Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination – hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hy...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Termedia Publishing House
2016-03-01
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| coleção: | Folia Neuropathologica |
| Assuntos: | |
| Acesso em linha: | https://www.termedia.pl/Pelizaeus-Merzbacher-disease-in-patients-with-molecularly-confirmed-diagnosis,20,27231,1,1.html |
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