Article
The DNA diagnosis for bulbospinal muscular atrophy.
Clinical neurology and neurosurgery - 1 Feb 1994
Ohno M, Yamada T, Kobayashi T, Goto I
Abstract excerpt
We showed the analysis of the androgen receptor gene in 6 patients with bulbospinal muscular atrophy (BSMA). Four of them had typical manifestations of Kennedy's disease, while the other 2 patients did not show androgen insensitive signs such as gynecomastia or testicular atrophy. Enlarged CAG re...
Topics
- DNA
- Electrophoresis, Agar Gel
- Genes, Recessive
- Humans
- Male
- Middle Aged
- Muscular Atrophy, Spinal
- Neurologic Examination
- Phenotype
- Polymerase Chain Reaction
- Receptors, Androgen
- Sex Chromosome Aberrations
- X Chromosome