Abstract:SCA7 is an autosomal dominant neurological disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin‐7 gene on chromosome 3. Patients with infantile SCA‐7 have the largest repeat expansion characterized by progressive loss of coordination, dysarthria, dysphagia, retinal degeneration and respiratory distress. These infants succumb to death due to severe hypotonia, aspiration pneumonia and respiratory failure. Our objective is to comprehensively analyze the underlying mechanisms th… Show more
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