Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan.

Authors

Keren J. Carss, Wellcome Trust Genome Campus
Elizabeth Stevens, UCL Institute of Child Health, London
A. Reghan Foley, UCL Institute of Child Health, London
Sebahattin Cirak, UCL Institute of Child Health, London
Moniek Riemersma, Radboud University
Eric P. Hoffman, George Washington UniversityFollow
+31 additional authors

Document Type

Journal Article

Publication Date

6-11-2013

Journal

American Journal of Human Genetics

Volume

Volume 93, Issue 1

Inclusive Pages

29-41

APA Citation

Carss, K. J., Stevens, E., Foley, A. R., Cirak, S., Riemersma, M., Torelli, S., . . . Muntoni, F. (2013). Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics, 93(1), 29-41.

Peer Reviewed

1