Next-generation sequencing identified a heterozygous pathogenic calpain 3 (CAPN3) variant [NM_000070.3(CAPN3):c.2393C > A (p.Ala798Glu)], which is responsible for autosomal-recessive CAPN3-related LGMD R1. This evidence concerns the gene CAPN3 and limb-girdle muscular dystrophy.