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Article

[Spinocerebellar ataxia type VII (AEC 7). Report of a Spanish family with the disease].

Revista de neurologia - 1 Jan 2000

Mayo D, Yusta A, Vázquez J M, García-Ruiz P, Robledo M, Benítez J

Abstract excerpt

INTRODUCTION: The dominant autosomic ataxias are a group of neurodegenerative disorders caused by expansion of a CAG triplet in different genes, found along the genome. The dominant autosomic ataxias present very varied clinical findings. However, genetic studies are being done to establish the genotype-phenotype relationship of the different autosomal dominant ataxias. CLINICAL CASE: A 50 year old man had...

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PMID: 10416231

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