Patient-derived 3D engineered human muscle model recapitulates CLCN1 mis-splicing and myotonia in myotonic dystrophy type 1
Xiomara Fernández‐Garibay, María Sabater-Arcis, Ainoa Tejedera‐Villafranca, Kamel Mamchaoui, Anne Bigot, Mònica Suelves, Gisela Nogales‐Gadea, Ruben D. Artero, Javier Ramón‐Azcón, Juan M. Fernández‐Costa
This paper develops a 3D human muscle model from DM1 patient myoblasts that recapitulates CLCN1 mis-splicing and myotonia, and tests therapeutic responses.
bioRxiv · Feb 5, 2026 · PreprintBioengineering