Peripheral nerve myelin protein 22

Peripheral nerve myelin protein 22 (PMP22) is clinically significant in several genetic peripheral neuropathies. In Charcot-Marie-Tooth disease, the PMP22 gene is duplicated; in hereditary neuropathy with sensitivity to pressure palsies (HBPP), the gene is omitted.

In hereditary motor and sensory neuropathy type 1a (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease.