Given the significance of genetic variations in BVES, POPDC2 and POPDC3 to human health, it will be important to examine how mutations in these genes contribute to muscular dystrophy, cardiac arrhythmia and other conditions, in regard to the dysregulated cAMP signaling, and determine whether manipulating the cAMP signaling could rescue the pathologies associated with their genetic defects. Here, POPDC1 is linked to muscular dystrophy.