Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy
Matthew T. Sipple, Sakura A. Hamazaki, Vanessa Todorow, Lily A. Cisco, Katherine M Lupia, Christina S. Heil, Peter Meinke, Charles A. Thornton, John D. Lueck
This study shows that removing a specific splice variant of ClC-1 in a DM1 mouse model eliminates myotonia and improves muscle function and histology.
bioRxiv · Sep 19, 2025 · PreprintPhysiology