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Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by pathogenic variants in the SACS gene and is characterized by ataxia, peripheral neuropathy, pyramidal impairment and episodic conditions such as epilepsy. Paroxysmal kinesigenic dyskinesia (PKD) had not been...
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| Publicat a: | Ann Transl Med |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
AME Publishing Company
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6995733/ https://ncbi.nlm.nih.gov/pubmed/32055599 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.11.31 |
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