KEGG   VARIANT: 5236v1
Entry
5236v1                      Variant                                
Name
PGM1 deficiency
Type
Loss of function
Gene
PGM1  phosphoglucomutase 1 [KO:K01835]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 171900
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
  Authors
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T
  Title
Multiple phenotypes in phosphoglucomutase 1 deficiency.
  Journal
N Engl J Med 370:533-42 (2014)
DOI:10.1056/NEJMoa1206605
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