CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G.
Wilson MP, et al.
Hum Mol Genet. 2022 Aug 17;31(15):2571-2581. doi: 10.1093/hmg/ddac055.
Hum Mol Genet. 2022.
PMID: 35262690
Free PMC article.
The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found. ...This is the first repor …
The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnorma …