SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.

Abstract excerpt

OBJECTIVE: Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this rare disease, we identified two unrelated patients with mutations in PRDX3. We explored the impact of PRDX3 mutation in patient skin fibroblasts and the role of the gene in neurodevelopment. METHODS: We performed trio exome...

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• Fibroblasts
• Mutation
• Spinocerebellar Ataxias
• Young Adult
• Zebrafish