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An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by thede novocreation of a cardiomyocyte enhancer

2024-08-20

Abstract excerpt

A substantial proportion of mutations underlying rare Mendelian diseases remain unknown, potentially because they lie in the non-coding genome. Here, we report the mapping of the causal mutation of an autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, which is associated with widespread ST-depression on the electrocardiogram together with risk of sudden death and heart failure, to the non-codi...

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Literature Corpus work: 2b0ed901-75e1-5b77-bb47-cfd27b0ba429
DOI: 10.1101/2024.08.20.24312115

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An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by the<i>de novo</i>creation of a cardiomyocyte enhancer

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