CAPN3 and limb-girdle muscular dystrophy: Loss of function mutations in CAPN3 have been linked with the autosomal recessive Limb-Girdle Muscular Dystrophy Recessive 1 (LGMDR1; OMIM: 253600 (formerly LGMD2A)) the most common form of LGMD worldwide, accounting for one third of all recessive cases with a prevalence of 1–9:100,000 (orpha.net).