KEGG   VARIANT: 8818v1
Entry
8818v1                      Variant                                
Name
DPM2 deficiency
Type
Loss of function
Gene
DPM2  dolichyl-phosphate mannosyltransferase subunit 2, regulatory [KO:K09658]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603564
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:23109149
  Authors
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ
  Title
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
  Journal
Ann Neurol 72:550-8 (2012)
DOI:10.1002/ana.23632
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