PMP22, or Peripheral Myelin Protein 22, is a protein that is primarily expressed in the compact myelin of the peripheral nervous system. It plays a crucial role in the formation and maintenance of the myelin sheath, which insulates nerve fibers and allows for efficient transmission of nerve impulse. Abnormalities in the PMP22 gene are responsible for a group of inherited peripheral neuropathies, including Charcot-Marie-Tooth disease type 1A (CMT1A), Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and CMT1E. PMP22-related neuropathies are the most prevalent among the inherited neuropathies, and understanding their clinical presentations and genetic testing is essential for neurologists and geneticists dealing with inherited neuropathy patients.
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