Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review

Hypokalemic periodic paralysis (hypoPP) is a disorder characterized by episodic, short-lived, and hypo-reflexive skeletal muscle weakness. HypoPP is a rare disease caused by genetic mutations related to expression of sodium or calcium ion channels. Most mutations are associated with autosomal domina...

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Detaylı Bibliyografya
Yayımlandı:Electrolyte Blood Press
Asıl Yazarlar: Kim, Hae Ri, Jeon, Jae Wan, Lee, Eu Jin, Ham, Young Rok, Na, Ki Ryang, Lee, Kang Wook, Park, Kee Hong, Kim, Seon Young, Choi, Dae Eun
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Society of Electrolyte Metabolism 2021
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8267070/
https://ncbi.nlm.nih.gov/pubmed/34290819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5049/EBP.2021.19.1.10
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