Our study reveals that the new missense variant c.5033G>A, p.Cys1678Tyr (NM_003494), located in the exon 45 of DYSF gene, is related to Limb Girdle Muscular Dystrophy type R2/2B in a patient with clinical suspicion of LGMD from a consanguineous family of south Italy. This evidence concerns the gene DYSF and limb-girdle muscular dystrophy.