In cases of LGMD2H, it has been identified that mutations gathered in the NHL (named after the proteins NCL1, HT2A and LIN-41) domain result in LGMD2H/sarcotubular myopathy, whereas in Bardet-Biedl Syndrome, mutations are most commonly located in the B-box region of the gene. Here, CAPN3 is linked to autosomal recessive limb-girdle muscular dystrophy type 2H.