Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor functions with ataxia, and spasticity, eventuating in mental decline. The brain appears swollen on magnetic resonance imaging, with diffuse white-...

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Bibliografiske detaljer
Main Authors: Leegwater, Peter A. J., Yuan, Bao Qiang, van der Steen, Jeffrey, Mulders, Joyce, Könst, Andrea A. M., Boor, P. K. Ilja, Mejaski-Bosnjak, Vlatka, van der Maarel, Silvère M., Frants, Rune R., Oudejans, Cees B. M., Schutgens, Ruud B. H., Pronk, Jan C., van der Knaap, Marjo S.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2001
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1275636/
https://ncbi.nlm.nih.gov/pubmed/11254442
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