In the remaining 109 patients with CMT1, the disease-causing mutation was identified in 22 with the following distribution: 6 mutations in SH3TC2, 5 mutations in GJB1, 4 in MPZ, 2 in PRX, 2 point mutations in PMP22, 1 in GDAP1, 1 in HK and 1 in NEFL. Twenty-six index patients with PMP22 deletions showed manifestations compatible with HNPP, and 10 index patients with PMP22 missense mutations and small deletions showed phenotypes ranging from CMT1E (2 index patients) to HNPP (2 index patients) and DSS (6 index patients). This evidence concerns the gene GJB1 and hereditary neuropathy with liability to pressure palsies.