Article
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
American journal of human genetics - 1 Apr 2001
Leegwater P A, Yuan B Q, van der Steen J, Mulders J, Könst A A, Boor P K, Mejaski-Bosnjak V, van der Maarel S M, Frants R R, Oudejans C B, Schutgens R B, Pronk J C, van der Knaap M S
Abstract excerpt
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-matter abnormalities and the invariable presence of subcortical cysts. MLC was recently localized on chromosome...
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