Summary

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle–specific member of the calpain family. This report represents a compi-lation of the mutations and variants identified so far in this gene. To date, 97 distinct pathogenic calpain 3 mu-tations have been identified (4 nonsense mutations, 32 deletions/insertions, 8 splice-site mutations, and 53 mis-sense mutations), 56 of which have not been described previously, together with 12 polymorphisms and 5 non-classified variants. The mutations are distributed along the entire length of the CAPN3 gene. Thus far, mos