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  • Title: A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.
    Author: Georgoulopoulou E, Gellera C, Bragato C, Sola P, Chiari A, Bernabei C, Mandrioli J.
    Journal: Muscle Nerve; 2010 Oct; 42(4):596-7. PubMed ID: 20740631.
    Abstract:
    Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression.
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