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: | Book |
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Pediatric Neurology Briefs Publishers,
2013-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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, intractable epilepsy with onset at 1 week to 5 months, and early mortality. |
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| Item Description: | 1043-3155 2166-6482 10.15844/pedneurbriefs-27-1-4 |