Article
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Annals of neurology - 1 Oct 2012
Barone Rita, Aiello Chiara, Race Valérie, Morava Eva, Foulquier Francois, Riemersma Moniek, Passarelli Chiara, Concolino Daniela, Carella Massimo, Santorelli Filippo, Vleugels Wendy, Mercuri Eugenio, Garozzo Domenico, Sturiale Luisa, Messina Sonia, Jaeken Jaak, Fiumara Agata, Wevers Ron A, Bertini Enrico, Matthijs Gert, Lefeber Dirk J
Abstract excerpt
OBJECTIVE: Congenital disorders of glycosylation (CDG) are a group of metabolic diseases due to defects in protein and lipid glycosylation. We searched for the primary defect in 3 children from 2 families with a severe neurological phenotype, including profound developmental delay, intractable epilepsy, progressive microcephaly, severe hypotonia with elevated blood creatine kinase levels, and early fatal outcome....
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