Cell BiologybioRxiv
Mutations in nucleoporin NUP88 cause lethal neuromuscular disorder
E. Bonnin, P. Cabochette, A. Filosa…·B. Fahrenkrog
This study identifies biallelic NUP88 mutations as a cause of lethal fetal akinesia deformation sequence (FADS) and shows their effects on neuromuscular development in zebrafish and human cells.