Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy-Reference-Cited by-同舟云学术

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Published:2013-11 Issue:3 Volume:110 Page:345-351
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Yang Amy C.,Ng Bobby G.,Moore Steven A.,Rush Jeffrey,Waechter Charles J.,Raymond Kimiyo M.,Willer Tobias,Campbell Kevin P.,Freeze Hudson H.,Mehta Lakshmi

Funder

NIH

The Rocket Fund

Paul D. Wellstone Muscular Dystrophy Cooperative Research Center

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Congenital disorders of glycosylation;Jaeken;Ann. N. Y. Acad. Sci.,2010

2. How to find and diagnose a CDG due to defective N-glycosylation;Lefeber;J. Inherit. Metab. Dis.,2011

3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study;Mercuri;Neurology,2009

4. The ever-expanding spectrum of congenital muscular dystrophies;Mercuri;Ann. Neurol.,2012

5. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3;Maeda;EMBO J.,2000

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