A novel L67P SOD1 mutation in an Italian ALS patient.

Giuseppe Marangi, Marcella Zollino, Mario Sabatelli, Alessandra Del Grande, Marco Luigetti, Amelia Conte, Irene Mancuso, Serena Lattante, Giuseppe Stipa

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

7 Citazioni (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. We describe a novel L67P mutation located in exon 3 of the Cu/Zn superoxide dismutase gene in a patient with pure lower motor neuron signs. To date, 11 mutations involving exon 3 of SOD1 have been described, including the present one. Our data confi rm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene.
Lingua originaleEnglish
pagine (da-a)150-152
Numero di pagine3
RivistaAmyotrophic Lateral Sclerosis
Volume12
DOI
Stato di pubblicazionePubblicato - 2011

Keywords

  • Amyotrophic lateral sclerosis
  • SOD1
  • exon 3
  • lower motor neuron

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