Article
The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis.
Archives of neurology - 1 Feb 2006
Régal Luc, Vanopdenbosch Ludo, Tilkin Petra, Van den Bosch Ludo, Thijs Vincent, Sciot Rafael, Robberecht Wim
Abstract excerpt
BACKGROUND: Twenty percent of familial amyotrophic lateral sclerosis (ALS) is caused by mutations in the superoxide dismutase 1 gene (SOD1). Few data exist on their clinicopathologic phenotypes. OBJECTIVES: To determine the clinical and pathologic phenotype associated with the G93C mutation in SOD1 and to compare survival in familial ALS related to this mutation with survival in other ALS subgroups. DESIGN:...
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