Later, it was found that mutations that are harbored in this 15q MCR in the Homo sapiens CAPN3 gene—which encodes the proteolytic enzyme calpain-3—are the cause of this phenotype (named muscular dystrophy, limb-girdle, type 2a; muscular dystrophy, limb-girdle, type 2; Lgmd2, muscular dystrophy, pelvofemoral, Leyden-Moebius muscular dystrophy, calpainopathy, limb-girdle muscular dystrophy type 2a, Lgmd2a, and calpain 3-related, limb-girdle muscular dystrophy type R1, Lgmdr1) [5]. The gene discussed is CAPN3; the disease is autosomal recessive limb-girdle muscular dystrophy type 2A.