Article
Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.
Neuromuscular disorders : NMD - 1 Jan 2000
Orrell R W
Abstract excerpt
Mutations of the SOD1 gene, encoding the enzyme copper/zinc superoxide dismutase, have been identified in around 20% of patients with familial amyotrophic lateral sclerosis (ALS), and also in patients with apparently sporadic ALS. The table documents the mutations identified and published to date, and references clinical and pathological descriptions of the patients and families with individual mutations. The...
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