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Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1
Mutations affecting proteolipid protein 1 (PLP1), the major protein in central nervous system myelin, cause the X-linked leukodystrophy Pelizaeus–Merzbacher disease (PMD). We describe the neuropathologic findings in a series of eight male PMD subjects with confirmed PLP1 mutations, including duplica...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3876935/ https://ncbi.nlm.nih.gov/pubmed/19562355 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-009-0562-8 |
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