Article
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Human mutation - 1 Jun 2006
Ilja Boor P K, de Groot Koen, Mejaski-Bosnjak Vlatka, Brenner Christiana, van der Knaap Marjo S, Scheper Gert C, Pronk Jan C
Abstract excerpt
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 mutations in the gene MLC1, which encodes a novel protein, MLC1. Since the first report, 50 mutations in this gene have been found. Mutations occur...
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