Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools

• Main Authors: Eun Lee (Author), Mi-Sun Yum (Author), Hae-Won Choi (Author), Han-Wook Yoo (Author), Su Jeong You (Author), Eun-Hye Lee (Author), Tae-Sung Ko (Author)
• Format: Book
• Published: Korean Pediatric Society, 2012-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodend...