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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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
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Article
Acceso en línea: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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