Peripheral myelin protein 22: Facts and hypotheses
- 1 February 1995
- journal article
- review article
- Published by Wiley in Journal of Neuroscience Research
- Vol. 40 (2), 145-151
- https://doi.org/10.1002/jnr.490400202
Abstract
Mutations affecting the peripheral myelin protein 22 (PMP22) gene are associated with inherited motor and sensory neuropathies in mouse (Trembler and Trembler‐J) and human (Charcot‐Marie‐Tooth disease type 1A and Dejerine‐Sottas syndrome). Although genetic studies have established a critical role of PMP22 in the formation and/or maintenance of myelin in the peripheral nervous system, the biological function of PMP22 in myelin and in non‐myelin forming cells remains largely enigmatic. In this Mini Review, we will summarize the current knowledge about PMP22 and discuss its hypothetical function(s) in a broad context.Keywords
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