Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death

Abstract 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 my...

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Bibliographic Details
Main Authors: Amir Azimi, Maryam Pourirahim, Golnaz Houshmand, Sara Adimi, Majid Maleki, Samira Kalayinia
Format: Article
Language:English
Published: BMC 2023-10-01
Series:BMC Medical Genomics
Subjects:
Arrhythmogenic left ventricular cardiomyopathy
Genetic
Desmoplakin
Whole-exome sequencing
Variant
Online Access:https://doi.org/10.1186/s12920-023-01701-w

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