The first documented evidence of IT associated with a molecular alteration in an enzyme involved in glycosylation occurred in 2014; Izumi et al. reported two siblings with myopathy, rimmed vacuoles, and inherited thrombocytopenia harboring two compound heterozygous GNE mutations, p.Val603Leu and p.Gly739Ser, in accordance with autosomal recessive inheritance of the disease. Here, GNE is linked to Thrombocytopenia.