Article
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
Neuromuscular disorders : NMD - 1 Sept 1995
Sapp P C, Rosen D R, Hosler B A, Esteban J, McKenna-Yasek D, O'Regan J P, Horvitz H R, Brown R H
Abstract excerpt
About 10% of cases of amyotrophic lateral sclerosis (ALS), a paralytic disorder characterized by death of motor neurons in the brain and spinal cord, exhibit autosomal dominant inheritance. A subgroup of these familial cases are caused by mutations in the gene encoding Cu/Zn superoxide dismutase...
Topics
- Adult
- Age of Onset
- Aged
- Amyotrophic Lateral Sclerosis
- Base Sequence
- Exons
- Genes, Dominant
- Humans
- Middle Aged
- Molecular Sequence Data
- Mutation
- Open Reading Frames
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- RNA Splicing