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
Unit of Molecular Medicine and Division of Pediatric Neurology, Bambino Gesù Children's Hospital, Rome, Italy.
Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca.
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.
