Muscular Dystrophy-Dystroglycanopathy and Epilepsy
Investigators from the University of Catania, and other centers in Europe have identified a novel genetic glycosylation disorder, DPM2-CDG (part of the DPM synthase complex) in 3 infants with severe hypotonia, progressive muscle weakness and wasting, elevated CK, absent psychomotor development, intr...
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| Format: | Article |
| Language: | English |
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Pediatric Neurology Briefs Publishers
2013-01-01
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| Series: | Pediatric Neurology Briefs |
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| Online Access: | https://www.pediatricneurologybriefs.com/articles/462 |