Hereditary neuropathies caused by mutations in the gene encoding peripheral myelin protein 22
Mutations in the gene encoding peripheral myelin protein 22 (PMP22) can manifest as Charcot-Marie-Tooth neuropathy 1A (CMT1A), in case of duplication, or hereditary neuropathy with liability to pressure palsies (HNPP), in case of deletion. In rare cases, point mutations in the PMP22 gene can occur,...
में बचाया:
| मुख्य लेखकों: | , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
University of Belgrade, Medical Faculty
2025-01-01
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| श्रृंखला: | Medicinski Podmladak |
| विषय: | |
| ऑनलाइन पहुंच: | https://scindeks-clanci.ceon.rs/data/pdf/0369-1527/2025/0369-15272502022B.pdf |
| टैग: |
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