We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role. © 2011 Elsevier B.V. All rights reserved.
D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation
Lattante S.;
2011-01-01
Abstract
We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role. © 2011 Elsevier B.V. All rights reserved.File in questo prodotto:
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