Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy
K. Fujise, M. Okubo, T. Abe, H. Yamada, K. Takei, I. Nishino, T. Takeda, S. Noguchi
The paper evaluates the pathogenicity of novel DNM2 variants associated with centronuclear myopathy using an in cellulo imaging assay of T-tubule-like structures.
bioRxiv · Mar 1, 2021Cell Biology