ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution

Abstract excerpt

Here, we signpost a case of a childhood-onset chorea-dominant phenotype later evolved into a dystonia-dominant phenotype during adulthood, in a subject carrying a missense pathogenic variant (c.1528 G > A; p.Glu510Lys)1 in the anoctamin 3 protein-coding gene (ANO3, DYT24, OMIM 610110).2 This white, Caucasian, right-handed male presented with lower limb chorea-dystonia at the age of 8, initially involving the...

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