References
Kelley MJ, Jawien W, Ortel TL et al (2000) Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26(1):106–108
The May–Hegglin/Fechtner Syndrome Consortium (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nat Genet 26(1):103–105
Kunishima S, Kojima T, Matsushita T et al (2001) Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 97(15):1147–1149
Heath KE, Campos-Barros A, Toren A et al (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 69(10):1033–1045
Dong F, Li S, Pujol-Moix N et al (2005) Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol 130(3):620–627
Kunishima S, Matsushita T, Kojima T et al (2001) Identification of six novel MYH9 mutations and genotype–phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 46(10):722–729
Pecci A, Panza E, Pujol-Moix N et al (2008) Position of nonmuscle myosin IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 29(3):409–417
Kunishima S, Matsushita T, Kojima T et al (2003) Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 83(1):115–122
Author information
Authors and Affiliations
Corresponding authors
Rights and permissions
About this article
Cite this article
Hao, J., Kunishima, S., Guo, X. et al. A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts. Ann Hematol 91, 1147–1148 (2012). https://doi.org/10.1007/s00277-011-1370-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00277-011-1370-5