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D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.
- Source :
-
Journal of the neurological sciences [J Neurol Sci] 2011 Oct 15; Vol. 309 (1-2), pp. 31-3. Date of Electronic Publication: 2011 Aug 11. - Publication Year :
- 2011
-
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.<br /> (Copyright © 2011 Elsevier B.V. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1878-5883
- Volume :
- 309
- Issue :
- 1-2
- Database :
- MEDLINE
- Journal :
- Journal of the neurological sciences
- Publication Type :
- Academic Journal
- Accession number :
- 21839474
- Full Text :
- https://doi.org/10.1016/j.jns.2011.07.041