In cases of LGMD-2F-causing mutations reported so far, five (p.E93X, p.A131P, p.R165X, p.E262K, and c.656C) are located in the extracellular domain and only one (p.W30X) is located in the intracellular domain of the δ-SG protein [30–33]. This evidence concerns the gene DSG1 and autosomal recessive limb-girdle muscular dystrophy type 2F.