Case report
Open access
Jan 2026
Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA‐Level Validation of a Homozygous CTNNA3 Splice‐Site Variant
Evidence is provided that biallelic CTNNA3 splice‐disrupting variants can cause human cardiomyopathy driven by ICD dysfunction, and the dissociation between ventricular recovery and persistent arrhythmia highlights the complex phenotypic spectrum of CTNNA3‐related disease.
Stefania Martino, Mara Doimo, M. Iacoviello et al.
· Human Mutation · 0 citations