A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
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DOI: 10.1093/brain/awx081
Abstract: Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge… read more here.
Keywords: dominant cerebellar; ataxias; frequency; ataxia ... See more keywords