Genetic & Genomic MedicinemedRxivPreprint
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…·Amets Sáenz
The study shows that the p.Lys254del-CAPN3 mutation is not sufficient to cause late-onset camptocormia in dominant calpainopathy.
DOI 10.1101/2023.07.19.23292361