Article
Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings.
Neurologia (Barcelona, Spain) - 1 Jan 2000
Pascual-Castroviejo I, van der Knaap M S, Pronk J C, García-Segura J M, Gutiérrez-Molina M, Pascual-Pascual S I
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder with a chronic progressive course. The gene, MLC1, has been localized on chromosome 22qtell and 26 different mutations have been described. We report two siblings of non-consanguineous parents who presented with characteristic features of MLC. They showed macrocephaly from the first months of life. After a short...
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