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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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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Lu, Qiang, Shang, Liang, Tian, Wo Tu, Cao, Li, Zhang, Xue, Liu, Qing
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2020
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Acesso em linha: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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