Article

<i>Dsp<sup>S311A</sup></i>knock-in mice replicate the clinical-pathological features of dominant and recessive forms of Desmoplakin-related cardiomyopathies

2025-01-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background/Purpose</h4> Desmoplakin (DSP) mutations are linked to familial cardiomyopathies with a very high arrhythmogenic propensity. While autosomal recessive inheritance forms manifest in the cardio-cutaneous Carvajal syndrome, the dominant-inheritance variants associate to DSP-cardiomyopathy (DSP-CM). This latter is a subtype of Arrhythmogenic Cardiomyopathy characterized by frequent myo...

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Literature Corpus work: e41e7dd6-a4f5-5c96-9a10-634e8e819ffe
DOI: 10.1101/2025.01.14.24319713

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