Review
Open access
Jul 2026
Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis
An Iranian family exhibiting severe HCM due to a likely pathogenic DES gene variant is examined, resulting in severe hypertrophic cardiomyopathy (HCM) without skeletal phenotypes, lacking skeletal myopathy phenotypes.
Saeideh Kavousi, Farzad Kamali, B. Rabbani et al.
· Clinical Case Reports · 0 citations