title: A SOD1 gene mutation in a patient with slowly progressing familial ALS.
abstract: We report a new missense mutation (Gly12Arg) [corrected] in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS). The clinical course showed an unusually slow progression. The enzymatic activity of the mutated SOD1 was 80% of normal. At the molecular level, the Gly12Arg [corrected] mutation occurs in a region outside the active site and may lead to local distortion strain in the protein structure.
authors.affiliation: Department of Oncology, University of Genova, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Penco
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: D
authors.initials: D
authors.lastname: Bordo
authors.forename: M
authors.initials: M
authors.lastname: Bolognesi
authors.forename: M
authors.initials: M
authors.lastname: Abbruzzese
authors.forename: O
authors.initials: O
authors.lastname: Bugiani
authors.forename: F
authors.initials: F
authors.lastname: Ajmar
authors.forename: C
authors.initials: C
authors.lastname: Garrè
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013997:Time Factors
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1