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Fatigue and daytime somnolence in Machado Joseph Disease (spinocerebellar ataxia type 3)

✍ Scribed by Joseph H. Friedman; Melissa M. Amick


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
275 KB
Volume
23
Category
Article
ISSN
0885-3185

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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