DYNC1H1 and Charcot-Marie-Tooth disease type 2: A single amino acid change of histidine at amino acid 306 into arginine (H306R) of the Dync1h1 gene resulted in an autosomal dominant form of CMT2 that included phenotypes such as pes cavus, abnormal gait, lower limb weakness and wasting, learning difficulties, and reduced sensory reception10.