Project 1. Cardioskeletal myopathy associated with mutations in myosin Regulatory Light Chain (RLC)
Infantile fiber-type I hypotrophy with simultaneously occurring severe onset of cardiomyopathy was reported in multiple Dutch and Italian families and genetically linked to the MYL2 gene encoding for the human myosin regulatory light chain RLCventr/slow concurrently expressed in cardiac ventricles and in slow-twitch skeletal muscles. To address the molecular origin of this novel RLCventr/slow-induced cardioskeletal […]