However, we could not conclude that null mutations in patients with LGMD2D were associated with a severe disease course because of the variation in disease severity of our patients with LGMD2D and null mutations in SGCA. Some studies have found that null mutations in SGCA were also associated with mild disease severity [9, 10]. Here, SGCA is linked to autosomal recessive limb-girdle muscular dystrophy type 2D.