CAPN3 and autosomal recessive limb-girdle muscular dystrophy type 2A: In this manuscript, the case of a patient affected by LGMD2A is reported, for which the application of a defined custom designed NGS panel allowed to confirm the diagnosis of calpainopathy linked with two heterozygous variants in <i>CAPN3</i>, namely c.550delA and c.1813G>C.