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289 Beneficial effect of creatine therapy in a case of vacuolating megalencephalic leukoencephalopathy with subcortical cysts

✍ Scribed by V. Mejaški-Bošnjak; F. Hanefeld; J. Frahm; B/ Wilken; K. Fumić


Book ID
114361143
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
286 KB
Volume
3
Category
Article
ISSN
1090-3798

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Vacuolating megalencephalic leukoencepha
✍ Giorgia Montagna; Oscar Teijido; Eleonore Eymard-Pierre; Koutarou Muraki; Bruce 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 344 KB

Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.A