Review
Open access
Aug 2026
Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family
Findings indicate that individuals homozygous for the PPA2 c.380G > T, p.(Arg127Leu) variant may remain asymptomatic into adulthood, particularly in the setting of alcohol exposure.
K. Heliö, Aurelia Ahokas, Sonja Sulkava et al.
· Orphanet Journal of Rare Dis... · 0 citations