Absence of spinocerebellar ataxia type 3/Machado–Joseph disease within ataxic patients in the Czech population
✍ Scribed by P. O. Bauer; A. Zumrova; V. Matoska; T. Marikova; S. Krilova; A. Boday; B. Singh; P. Goetz
- Book ID
- 111064379
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 134 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1351-5101
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An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d
## Abstract Machado‐Joseph disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a translated CAG repeat expansion. Here, we present the first prenatal diagnosis of MJD in Taiwan in a woman whose husba