{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:37:08Z","timestamp":1791275828435,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,10,29]],"date-time":"2012-10-29T00:00:00Z","timestamp":1351468800000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective:<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a group of metabolic diseases due to defects in protein and lipid glycosylation. We searched for the primary defect in 3 children from 2 families with a severe neurological phenotype, including profound developmental delay, intractable epilepsy, progressive microcephaly, severe hypotonia with elevated blood creatine kinase levels, and early fatal outcome. There was clinical evidence of a muscular dystrophy\u2013dystroglycanopathy syndrome, supported by deficient O\u2010mannosylation by muscle immunohistochemistry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Biochemical and molecular methods were combined to pinpoint the defect in the glycosylation pathway in the endoplasmic reticulum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Metabolic investigations revealed CDG\u2010I, pointing to a defect in protein N\u2010glycosylation in the endoplasmic reticulum. Analysis of lipid\u2010linked oligosaccharides in fibroblasts showed accumulation of Dol\u2010PP\u2010GlcNAc<jats:sub>2<\/jats:sub>\u2010Man<jats:sub>5<\/jats:sub>. DNA analysis revealed mutations in <jats:italic>DPM2<\/jats:italic>, 1 of the subunits of the dolichol\u2010phosphate\u2010mannose (DPM) synthase; the patient in the first family is compound heterozygous for 2 mutations (c.68A&gt;G, predicting a missense mutation p.Y23C and c.4\u20101G&gt;C, a splice mutation), whereas the patients in the second family are homozygous for the same missense mutation (c.68A&gt;G, p.Y23C).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation:<\/jats:title><jats:p>We describe a new CDG, due to a deficiency of DPM2. Hence, mutations have now been described in the genes for the 3 subunits of DPM: <jats:italic>DPM1<\/jats:italic>, <jats:italic>DPM2<\/jats:italic>, and <jats:italic>DPM3<\/jats:italic>, whereby DPM2\u2010CDG links the congenital disorders of glycosylation to the congenital muscular dystrophies. ANN NEUROL 2012;72:550\u2013558<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.23632","type":"journal-article","created":{"date-parts":[[2012,4,24]],"date-time":"2012-04-24T23:31:11Z","timestamp":1335310271000},"page":"550-558","source":"Crossref","is-referenced-by-count":136,"title":["DPM2\u2010CDG: A muscular dystrophy\u2013dystroglycanopathy syndrome with severe 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