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

Pubmed ID: 
23768512
Year: 
2013
Month: 
Jul
Volume: 
93
Issue: 
1
Citation: 
Carss KJ, North KN, Muntoni F. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. American Journal of Human Genetics 93 (1) : 29 - 41(2013) PubMed