Melusin has been found upregulated in muscle from patients affected by limb-girdle muscular dystrophy type 2A (LGMD2A), where it regulates the replacement of the integrin β1A isoform with the β1D isoform, affecting costamere assembly and myotube fusion [186]. The gene discussed is ITGB1BP2; the disease is autosomal recessive limb-girdle muscular dystrophy type 2A.