Muscular Dystrophy-Dystroglycanopathy and Epilepsy
Abstract
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.
DOI: https://doi.org/10.15844/pedneurbriefs-27-1-4 | Journal eISSN: 2166-6482
Language: English
Page range: 3 - 4
Published on: Jan 1, 2013
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
Keywords:
© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.