DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity
Abiola Harrison, Shiva Ganesan, Hongbo Michael Xie, Shridhar Parthasarathy, Jillian L. McKee, Jan H. Magielski, Kim Marie Thalwitzer, Rohit Lobo, Manuela Pendziwiat, Andreas van Baalen, Hiltrud Muhle, Annapurna Poduri, Alisa Mo, Gert Wiegand, Katrin Õunap, , Ingo Helbig
The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.
medRxiv · Apr 6, 2026 · PreprintGenetic & Genomic Medicine