Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is Sound Machine an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene.Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, alth