The first such report was the identification of a missense mutation changing histidine 306 to arginine (H306R) in the Dync1h1 gene, leading to an inheritable autosomal dominant form of Charcot-Marie-Tooth disease (CMT) found in 23 members of an extended four-generation family3. This evidence concerns the gene DYNC1H1 and Charcot-Marie-Tooth disease.