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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
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Journal Article
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
2019
Overview
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.
Publisher
Massachusetts Medical Society
Subject
