case_images: PMC11383649_01
case_images: Sanger sequencing of the patient's DNA showed compound heterozygous c.606dup mutation in exon 4 and heterozygous c.956C > T mutation in exon 7 of the CAPN3 gene. The former c.606dup mutation was inherited from the maternal DNA.
case_images: CRINM2024-2775517.001.jpg
case_images: PMC11383649_01_CRINM2024-2775517.001.jpg
case_images: fig1
case_images: Sanger sequencing revealed that the former frameshift mutation was inherited from his mother, and the inheritance of the latter missense mutation could not be confirmed due to the unavailability of the paternal DNA (Figure 1).