Article
Genetics of sporadic ALS.
Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases - 1 Mar 2001
Andersen P M
Abstract excerpt
The only known gene to be involved in ALS is the CuZn-superoxide dismutase (CuZn-SOD) gene. Since 1993, 89 disease-associated mutations have been found in this gene, 14 of them in cases with apparently sporadic ALS. Most frequent are the D90A (most often with recessive inheritance, but a few with dominant inheritance) and the I113T (dominant inheritance with variable penetrance). Statistical and genealogical...
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