A new CYS1678TYR mutation responsible of LGMD2B identified in a family from Southern Italy

Mutations in the gene DYSF encoding dysferlin are responsible for dysferlinopathies. Dysferlin is mainly expressed in cardiac and skeletal muscle and appears to play an important role in the repair of the plasmalemma. Intra- and inter-family phenotypic variability has been reported in the literature for mutations in the DYSF gene. A new Cys1678Tyr mutation responsible of LGMD2B has been identified in a family from southern Italy.