Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes

Autor: van der Knaap, M.S., Lai, V., Kohler, W., Salih, M.A., Fonseca, M.J., Benke, T.A., Wilson, C., Jayakar, P., Aine, M.R., Dom, L., Lynch, B., Kalmanchey, R., Pietsch, P., Errami, A., Scheper, G.C.

Publikováno v: Annals of Neurology, 67(6), 834-837. John Wiley and Sons Inc.
van der Knaap, M S, Lai, V, Kohler, W, Salih, M A, Fonseca, M J, Benke, T A, Wilson, C, Jayakar, P, Aine, M R, Dom, L, Lynch, B, Kalmanchey, R, Pietsch, P, Errami, A & Scheper, G C 2010, ' Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes ', Annals of Neurology, vol. 67, no. 6, pp. 834-837 . https://doi.org/10.1002/ana.21980

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal

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https://research.vu.nl/en/publications/b9832012-b976-4d98-9220-06e809fd2487