeze HH,Lam C, HGG Adv. July 8, 2026; :2666-2477.