Mutations of <b> <i>FUS</i> </b> gene in sporadic amyotrophic lateral sclerosis

Abstract

The results show that FUS missense mutations are present in 0.7% of Italian SALS cases, and confirm the previous mutational frequency reported in FALS (4.4%). An unusual proximal and axial clinical presentation seems to be associated with the presence of the p.R521C mutation.