Deficiencies in the protein O-mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGNT1), a glycosyltransferase involved in the elongation of classic O-mannosyl glycans, are mainly associated with muscle-eye-brain disease (MEB), a genetically heterogeneous congenital muscular dystrophy with brain and ...
ORGANISM(S): Homo sapiens (Human)