Article
The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.
Journal of neurology - 1 Aug 2010
Rabe Malessa, Felbecker Ansgar, Waibel Stefan, Steinbach Peter, Winter Pia, Müller Ulrich, Ludolph Albert C
Abstract excerpt
We screened 217 patients from Germany (n = 213), Austria (n = 2) and Switzerland (n = 2) with a positive family history for amyotrophic lateral sclerosis (ALS) for mutations in the copper/zinc superoxide dismutase (SOD1) gene. We found that 13% of the families tested carried mutations. By analyzing inheritance, we detected a clear-cut co-segregation in 5 of the 28 families; however, in two families with an...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
