Article
Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.
Neurology - 1 Apr 1993
Amato A A, Prior T W, Barohn R J, Snyder P, Papp A, Mendell J R
Abstract excerpt
We confirmed a mutation of the androgen receptor gene as the cause for Kennedy's disease, also called "X-linked recessive spinal and bulbar muscular atrophy" or "bulbospinal neuronopathy." The mutation is characterized by an increased size of a polymorphic tandem CAG repeat within the first exon of the gene. The study population consisted of 17 patients from seven families (five distinct kinships and two isolated...
Topics
- Creatine Kinase
- DNA
- Female
- Fragile X Syndrome
- Genetic Linkage
- Heterozygote
- Humans
- Male
- Muscles
- Muscular Atrophy
- Muscular Atrophy, Spinal
- Mutation