GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

TO THE EDITOR: We have identified 9 affected individuals from 3 unrelated families with macrothrombocytopenia and mild to moderate bleeding diathesis inherited due to missense mutations in the glucosamine (UDP- N -acetyl)-2-epimerase/ N -acetylmannosamine kinase ( GNE ) gene. Previous reports have