Dataset Information
Uk10k_rare_neuromuscular_rel_2012_01_13-sc-20120611 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000180 | EGA |
REPOSITORIES: EGA
Publications
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
American journal of human genetics 20130613 1
Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG have been identified thus far. Allelic mutations in these genes might also cause milder limb-girdle muscular dystrophy phenotypes. Using a combination of exome and Sanger sequencing in eight unrelated individuals, we pr ...[more]