Article
Familial amyotrophic lateral sclerosis.
Clinical neuroscience (New York, N.Y.) - 1 Jan 2000
Siddique T, Hentati A
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is inherited in ten percent of cases as a Mendelien trait. Familial ALS (FALS) is genetically heterogeneous and transmitted either as an autosomal dominant (DFALS) or an autosomal recessive (RFALS) trait. Fifteen percent of DFALS families have mutations in the gene for Cu,Zn superoxide dismutase (SOD1) which is coded on chromosome 21. These mutations result in decreased SOD1...
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