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Details on Person DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Class:IdLiteratureReference:4719379
_displayNameDPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
_timestamp2013-10-18 14:43:56
author[Person:4719376] Barone, Rita
[Person:4719389] Aiello, Chiara
[Person:111415] Race, V
[Person:4420027] Morava, Eva
[Person:4719390] Foulquier, Francois
[Person:4719392] Riemersma, Moniek
[Person:4719381] Passarelli, Chiara
[Person:4719373] Concolino, Daniela
[Person:4719371] Carella, Massimo
[Person:449921] Santorelli, F
[Person:4719372] Vleugels, Wendy
[Person:4719396] Mercuri, Eugenio
[Person:4719384] Garozzo, Domenico
[Person:4719391] Sturiale, Luisa
[Person:4719387] Messina, Sonia
[Person:3781852] Jaeken, Jaak
[Person:4719397] Fiumara, Agata
[Person:200270] Wevers, RA
[Person:4719385] Bertini, Enrico
[Person:3781855] Matthijs, Gert
[Person:4419880] Lefeber, Dirk J
created[InstanceEdit:4719380] Jassal, B, 2013-10-18
journalAnn. Neurol.
pages550-8
pubMedIdentifier23109149
titleDPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
volume72
year2012
(literatureReference)[FailedReaction:4719375] Defective DPM2 does not transfer mannose to DOLP to form DOLPman [Homo sapiens]
[Pathway:4719377] Defective DPM2 causes DPM2-CDG [Homo sapiens]
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No pathways have been reviewed or authored by DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy (4719379)