New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome
LRP4 β1 螺旋桨结构域的新突变导致与 Cenani-Lenz 综合征相关的先天性肌无力综合征
期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-023-41008-5
Marion Masingue #, Olivia Cattaneo #, Nicolas Wolff, Céline Buon, Damien Sternberg, Morgane Euchparmakian, Myriam Boex, Anthony Behin, Kamel Mamchaouhi, Thierry Maisonobe, Marie-Christine Nougues, Arnaud Isapof, Bertrand Fontaine, Julien Messéant, Bruno Eymard, Laure Strochlic, Stéphanie Bauché