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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Main Authors: Sima, Anders A. F., Pierson, Christopher R., Woltjer, Randall L., Hobson, Grace M., Golden, Jeffrey A., Kupsky, William J., Schauer, Galen M., Bird, Thomas D., Skoff, Robert P., Garbern, James Y.
格式: Artigo
語言:Inglês
出版: 2009
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在線閱讀: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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