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A Japanese family with Machado-Joseph disease characterized by initial emaciation and myoclonus

โœ Scribed by M. Aoki; K. Abe; T. Nagata; T. Kameya; M. Watanabe; H. Onodera; H. Mochizuki; Y. Itoyama


Book ID
115236075
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
598 KB
Volume
2
Category
Article
ISSN
1351-5101

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โœ Eskild Colding-Jรธrgensen; Sven Asger Sรธrensen; Lis Hasholt; Martin Lauritzen ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 736 KB

Machado-Joseph disease (MJD) is a neurodegenerative disorder with auto-soma1 dominant inheritance. We have carried out electrophysiological studies in 8 individuals belonging to a Danish family with several affected members. Five had an expanded trinucleotide (CAG) repeat sequence in the MJDl gene o