CAPN3 and limb-girdle muscular dystrophy: The ClinVar database (ID: 128570) reports this variant to be associated with autosomal recessive type 2A LGMD, and it has been previously described in a homozygous or compound heterozygous form, suggesting that our patient, if affected with LGMD, should have a second pathogenic alteration in the CAPN3 gene as well.