The in-frame p.Lys254del-CAPN3 deletion is not sufficient to cause late-onset camptocormia in dominantly inherited calpainopathy
Andrea Valls, Gerardo Gutiérrez‐Gutiérrez, Agustín Martínez, Cristina Ruiz‐Roldán, Pilar Camaño, Adolfo López de Munaín, Amets Sáenz
The study shows that the p.Lys254del-CAPN3 mutation is not sufficient to cause late-onset camptocormia in dominant calpainopathy.
medRxiv · Jul 19, 2023 · PreprintGenetic & Genomic Medicine