Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy

Alterations of excitation–contraction co

Alterations of excitation–contraction coupling and excitation coupled Ca2+ entry in human myotubes carrying CAV3 mutations linked to rippling muscle

✍ Nina D. Ullrich; Dirk Fischer; Cornelia Kornblum; Maggie C. Walter; Ernst Niggli 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB

Rippling muscle disease is caused by mutations in the gene encoding caveolin-3 (CAV3), the muscle-specific isoform of the scaffolding protein caveolin, a protein involved in the formation of caveolae. In healthy muscle, caveolin-3 is responsible for the formation of caveolae, which are highly organi