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The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis
Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for...
Autores principales: | Kim, June-Bum, Kim, Man-Ho, Lee, Soon Ju, Kim, Dae-Joong, Lee, Byung Churl |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694642/ https://www.ncbi.nlm.nih.gov/pubmed/18162704 http://dx.doi.org/10.3346/jkms.2007.22.6.946 |
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