Genetic & Genomic MedicinemedRxivPreprint
De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy
Liana N. Semcesen, Lucie S Taylor, Leah E. Frajman…·Alison G. Compton
The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.
DOI 10.64898/2026.01.08.26343555