Journal
NEUROLOGY
Volume 61, Issue 4, Pages 534-537Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000076184.21183.CA
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Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations ( missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.
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