Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family

Hypokalemic periodic paralysis (HypoPP) is a rare autosomal dominant disorder characterized by episodic flaccid paralysis with concomitant hypokalemia. More than half of patients were associated with mutations in CACNA1S that encodes the alpha-1-subunit of the skeletal muscle L-type voltage-dependen...

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Detalles Bibliográficos
Autores principales: Jin, Jie-Yuan, Guo, Bing-Bing, Dong, Yi, Sheng, Yue, Fan, Liang-Liang, Zhang, Li-Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586648/
https://www.ncbi.nlm.nih.gov/pubmed/34777470
http://dx.doi.org/10.3389/fgene.2021.743184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586648/
https://www.ncbi.nlm.nih.gov/pubmed/34777470
http://dx.doi.org/10.3389/fgene.2021.743184

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