The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.

Abstract excerpt

BACKGROUND: Despite the genetic heterogeneity reported in familial ALS (FALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the most frequent cause of FALS, accounting for around 20% of familial cases (ALS1) and isolated sporadic cases. Some mutations are associated with a long survival time, while others are linked to a very rapid progression. Clinical-genetic characterization of ALS1 families is...

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