CHKB Splicing Research: Alternative Splicing Events of Rare CHKB Variants in MDCMC
New research has uncovered how rare CHKB variants disrupt RNA splicing, directly contributing to the pathology of megaconial congenital muscular dystrophy (MDCMC). These findings offer deeper insight into how CHKB deficiency leads to mitochondrial dysfunction and severe neuromuscular symptoms....
