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,...

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Bibliographic Details
Main Authors: Bjelica Bogdan, Rakočević Stojanović Vidosava
Format: Article
Language:English
Published: University of Belgrade, Medical Faculty 2025-01-01
Series:Medicinski Podmladak
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Online Access:https://scindeks-clanci.ceon.rs/data/pdf/0369-1527/2025/0369-15272502022B.pdf
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