Article
Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis.
Neuromuscular disorders : NMD - 1 Jan 1995
Parboosingh J S, Rouleau G A, Meninger V, McKenna-Yasek D, Brown R H, Figlewicz D A
Abstract excerpt
Familial amyotrophic lateral sclerosis (FALS) is an autosomal dominant, adult onset, neurological disorder caused by the degeneration of motor neurons of the cortex, brainstem and spinal cord. Recently, the defective gene in some FALS families was identified as the Cu/Zn superoxide dismutase (SOD1) gene. However, SOD1 mutations are present in approximately 20% of patients with FALS. We have tested the genes of...
Topics
- Amyotrophic Lateral Sclerosis
- Base Sequence
- Catalase
- DNA Probes
- Exons
- Genes, Dominant
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational
- Superoxide Dismutase