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Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation.

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant