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'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

✍ Scribed by Garcia-Murias, M.; Quintans, B.; Arias, M.; Seixas, A. I.; Cacheiro, P.; Tarrio, R.; Pardo, J.; Millan, M. J.; Arias-Rivas, S.; Blanco-Arias, P.

Book ID
111929731
Publisher
Oxford University Press
Year
2012
Tongue
English
Weight
679 KB
Volume
135
Category
Article
ISSN
0006-8950

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## Abstract Autosomal dominant spinocerebellar ataxias (AD‐SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5′‐untranslated region of the __puratrophin‐1__ gene was found to be associated with one type of A