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Figure 1 HCM: A Disease of Energy Deficiency
As indicated in red, the phenotype of hypertrophic cardiomyopathy (HCM) can arise from: 1) excessive energy use (e.g., by aberrant sarcomeres); 2) inadequate energy production (e.g., from poorly functioning mitochondria), inadequate metabolic substrates, or a failure to transfer energy across cellular compartments owing to cytoarchitectural defects as exemplified by muscle LIM protein (MLP) mutations; or 3) aberrant signaling of energy deficiency (e.g., with AMP-activated protein kinase [AMPK] mutations). The final common path for these diverse defects is energy deficiency and ensuing hypertrophy. ADP = adenosine diphosphate; AMP = adenosine monophosphate; ATP = adenosine triphospate; Cr = creatine; FAM = fatty acid metabolism.
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