Article
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
Human molecular genetics - 1 Dec 1998
Al-Chalabi A, Andersen P M, Chioza B, Shaw C, Sham P C, Robberecht W, Matthijs G, Camu W, Marklund S L, Forsgren L, Rouleau G, Laing N G, Hurse P V, Siddique T, Leigh P N, Powell J F
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismuta...
Topics
- Amino Acid Substitution
- Amyotrophic Lateral Sclerosis
- Family
- Family Health
- Female
- Founder Effect
- Genes, Recessive
- Genetic Linkage
- Heterozygote
- Homozygote
- Humans
- Linkage Disequilibrium
- Lod Score
- Male