Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Ann Transl Med
Autors principals: Lu, Qiang, Shang, Liang, Tian, Wo Tu, Cao, Li, Zhang, Xue, Liu, Qing
Format: Artigo
Idioma:Inglês
Publicat: AME Publishing Company 2020
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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!