Figure 2.

(A) cDNA gel electrophoresis (left to right): Lane 1: DNA molecular marker (200-800 bp); lane 2: Wild-type or normal CAPN3 cDNA (proband's father); lane 3-5: Mutated CAPN3 cDNA (proband, proband's younger sister, proband's mother). (B) Sequencing result of normally spliced wild-type or normal CAPN3 cDNA (proband's father) showing only exons 22, 23 and 24. Sequencing results of the aberrantly spliced mutated CAPN3 cDNA (proband, proband's younger sister, proband's mother) showing only exons 22 and 23 (complete loss of exon 24). (C) Schematic presentation of the splicing event of both wild type and mutated CAPN3 cDNA. CAPN3, calpain 3.