Which genes are associated with autosomal dominant Charcot-Marie-Tooth?
The genes associated with the X-linked and the autosomal dominant forms of Charcot-Marie-Tooth disease are GJB1, MPZ, INF2, DNM2, YARS, GNB4, NEFL, MFN2, LRSAM1, GDAP1, PMP22, LITAF, and EGR2. Identification of these genes has not only been important for patients and families, but also provided new information about disease pathogenesis.