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Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia
BACKGROUND: Mutations in the STIP1 homology and U‐box containing protein 1 gene were first described in 2013 and lead to disorders with symptoms including ataxia and dysarthria, such as spinocerebellar autosomal‐recessive ataxia type 16 (SCAR16), Gordon‐Holmes syndrome, and spinocerebellar ataxia ty...
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| Publicado no: | Mov Disord Clin Pract |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7111583/ https://ncbi.nlm.nih.gov/pubmed/32258232 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12914 |
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