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Clinical and genetic analysis of an Italian family with Machado-Joseph disease

✍ Scribed by Paolo Forleo; Elena Cellini; Lucilla Parnetti; Donatella Murasecco; Virgilio Gallai; Benedetta Nacmias; Sandro Sorbi


Publisher
Springer
Year
2001
Tongue
English
Weight
137 KB
Volume
248
Category
Article
ISSN
0340-5354

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genes and who were found to be negative. 1 In this group of 122 patients, we identified 5 patients with an FMR1 premutation and in 4 of them a definite diagnosis of fragile Xassociated tremor/ataxia syndrome (FXTAS) could be made, based on the proposed diagnostic criteria for FXTAS. We proposed base