Article
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
Nature - 4 Jul 1991
La Spada A R, Wilson E M, Lubahn D B, Harding A E, Fischbeck K H
Abstract excerpt
X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated whether the androgen receptor gene on the proximal long arm of the X chromosome is a candidate gene for this disease. In patient samples we found androgen receptor gene mutations with increased size of a polymorphic...
Topics
- Base Sequence
- Genetic Linkage
- Humans
- Molecular Sequence Data
- Muscular Atrophy
- Muscular Atrophy, Spinal
- Mutation
- Receptors, Androgen
- Repetitive Sequences, Nucleic Acid
- X Chromosome