Article
Pelizaeus-Merzbacher disease as a chromosomal disorder.
Congenital anomalies - 1 Mar 2013
Yamamoto Toshiyuki, Shimojima Keiko
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a congenital hypomyelination disorder caused by alterations affecting the proteolipid protein 1 gene (PLP1) located on Xq22.2. Generally, patients with PLP1 missense mutations show the most severe form of PMD (connatal form); however, two-thirds of patients with PMD carry PLP1 duplications and present typical manifestations of the disorder, recognized as the classical form....
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