Article
Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country.
European journal of neurology - 1 Mar 2000
Khoris J, Moulard B, Briolotti V, Hayer M, Durieux A, Clavelou P, Malafosse A, Rouleau G A, Camu W
Abstract excerpt
The Cu,Zn superoxide dismutase (Cu,Zn SOD) mutations described in amyotrophic lateral sclerosis (ALS) have, for the most part, a dominant influence. However, while a few cases with a heterozygous D90A mutation have been described in different countries, D90A has been recently proven to be recessively inherited with a common founder effect in Scandinavia. We screened French ALS families for Cu,Zn SOD mutations....
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