Mutations in cis regulatory elements result in altered AS of a single gene and are at the basis of several diseases, for example mutation in the 5′ splice site of the LMNA gene, encoding lamins causes the Limb Girdle Muscular Dystrophy type 1B (LGMD1B, OMIM # 159001), and splice site mutations in the dystrophin (DMD) gene has been observed in 20% of Duchenne Muscular Dystrophy patients (DMD, OMIM # 310200) [118] (rev in [6,7]). This evidence concerns the gene LMNA and Autosomal dominant limb-girdle muscular dystrophy type 1B.