The mutation properties of spinal and bulbar muscular atrophy disease alleles
โ Scribed by R. P. Grewal; E. P. Leeflang; L. Zhang; N. Arnheim
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 212 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1364-6745
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Spinal-bulbar muscular atrophy (SBMA) is a rare X-linked neuronopathy associated with an abnormal representation of androgen receptors in the nervous system. Standard nerve conduction and histopathological studies have disclosed the involvement of large myelinated sensory fibers in the spinal nerves
## Abstract Introduction: A reliable electrophysiological marker for clinical trials is increasingly needed in spinal and bulbar muscular atrophy (SBMA). We previously developed a quantitative analysis method for surface electromyography (SEMG), the clustering index (CI) method. Our purpose was to
## Abstract A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dys