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 |
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| _version_ | 1850263792364027904 |
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| author | J Gordon Millichap |
| author_facet | J Gordon Millichap |
| author_sort | J Gordon Millichap |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-8294411ffc7f4d8dad0045f7de6a3c64 |
| institution | OA Journals |
| issn | 1043-3155 2166-6482 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Pediatric Neurology Briefs Publishers |
| record_format | Article |
| series | Pediatric Neurology Briefs |
| spelling | doaj-art-8294411ffc7f4d8dad0045f7de6a3c642025-08-20T01:54:53ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822013-01-012713410.15844/pedneurbriefs-27-1-4448Muscular Dystrophy-Dystroglycanopathy and EpilepsyJ Gordon Millichap0Northwestern University Feinberg School of MedicineInvestigators 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.https://www.pediatricneurologybriefs.com/articles/462genetic glycosylationhypotoniaearly mortality |
| spellingShingle | J Gordon Millichap Muscular Dystrophy-Dystroglycanopathy and Epilepsy Pediatric Neurology Briefs genetic glycosylation hypotonia early mortality |
| title | Muscular Dystrophy-Dystroglycanopathy and Epilepsy |
| title_full | Muscular Dystrophy-Dystroglycanopathy and Epilepsy |
| title_fullStr | Muscular Dystrophy-Dystroglycanopathy and Epilepsy |
| title_full_unstemmed | Muscular Dystrophy-Dystroglycanopathy and Epilepsy |
| title_short | Muscular Dystrophy-Dystroglycanopathy and Epilepsy |
| title_sort | muscular dystrophy dystroglycanopathy and epilepsy |
| topic | genetic glycosylation hypotonia early mortality |
| url | https://www.pediatricneurologybriefs.com/articles/462 |
| work_keys_str_mv | AT jgordonmillichap musculardystrophydystroglycanopathyandepilepsy |