Pelizaeus-Merzbacher Disease, Easily Misdiagnosed as Cerebral Palsy: A Report of a Three-generation Family

• Main Authors: Yen-Chun Chen (Author), Wen-Chen Liang (Author), Yi-Ning Su (Author), Yuh-Jyh Jong (Author)
• פורמט: ספר
• יצא לאור: Elsevier, 2014-04-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder affecting myelination of the central nervous system, and is caused by mutations of the proteolipid protein 1 (PLP1) gene. Clinical manifestations of PMD are variable and major features include progressive nystagmus, spasticity, tre...