Article
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
Human genetics - 1 Mar 2002
Leegwater P A J, Boor P K I, Yuan B Q, van der Steen J, Visser A, Könst A A M, Oudejans C B M, Schutgens R B H, Pronk J C, van der Knaap M S
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and the presence of subcortical cysts in the anterior-temporal region and often also in the frontoparietal...
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