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A brief history of Pelizaeus–Merzbacher disease and proteolipid protein

✍ Scribed by Arnulf H. Koeppen

Book ID
119301561
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
82 KB
Volume
228
Category
Article
ISSN
0022-510X

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Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
✍ Ken Inoue; Hitoshi Osaka; Kiyoshi Imaizumi; Atsuo Nezu; Jun-Ichi Takanashi; Junk 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 848 KB

Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations involving the proteolipid protein gene (PLP). In addition to point and frameshift mutations in the coding region, duplications involving the entire PLP h