[26–28] They found calpain 3 was not detected by western blotting, which is probably due to its degradation by nonsense-mediated mRNA decay. Three patients harbored two null alleles, and were ...

Background Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutations in the CAPN3 gene and complete lack of functional calpain 3 leads to the most severe muscle wasting. Calpain 3 is ...