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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

✍ Scribed by Lopez-Hernandez, T.; Sirisi, S.; Capdevila-Nortes, X.; Montolio, M.; Fernandez-Duenas, V.; Scheper, G. C.; van der Knaap, M. S.; Casquero, P.; Ciruela, F.; Ferrer, I.; Nunes, V.; Estevez, R.


Book ID
118000880
Publisher
Oxford University Press
Year
2011
Tongue
English
Weight
476 KB
Volume
20
Category
Article
ISSN
0964-6906

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## Communicated by Christopher Mathew Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is caused by m

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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