D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

Giuseppe Marangi, Marcella Zollino, Mario Sabatelli, Alessandra Del Grande, Amelia Conte, Serena Lattante, Marco Luigetti, Francesca Madia, Giulia Bisogni

Risultato della ricerca: Contributo in rivistaArticolo in rivista

9 Citazioni (Scopus)

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 originaleEnglish
pagine (da-a)31-33
Numero di pagine3
RivistaJournal of the Neurological Sciences
Volume309
DOI
Stato di pubblicazionePubblicato - 2011

Keywords

  • ALS

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