Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1
✍ Scribed by Anders A. F. Sima; Christopher R. Pierson; Randall L. Woltjer; Grace M. Hobson; Jeffrey A. Golden; William J. Kupsky; Galen M. Schauer; Thomas D. Bird; Robert P. Skoff; James Y. Garbern
- Book ID
- 106073832
- Publisher
- Springer-Verlag
- Year
- 2009
- Tongue
- English
- Weight
- 406 KB
- Volume
- 118
- Category
- Article
- ISSN
- 0001-6322
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W e studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41+T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show n