The expanding clinical and genetic spectrum of ANO3 dystonia
Neuroscience Letters（2021）
Abstract
•Four rare variants of ANO3 were reported in six patients in this study.•One variant (c.1235 T > A, p.Val412Asp) was classified as “likely pathogenic”.•The late adulthood-onset, cranio-cervical dystonia is an important feature of ANO3 dystonia.•The clinical and genetic spectrum of ANO3 dystonia are highly heterogeneous.
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Key words
Dystonia,ANO3,Rare variant,Genotype,Phenotype
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