GNE myopathy with thrombocytopenia: a case report and review of the literature
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DOI:
https://doi.org/10.17161/rrnmf.v2i3.14996Keywords:
GNE, GNE myopathy, Genetic testing, thrombocytopenia, leukopeniaAbstract
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Saechao C, Valles-Ayoub Y, Esfandiarifard S, et al. Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. Genet Test Mol Biomarkers. 2010;14(2):157-162.
Zhen C, Guo F, Fang X, Liu Y, Wang X. A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia. Neurol Sci. 2014;35(9):1479-1481.
Mori-Yoshimura M, Hayashi YK, Yonemoto N, et al. Nationwide patient registry for GNE myopathy in Japan. Orphanet J Rare Dis. 2014;9:150.
Izumi R, Niihori T, Suzuki N, et al. GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. Neuromuscul Disord. 2014;24(12):1068-1072.
Behnam M, Jin-Hong S, Kim D-S, Basiri K, Nilipour Y, Sedghi M. A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy. J Res Med Sci. 2014;19(8):792-794.
Paul P, Liewluck T. Distal myopathy and thrombocytopenia due to a novel GNE mutation. J Neurol Sci. 2020;415:116954.
Revel-Vilk S, Shai E, Turro E, et al. GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. Blood. 2018;132(17):1851-1854.
Futterer J, Dalby A, Lowe GC, et al. Mutation in GNE is associated with severe congenital thrombocytopenia. Blood. 2018;132(17):1855-1858.
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Copyright (c) 2021 Joshua Rim, Yuebing Li
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
