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Intergenerational CAG repeat instability and mutational flow in Cuban families with spinocerebellar ataxia type 2

✍ Scribed by Mederos, L. Almaguer; Mesa, J. Laffita; Zaldivar, Y. González; Almarales, D. Cuello; Gotay, D. Almaguer; Mojena, Y. Vázquez; Feria, P. Zayas; Sánchez, G.; Pérez, L. Velázquez


Book ID
122901771
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
73 KB
Volume
333
Category
Article
ISSN
0022-510X

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Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually