Article
X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene.
Muscle & nerve - 1 Dec 1995
Shimada N, Sobue G, Doyu M, Yamamoto K, Yasuda T, Mukai E, Kachi T, Mitsuma T
Abstract excerpt
Clinical phenotypes and the CAG repeat size of the androgen receptor gene were assessed in 95 Japanese patients with X-linked recessive bulbospinal neuronopathy. There was an age- and duration-dependent deterioration of muscle strength, ADL scores, and plasma creatine kinase levels. However, ther...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Base Sequence
- Child
- Family
- Female
- Genetic Linkage
- Humans
- Japan
- Male
- Middle Aged
- Molecular Sequence Data
- Muscular Atrophy
- Phenotype
- Receptors, Androgen
- Repetitive Sequences, Nucleic Acid