A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course
- 25 August 2010
- journal article
- case report
- Published by Wiley in Muscle & Nerve
- Vol. 42 (4), 596-597
- https://doi.org/10.1002/mus.21750
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 described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression. Muscle Nerve, 2010This publication has 9 references indexed in Scilit:
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