The DES-p.A120P mutation associated with biventricular arrhythmogenic cardiomyopathy has a dominant-negative effect on desmin filament assembly
Alexander Lütkemeyer, Sabrina Voß, Jonas Reckmann, Joline Groß, Anna Gärtner, Jan Fritz Gummert, Hendrik Milting, Andreas Brodehl
The paper functionally characterizes the DES-p.A120P mutation in desmin, showing it disrupts filament assembly even when co-expressed with wild-type desmin, supporting its classification as a pathogenic variant.
bioRxiv · Jan 14, 2026 · PreprintGenetics