A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.
MohammadHossein MozafaryBazarganyShiva EsmaeiliMahshid HesamiGolnaz HoushmandMohamad MahdaviMajid MalekiSamira KalayiniaPublished in: ESC heart failure (2024)
Our study offers novel findings indicating an RBCK1 variant in individuals of Iranian ancestry presenting with DCM leading to heart transplantation and myopathy without immunodeficiency or auto-inflammation.
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