Article
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Neurology - 26 Aug 2003
Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli F M, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E
Abstract excerpt
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...
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