Muscular Dystrophy-Dystroglycanopathy and Epilepsy

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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Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2013-01-01
Series:Pediatric Neurology Briefs
Subjects:
genetic glycosylation
hypotonia
early mortality
Online Access:https://www.pediatricneurologybriefs.com/articles/462
Description
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.
ISSN:1043-3155
2166-6482

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