CAPN1 and autosomal recessive limb-girdle muscular dystrophy type 2A: These missense mutants (corresponding mutations in the bovine CAPN1: Arg104Gly, Glu203Lys, Gly208Arg, Glu212Lys, Arg385His, Asp600Gly) had specific activities consistent with a pathogenic role in LGMD-2A.