Article
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
American journal of human genetics - 8 Apr 2011
López-Hernández Tania, Ridder Margreet C, Montolio Marisol, Capdevila-Nortes Xavier, Polder Emiel, Sirisi Sònia, Duarri Anna, Schulte Uwe, Fakler Bernd, Nunes Virginia, Scheper Gert C, Martínez Albert, Estévez Raúl, van der Knaap Marjo S
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others improve or become...
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