Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.

To the Editor : Charcot–Marie–Tooth type 1 (CMT1), the most frequent hereditary peripheral neuropathy, is characterized by marked clinical and genetic heterogeneity (1). Mutations in genes coding for peripheral myelin protein 22 (PMP22 ; MIM 601097), myelin protein zero (MPZ/P0 ; MIM 159440) and connexin 32 or gap junction beta 1 (Cx32/GJB1 ; MIM 304040) cause CMT1A, CMT1B and CMTX, the most common types of CMT1 (1). The objective of this study was to estimate the frequencies of the 1.5-Mb CMT1A duplication and of mutations in GJB1 and MPZ, in Greek CMT1 patients.