Western blot analyses of fibroblast-derived lysates showed that DYNC2LI1 is markedly reduced in R01-013A (c.993+1G>A; p.Leu117Val) and R07-628A (p.Trp124Ter; p.Leu117Val), indicating that these mutations likely lead to loss of DYNC2LI1 stability (Fig. 2b,c).