Article
Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy.
Neurology - 1 Dec 1992
Igarashi S, Tanno Y, Onodera O, Yamazaki M, Sato S, Ishikawa A, Miyatani N, Nagashima M, Ishikawa Y, Sahashi K
Abstract excerpt
X-linked spinal and bulbar muscular atrophy (SBMA), a motor neuron disease associated with androgen insensitivity, is caused by androgen receptor gene mutations with an increased number of tandem CAG repeats in exon 1. We investigated the increased number of CAG repeats in androgen receptor genes of 19 SBMA patients and found that this correlated strongly with the age at onset of muscle weakness. Thus, SBMA is...
Topics
- Adult
- Aged
- Base Sequence
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Muscular Atrophy, Spinal
- Phenotype
- Polymerase Chain Reaction