Which protein is defective most commonly in dilated cardiomyopathy?
Correct Answer: Titin
Description: In dilated cardiomyopathy, mutations in TTN, a gene that encodes titin (so-called because it is the largest protein expressed in humans), may account for approximately 20% of all cases of DCM. Additionally, mutations affecting the membrane-associated dystrophin protein that couples cytoskeleton to the extracellular matrix are also repoed.
Category:
Pathology
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