Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita

• Main Authors: Concetta Altamura (Author), Elena Conte (Author), Carmen Campanale (Author), Paola Laghetti (Author), Ilaria Saltarella (Author), Giulia Maria Camerino (Author), Paola Imbrici (Author), Jean-François Desaphy (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...