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Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
Myotonia congenita (MC) is an inherited rare disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. It is caused by loss-of-function mutations in the skeletal muscle chloride channel ClC-1, important for the stabilization of resting membrane potential a...
Autores principales: | Altamura, Concetta, Conte, Elena, Campanale, Carmen, Laghetti, Paola, Saltarella, Ilaria, Camerino, Giulia Maria, Imbrici, Paola, Desaphy, Jean-François |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403836/ https://www.ncbi.nlm.nih.gov/pubmed/36034862 http://dx.doi.org/10.3389/fphar.2022.958196 |
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