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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

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Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly… Click to show full abstract

Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia.

Keywords: ataxia type; spinocerebellar ataxia; genotype phenotype; phenotype correlations; correlations dystonia

Journal Title: Movement Disorders
Year Published: 2018

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