𝔖 Bobbio Scriptorium
✦   LIBER   ✦

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease – case report

✍ Scribed by Mądry, Jacek; Hoffman-Zacharska, Dorota; Królicki, Leszek; Jakuciński, Maciej; Friedman, Andrzej


Book ID
123308139
Publisher
Termedia Publishing House
Year
2010
Tongue
Polish
Weight
757 KB
Volume
44
Category
Article
ISSN
0028-3843

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Prenatal diagnosis by FISH in a family w
✍ Karen Woodward; Rodger Palmer; Kathleen Rao; Sue Malcolm 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 2 views

A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for dupl

Classic Pelizaeus-Merzbacher disease in
✍ Eppie M. Yiu; Sandra A. Farrell; Teesta Soman 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 349 KB

The majority of motor parasomnias and almost all nocturnal seizures occur out of NREM sleep. 1,2 The only well-defined disorders that are exclusively REM related are REM sleep behavior disorder (RBD) 3 and painful nocturnal erections. Catathrenia is a disorder that arises mostly but not exclusively