Article
Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.
Neuroscience letters - 3 Aug 2016
Laukka Jeremy J, Kamholz John, Bessert Denise, Skoff Robert P
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is an X-linked inherited hypomyelinating disorder caused by mutations in the gene encoding proteolipid protein (PLP), the major structural protein in central nervous system (CNS) myelin. Prior to our study, whether hypomyelination in PMD was caused by demyelination, abnormally thin sheaths or failure to form myelin was unknown. In this study, we compared the microscopic...
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