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Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients withGLIALCAMmutations

✍ Scribed by Arnedo, Tanit; Aiello, Chiara; Jeworutzki, Elena; Dentici, Maria Lisa; Uziel, Graziella; Simonati, Alessandro; Pusch, Michael; Bertini, Enrico; Estévez, Raúl


Book ID
121606872
Publisher
Springer
Year
2013
Tongue
English
Weight
435 KB
Volume
15
Category
Article
ISSN
1364-6745

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✍ 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