Article
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.
Neurogenetics - 1 Mar 2014
García-Velázquez Lizbeth E, Canizales-Quinteros Samuel, Romero-Hidalgo Sandra, Ochoa-Morales Adriana, Martínez-Ruano Leticia, Márquez-Luna Carla, Acuña-Alonzo Víctor, Villarreal-Molina M Teresa, Alonso-Vilatela M Elisa, Yescas-Gómez Petra
Abstract excerpt
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disease characterized by progressive cerebellar ataxia and macular degeneration causing progressive blindness. It accounts for 1 to 11.6 % of spinocerebellar ataxias (SCAs) cases worldwide and for 7.4 % of SCA7 cases in Mexico. We identified a cluster of SCA7 families who resided in a circumscribed area of Veracruz and investigated whether the high...
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