Figure 1: Read pile-ups derived from PGM sequencing. A segment of the read pile-ups for exon 3 of CAPN3. Sequencing results completely matched the reference sequence (Normal). However, a single nucleotide mismatch was detected in the patient at nucleotide 42, 678, 410 that replaced C with T (Patient). This nucleotide change corresponded to c.424 C>T of CAPN3 and changed CAG (glutamine) to TAG (stop codon) at the 142nd amino acid residue (p.Q142X). Thus, the index case is homozygous for this nonsense mutation