Peripheral neuropathies caused by mutations in the myelin protein zero
β Scribed by Michael E. Shy
- Book ID
- 119301869
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 340 KB
- Volume
- 242
- Category
- Article
- ISSN
- 0022-510X
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## Mutations in the major peripheral myelin protein zero (PO) gene on chromosome lq21-q23 have been found with the hereditary demyelinating polyneuropathy Charcot-Marie-Tooth type 1B. Here, we describe 2 patients with distinct neurological characteristics, carrying different substitutions at the s
The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, P0), and the connexin 32 gene (Cx32, GJB1) code for membrane proteins expressed in Schwann cells of the peripheral nervous system (PNS). The early growth response 2 gene (EGR2) encodes a transcription factor that may c