The SMYD1 p.Asn101Ser is a partial loss-of-function variant that impairs mitochondrial function and leads to early-onset cardiomyopathy.
Marta W. Szulik, Clint Gwynn, Magnus Creed, Lina Ghaloul‐Gonzalez, Sarah Franklin
This study functionally characterizes a SMYD1 variant linked to early-onset cardiomyopathy, showing it impairs mitochondrial function and leads to disease.
bioRxiv · Jul 31, 2026 · PreprintCell Biology