Article
Molecular genetics and pathogenesis of Friedreich ataxia.
Neuromuscular disorders : NMD - 1 Aug 1998
Pandolfo M
Abstract excerpt
Friedreich ataxia, the most frequent cause of inherited ataxia, is due in most cases to a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene. The autosomal recessive inheritance of the disease gives this triplet repeat mutation some unique fea...
Topics
- Friedreich Ataxia
- Genotype
- Humans
- Iron-Binding Proteins
- Phenotype
- Phosphotransferases (Alcohol Group Acceptor)
- Point Mutation
- Repetitive Sequences, Nucleic Acid
- Frataxin