A wide range of phenotypes have been reported in autosomal recessive (AR) 
Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the 
ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as 
axonal, demyelinating, and intermediate forms of AR CMT. There have been very 
few reports of GDAP1 mutations in autosomal dominant (AD) CMT. Here, we report 
an AD CMT family with a novel Q218E mutation in the GDAP1 gene. The mutation was 
located within the well-conserved glutathione S-transferase (GST) core region 
and co-segregated with the affected members in the pedigree. The affected AD CMT 
individuals had a later disease onset and much milder phenotypes than the AR CMT 
patients, and the histopathologic examination revealed both axonal degeneration 
and demyelination.