Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia.
Diana Angelika OlszewskaJustin A KinsellaPublished in: Movement disorders clinical practice (2020)
We present a comprehensive overview of the phenotypic data of all 15 families with SCAR16 and expand the phenotype by describing a third patient with SCAR16 and dystonia reported to date in the literature.