Abstract
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.
Original language | English |
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Pages (from-to) | 534-537 |
Number of pages | 4 |
Journal | Neurology |
Volume | 61 |
Issue number | 4 |
Publication status | Published - Aug 26 2003 |
ASJC Scopus subject areas
- Neuroscience(all)