Title: COG5-CDG with a Mild Neurohepatic Presentation
Authors: Fung, C W
Matthijs, Gert
Sturiale, L
Garozzo, D
Wong, K Y
Wong, R
Wong, V
Jaeken, Jaak # ×
Issue Date: 2012
Publisher: Springer
Series Title: JIMD Reports vol:3 pages:67-70
Article number: 10.1007/8904_2011_61
Abstract: The conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is involved in N- and O-glycosylation. Genetic defects in this complex belong to the rapidly expanding family of congenital disorders of glycosylation (CDG). Patients have been reported with defects of subunit 1 (CDG1-CDG), subunit 4 (CDG4-CDG), subunit 5 (CDG5-CDG), subunit 6 (CDG6-CDG), subunit 7 (CDG7-CDG), and subunit 8 (CDG8-CDG). This paper is on the second reported patient with COG5-CDG. She showed a mild neurohepatic disease with central as well as peripheral neurological involvement while in the first reported patient (with a different mutation) only mild central neurological involvement was reported.
ISSN: 2192-8304
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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