Article
Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death.
BMC medical genomics - 26 Oct 2023
Azimi Amir, Pourirahim Maryam, Houshmand Golnaz, Adimi Sara, Maleki Majid, Kalayinia Samira
Abstract excerpt
OBJECTIVE: We conducted an investigation into the clinical and molecular characteristics of Arrhythmogenic left ventricular cardiomyopathy (ALVC) caused by a novel likely pathogenic mutation in an Iranian pedigree with sudden cardiac death (SCD). BACKGROUND: ALVC is a genetically inherited myocardial disease characterized by the substitution of fibro-fatty tissue in the left ventricular myocardium, predominantly...
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