PathologybioRxivPreprint
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…·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.
1 citation