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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |