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Article

Clinical and Genetic Heterogeneity in Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)

1 Aug 2003

Abstract excerpt

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) was recently localized on chromosome 22q (tel) and 26 different mutations of the gene MLC1 have been found. We report three siblings of non-consanguineous parents who presented with characteristic features of MLC, but did not have MLC1 mutations. MEYHODS: Clinical, laboratory and neuro-imaging findings of the siblings are described and...

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PMID: 12973664
DOI: 10.1055/s-2003-42210

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