A SOD1 gene mutation in a patient with slowly progressing familial ALS
- 1 July 1999
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 53 (2), 404
- https://doi.org/10.1212/wnl.53.2.404
Abstract
Article abstract We report a new missense mutation (Gly12Ala) 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 Gly12Ala mutation occurs in a region outside the active site and may lead to local distortion strain in the protein structure.Keywords
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