Disease: Congenital disorder of glycosylation type 1C
- Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
- Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population
- Journey into muscular dystrophies caused by abnormal glycosylation
- Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage
- Protein glycosylation in disease: new insights into the congenital muscular dystrophies
- Subcellular localization of fukutin and fukutin-related protein in muscle cells