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Kinetic Alterations in Resurgent Sodium Currents of Mutant Na(v)1.4 Channel in Two Patients Affected by Paramyotonia Congenita

SIMPLE SUMMARY: Paramyotonia congenita (PMC) is a rare muscle disorder that causes myotonia and weakness of facial and limb muscles. The electromyography in PMC shows continual spontaneous, high-frequency spike potentials in skeletal muscles. Genetic mutations in the Na(v)1.4 channel that cause hype...

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Detalles Bibliográficos
Autores principales: Lee, Ming-Jen, Lin, Pi-Chen, Lin, Ming-Hong, Chiou, Hsin-Ying Clair, Wang, Kai, Huang, Chiung-Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031228/
https://www.ncbi.nlm.nih.gov/pubmed/35453812
http://dx.doi.org/10.3390/biology11040613

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