Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.

We studied a female patient who presented with autosomal recessive or sporadic Charcot-Marie-Tooth disease type 1 (CMT1). We found that she had a 1.5-megabase deletion in chromosome 17p11.2-p12 containing the peripheral myelin protein 22 gene (PMP22) and an Arg157Gly mutation of PMP22. Hemizygous mutation of PMP22 should be considered in patients with autosomal recessive CMT1 or with severe hereditary neuropathy with liability to pressure palsy.