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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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Bibliografische gegevens
Gepubliceerd in:Ann Transl Med
Hoofdauteurs: Lu, Qiang, Shang, Liang, Tian, Wo Tu, Cao, Li, Zhang, Xue, Liu, Qing
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: AME Publishing Company 2020
Onderwerpen:
Online toegang: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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