A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness

ConclusionsOur study offers novel findings indicating anRBCK1 variant in individuals of Iranian ancestry presenting with DCM leading to heart transplantation and myopathy without immunodeficiency or auto-inflammation.

Source: ESC Heart Failure - February 9, 2024 Category: Cardiology Authors: MohammadHossein MozafaryBazargany, Shiva Esmaeili, Mahshid Hesami, Golnaz Houshmand, Mohamad Mahdavi, Majid Maleki, Samira Kalayinia Tags: Original Article Source Type: research