Thrombocytopenia and GNE myopathy: a not so fortuitous association

GNE myopathy (GNEM) is a late-onset distal myopathy possibly related to sialic acid deficiency. Clinicians in China report the observation of a patient with GNEM in whom a significant decrease in blood platelets was noted:

  • the 29 year old patient had a muscle deficit that had been evolving for three years;
  • the distribution of the deficit and the presence of bordered vacuoles on the muscle biopsy strongly suggested the diagnosis of GNEM;
  • the diagnosis was confirmed by molecular biology due to the presence of two composite pathological variants of the GNE gene;

The authors point out that other cases associating thrombocytopenia and GNEM have already been reported in the literature and hypothesise a non-random association.


Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review. Xu Z, Xiang J, Luan X, Geng Z et al. Clin Case Rep. 2022 (Avr).10(4):e05659.