DPM2

Publications

Barone R et al. DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012;72(4):550–558. PMID: 23109149.

Maeda Y & Kinoshita, T. Dolichol-phosphate mannose synthase: Structure, function and regulation. Biochimica et Biophysica Acta. 2008;1780(6)861–868. PMID: 18387370.

Radenkovic S et al. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. Mol Genet Metab. 2021;132(1):27–37. PMID: 33129689.