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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Principais autores:	Bjelica Bogdan, Rakočević Stojanović Vidosava
Formato:	Artigo
Idioma:	Inglês
Publicado:	University of Belgrade, Medical Faculty 2025-01-01
Series:	Medicinski Podmladak
Assuntos:	hereditary neuropathy pmp22 charcot-marie-tooth neuropathy 1a hereditary neuropathy with liability to pressure palsies
Acceso en liña:	https://scindeks-clanci.ceon.rs/data/pdf/0369-1527/2025/0369-15272502022B.pdf
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