Article
PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
Neurologia i neurochirurgia polska - 1 Jan 2000
Mądry Jacek, Hoffman-Zacharska Dorota, Królicki Leszek, Jakuciński Maciej, Friedman Andrzej
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelination disorder of the central nervous system (CNS). PMD is caused by mutations in the PLP1 gene located at Xq22 and encoding the major myelin component in CNS, proteolipid protein 1 (PLP1). The disease is clinically heterogeneous. Phenotypes are generally categorized into classic and connatal forms. Connatal PMD has more rapid progression with early...
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