A zebrafish model of Bethlem myopathy reveals CaV1.1 as the missing link between collagen type VI deficiency and muscle dysfunction
Romane Idoux, Chloé Exbrayat-Heritier, Adrien Ducret, Shivashakthi Shivaraman, Marilyne Malbouyres, Francisco Jaque-Fernández, Christine Berthier, Frédéric Sohm, Vincent Jacquemond, Sandrine Bretaud, Florence Ruggiero, Bruno Allard
This study uses a zebrafish model of Bethlem myopathy to show that collagen VI deficiency disrupts CaV1.1 function, leading to increased sarcoplasmic reticulum Ca2+ leak and muscle dysfunction.
bioRxiv · Jun 2, 2025 · PreprintPathology