Why the study?
Truncating variants in titin (TTNtv) are prevalent in DCM with reduced penetrance, and the mechanistic link between TTNtv and metabolic alterations remains unclear.
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This study aims to identify the mechanistic link between titin truncating variants and metabolic alterations in dilated cardiomyopathy using patient-derived iPSC cardiomyocytes.
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Sophia Stroeks (2026) studied this question.
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