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A large Japanese family with Machado-Joseph disease: clinical and genetic studies

✍ Scribed by Y. Takiyama; S. Ikemoto; Y. Tanaka; Y. Mizuno; M. Yoshida; N. Yasuda


Book ID
114782889
Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
583 KB
Volume
79
Category
Article
ISSN
0001-6314

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Electrophysiological findings in a Danis
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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