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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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| Gepubliceerd in: | Ann Transl Med |
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| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
AME Publishing Company
2020
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| 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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