At the present time, molecular genetic diagnosis of Czech LGMD2 patients follows the following scheme: sequencing of all exons and adjacent intron regions of the CAPN3 gene, detection of the most common mutation p.Leu276Ile in the FKRP gene, and sequence capture and targeted resequencing of genes associated with neuromuscular disorders. The gene discussed is CAPN3; the disease is autosomal recessive limb-girdle muscular dystrophy type 2A.