Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

摘要

Superoxide dismutase-1 (SOD1) is a ubiquitously expressed antioxidant enzyme. Mutations in SOD1 are associated with domi-nantly inherited amyotrophic lateral sclerosis, probably caused by the toxic effects of the protein rather than by loss of enzymatic activity.1-2 Here we report the clinical features of a girl with a homozygous truncating mutation and an absence of SOD1 activity.