AKAP6 and dilated cardiomyopathy: Additionally, a study done by Puckelwartz et al., 2010 [56] revealed that a human missense mutation R374H, found within the mAKAP nesprin-1 alpha domain (a protein responsible for tethering mAKAP to the nuclear membrane) from a patient with dilated cardiomyopathy, required cardiac transplantation.