Article
Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population.
Cerebellum (London, England) - 1 Dec 2013
Magaña J J, Gómez R, Maldonado-Rodríguez M, Velázquez-Pérez L, Tapia-Guerrero Y S, Cortés H, Leyva-García N, Hernández-Hernández O, Cisneros B
Abstract excerpt
Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by progressive cerebellar ataxia associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and blindness. The cause of the disease has been identified as (CAG) n repeat expansion in the coding sequence of the ATXN7 gene on chromosome 3p21.1. SCA7 is one of the least common genetically...
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