Article
[DNA diagnosis of X-linked recessive bulbospinal muscular atrophy by androgen receptor gene mutations].
Rinsho shinkeigaku = Clinical neurology - 1 Mar 1992
Doyu M, Sobue G, Mukai E, Takahashi A, Mitsuma T
Abstract excerpt
X-linked recessive bulbospinal muscular atrophy (BSMA) is an adult-onset form of motor neuron disease, of which androgen receptor (AR) gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region was found by Fischbeck et al (1991). We investigated this AR gene abnor...
Topics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genes, Recessive
- Genetic Linkage
- Humans
- Infant
- Male
- Middle Aged
- Muscular Atrophy, Spinal
- Mutation
- Polymerase Chain Reaction
- Receptors, Androgen
- X Chromosome