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...
Na minha lista:
| Autor principal: | |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pediatric Neurology Briefs Publishers
2013-01-01
|
| Colecção: | Pediatric Neurology Briefs |
| Assuntos: | |
| Acesso em linha: | https://www.pediatricneurologybriefs.com/articles/462 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|