Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is 
associated with mutations or deletions in several genes including PMP22 gene. 
Here, we report a large family showing characteristic phenotypes of 
Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant 
fashion. We detected a sequence variation (c.68C>G) co-segregating with the 
disease phenotype and leading to a T23R missense mutation in PMP22.