Since the first report of a mutation in DYNC1H1 was described in 2010 in relation to autosomal dominant SMALED1 [9], numerous articles have reported DYNC1H1 mutations in neurologic diseases [10, 11] such as axonal Charcot-Marie-Tooth disease type 2O (CMT2O, OMIM 614,228), malformation of cortical development (MCD, OMIM 614,563), and autosomal dominant mental retardation 13 (MRD13, OMIM 614,563). This evidence concerns the gene DYNC1H1 and Autosomal dominant Charcot-Marie-Tooth disease type 2O.