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. 2011 Apr 1;121(5):1871–1881. doi: 10.1172/JCI44393

Figure 8. Convergence of different mechanistic pathways in common pathology.

Figure 8

(A) Proposed schema for different genes acting on separate mechanistic pathways, yet ultimately resulting in a common expression of disease. (B) Genetic studies of hypertrophic cardiomyopathy highlight genes that can be grouped broadly into 2 separate mechanistic pathways: sarcomeric proteins such as β-myosin heavy chain (MYH7), and metabolic genes including adenosine monophosphate-activated protein kinase (PRKAG2). (C) Studies of mouse development, cell biology, and signaling suggest that KRIT1 and CCM2 signal through RhoA GTPase, while PDCD10 signals through GCKIII kinases to lead to cavernous malformations.