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A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis

✍ Scribed by Dangoumau, Audrey; Verschueren, Annie; Hammouche, Ellen; Papon, Marie-Amélie; Blasco, Hélène; Cherpi-Antar, Catherine; Pouget, Jean; Corcia, Philippe; Andres, Christian R.; Vourc'h, Patrick

Book ID
122626111
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
723 KB
Volume
35
Category
Article
ISSN
0197-4580

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A novel SOD1 mutation in a young amyotro
A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course
✍ Eleni Georgoulopoulou; Cinzia Gellera; Cinzia Bragato; Patrizia Sola; Annalisa C 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB

## Abstract Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been