Figure 3 CAPN3 gene mutation analysis in DNA samples from patients with loss of calpain‐3 autolytic activity. Example of SSCP analysis (A, B) showing the aberrant migration pattern (conformer) of samples numbered 3, 7, 11 and 13 as compared with control (number 1). Example of direct DNA sequencing of exon 11 in a normal control (C), in a patient homozygotic for 1469G→A, R490Q missense mutation (D), and in a patient heterozygote for 1469G→A, R490Q missense mutation (E). Asterisks indicate the localisation of mutant nucleotides.