To identify the markers tightly linked to Machado-Joseph disease (MJD) and to investigate whether a limited number of ancestral chromosomes are shared by Japanese MJD pedigrees, a detailed linkage analysis employing D14S55, D14S48, D14S67, D14S291, D14S280, AFM343vf1, D14S81, D14S265, D14S62, and D1
Analysis of segregation patterns in Machado–Joseph disease pedigrees
✍ Scribed by Conceição Bettencourt; Cristina Santos; Teresa Kay; João Vasconcelos; Manuela Lima
- Publisher
- Nature Publishing Group
- Year
- 2008
- Tongue
- English
- Weight
- 175 KB
- Volume
- 53
- Category
- Article
- ISSN
- 1435-232X
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MJD is the most frequent dominant ataxia and an incapacitating disorder. Onset is most frequently during the reproductive years, and genetic counselling is its only means of prevention. The causative mutation-an expansion of a (CAG) n on chromosome 14q32.1-can now be directly detected. We now report
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