DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
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 #
American Neurological Association
Annals of Neurology vol:72 issue:4 pages:550-558
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. There was clinical evidence of a muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry.