Stephanie E Wallace Jessie H Conta Thomas L Winder Tobias Willer Jamie M Eskuri Richard Haas Kathleen Patterson Kevin P Campbell Steven A Moore Sidney M Gospe Jr
10.1016/j.nmd.2014.01.001
Neuromuscul Disord
2014 Apr;24(4):312-20.
congenital muscular dystrophy dystroglycanopathy limb girdle muscular dystrophy pomt1 protein o-mannosylation walker–warburg syndrome
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24491487/
Mannosyltransferases / genetics Muscular Dystrophies / genetics Mutation, Missense Phenotype
Mannosyltransferases / genetics Muscular Dystrophies / genetics Mutation, Missense Phenotype Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Brain / pathology Cells, Cultured Child DNA Mutational Analysis Female Fibroblasts / metabolism Humans Magnetic Resonance Imaging Male Mannosyltransferases / metabolism Muscle, Skeletal / pathology Muscular Dystrophies / pathology Muscular Dystrophies / physiopathology Severity of Illness Index Siblings Young Adult Mannosyltransferases protein O-mannosyltransferase
PMC3959257
24491487
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
2014