1.Name of the Disease (Synonyms):
Deficiency of UDP-GlcNAc:Dol-P-GlcNAc-P transferase 1, deficiency of Dol-P:GlcNAc-P transferase 1, deficiency of GlcNAc-1-P transferase 1 congenital myasthenic syndrome with tubular aggregates 2, CMSTA2, DPAGT1-CDG, CDG-Ij
2. OMIM# of the Disease:
608093
614750
3. Name of the Analysed Genes or DNA/Chromosome Segments:
DPAGT1
4. OMIM# of the Gene(s):
191350
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in DPAGT1 gene in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
- Jaak Jaeken
- Dirk Lefeber
- Gert Matthijs
