title: R521C mutation in the FUS/TLS gene presenting as juvenile onset flail leg syndrome.
authors.affiliation: Department of Neurology, CHU Nîmes, Hôpital Caremeau, Nîmes, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Taieb
authors.forename: Pierre
authors.initials: P
authors.lastname: Labauge
authors.forename: Andre Maues
authors.initials: AM
authors.lastname: De Paula
authors.forename: Adelaide
authors.initials: A
authors.lastname: Ferraro
authors.forename: Serge
authors.initials: S
authors.lastname: Lumbroso
authors.forename: Dimitri
authors.initials: D
authors.lastname: Renard
mesh_terms: D001120:Arginine / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D006801:Humans; D007866:Leg / Q000002:abnormalities / Q000503:physiopathology; D038061:Lower Extremity Deformities, Congenital / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: D034702:RNA-Binding Protein FUS; D001120:Arginine; D003545:Cysteine