Article
Superoxide dismutase (glu100-->gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers.
Neuroscience letters - 21 Apr 1995
Calder V L, Domigan N M, George P M, Donaldson I M, Winterbourn C C
Abstract excerpt
Superoxide dismutase glu100-->gly, a mutation known to be associated with familial motor neuron disease (familial amyotrophic lateral sclerosis) has been detected in one symptomatic and five of seven asymptomatic members of a family with a history of this disease. On average, the individuals with...
Topics
- Amyotrophic Lateral Sclerosis
- Electromyography
- Electrophoresis, Polyacrylamide Gel
- Erythrocytes
- Exons
- Female
- Humans
- Male
- Middle Aged
- Motor Neuron Disease
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Superoxide Dismutase