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.
Lingua originale | English |
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pagine (da-a) | 31-33 |
Numero di pagine | 3 |
Rivista | Journal of the Neurological Sciences |
Volume | 309 |
DOI | |
Stato di pubblicazione | Pubblicato - 2011 |
Keywords
- ALS