Although the underlying pathological mechanisms involved in LGMDR1 are not well known, studies of Capn3 knockdown mice identified a human calpainopathy-like phenotype, thus indicating that this disease is caused by defects in the CAPN3 gene (MIM #114240), which is located on chromosome 15q15 [3]. The gene discussed is CAPN3; the disease is autosomal recessive limb-girdle muscular dystrophy type 2A.