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(A) Localization of the mutation consisting of a DNA deletion of four bases (TGCC) in exon 3 of the CAPN3 gene (409–412 del TGCC) (red rectangle). (B) The mutation is located within the calpain-like thiol protease family (peptidase family C2) region, with the large subunit corresponding to a calcium activated neutral protease. (C) Main calpain 3 protein. (D) Domain I of the calpain 3 protein when the described mutation is present.
