Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 381, Issue 5, Pages 486-488Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMc1905039
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Funding
- Swedish Brain Foundation
- Knut and Alice Wallenberg Foundation
- Swedish Research Council
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In a child with a homozygous truncating mutation in SOD1, SOD1 activity in red cells was absent and fibroblasts grew only with oxygen deprivation. There was predominant impairment of upper motor neurons, a trait that has led to caution against severe SOD1 suppression in clinical trials involving patients with amyotrophic lateral sclerosis.
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