Immunocytochemistry for the heavy chain of the non‐muscle myosin IIA as a diagnostic tool for MYH9‐related disorders

@article{Pecci2002ImmunocytochemistryFT,
  title={Immunocytochemistry for the heavy chain of the non‐muscle myosin IIA as a diagnostic tool for MYH9‐related disorders},
  author={A. Pecci and P. Noris and R. Invernizzi and A. Savoia and M. Seri and G. Ghiggeri and S. Sartore and S. Gangarossa and N. Bizzaro and C. Balduini},
  journal={British Journal of Haematology},
  year={2002},
  volume={117}
}
Summary.  May–Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal‐dominant macrothrombocytopenias with Döhle‐like leucocyte inclusions. These diseases are due to mutations of the MHY9 gene, encoding the heavy chain of non‐muscle myosin IIA (NMMHC‐A). We investigated the NMMHC‐A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations. All the patients showed an altered localization of NMMHC‐A in granulocytes and platelets… Expand
MYH9 related disease: four novel mutations of the tail domain of myosin‐9 correlating with a mild clinical phenotype
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Renal manifestations of patients with MYH9-related disorders
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