Genetic analysis of the sarcoglycanopathies is still a difficult task, in that we only identified one mutation in four of our patients with LGMD2D and LGMD2E and found various types of mutations in SGCA, SGCB, and SGCG. Another mutation remains unknown and might be deep intronic variants on the other allele; for example, the homozygous intronic deletion of SGCA has been described in a patient with LGMD2D [9]. This evidence concerns the gene SGCA and autosomal recessive limb-girdle muscular dystrophy type 2E.