New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

por Masingue, Marion, Cattaneo, Olivia, Wolff, Nicolas, Buon, Céline, Sternberg, Damien, Euchparmakian, Morgane, Boex, Myriam, Behin, Anthony, Mamchaouhi, Kamel, Maisonobe, Thierry, Nougues, Marie-Christine, Isapof, Arnaud, Fontaine, Bertrand, Messéant, Julien, Eymard, Bruno, Strochlic, Laure, Bauché, Stéphanie
Publicado 2023

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

por Bauché, Stéphanie, Sureau, Alain, Sternberg, Damien, Rendu, John, Buon, Céline, Messéant, Julien, Boëx, Myriam, Furling, Denis, Fauré, Julien, Latypova, Xénia, Gelot, Antoinette Bernabe, Mayer, Michèle, Mary, Pierre, Whalen, Sandra, Fournier, Emmanuel, Cloix, Isabelle, Remerand, Ganaelle, Laffargue, Fanny, Nougues, Marie-Christine, Fontaine, Bertrand, Eymard, Bruno, Isapof, Arnaud, Strochlic, Laure
Publicado 2020