Title: DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
Authors: 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 #
Issue Date: Oct-2012
Publisher: American Neurological Association
Series Title: Annals of Neurology vol:72 issue:4 pages:550-558
Article number: 10.1002/ana.23632
Abstract: 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.
ISSN: 0364-5134
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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