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Article

DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.

American journal of medical genetics. Part A - 1 Aug 2012

Carrera Ignacio Arroyo, Matthijs Gert, Perez Belen, Cerdá Celia Pérez

Abstract excerpt

Congenital disorders of glycosylation (CDG) are due to either defects in the synthesis of the glycan moiety of glycoproteins or glycolipids and in the attachment of the glycans to proteins and lipids. Some 50 CDG have been identified. They represent a challenge for clinicians because most are multisystem diseases with a heterogeneous spectrum of clinical manifestations with involvement of any organ and system. We...

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Source

Identifiers

PMID: 22786653
DOI: 10.1002/ajmg.a.35472

Genes

DPAGT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.PMID 22786653Read ↗

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.Semantic proximity Read ↗

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.Semantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in SpainSemantic proximity Read ↗

Congenital disorders of glycosylation with neonatal presentation.Semantic proximity Read ↗

A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.Semantic proximity Read ↗

Congenital myasthenic syndrome caused by mutations in DPAGT.Semantic proximity Read ↗

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.Semantic proximity Read ↗

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.Semantic proximity Read ↗

Perinatal and early infantile symptoms in congenital disorders of glycosylation.Semantic proximity Read ↗

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.Semantic proximity Read ↗

Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy.Semantic proximity Read ↗

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