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Aims
Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM.
Methods and results
We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA...
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