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.
|Number of pages||3|
|Publication status||Published - Jul 22 1999|
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