Article
A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2020
Martinelli Ilaria, Zucchi Elisabetta, Gessani Annalisa, Fini Nicola, Chiò Adriano, Pecoraro Valentina, Trenti Tommaso, Mandrioli Jessica
Abstract excerpt
Introduction: To date more than 180 different mutations in the SOD1 gene have been described in ALS; some of these mutations are associated to peculiar clinical features and have contributed to the understanding of disease heterogeneity. Only 5% of SOD1 mutations involve exon 3. Here we report a novel mutation c.197A > C in the exon 3 of the SOD1 gene in two apparently unrelated ALS families with early...
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