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A new phenotype of choreic syndrome associating severe freezing of gait and chorea
The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion.
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495783/ https://www.ncbi.nlm.nih.gov/pubmed/32983500 http://dx.doi.org/10.1002/ccr3.3008 |