Muscular Dystrophy-Dystroglycanopathy and Epilepsy

• Egile nagusia: J Gordon Millichap (Egilea)
• Formatua: Liburua
• Argitaratua: Pediatric Neurology Briefs Publishers, 2013-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...