GNE myopathy with thrombocytopenia: a case report and review of the literature

none

Authors

  • Joshua Rim MD Cleveland Clinic
  • Yuebing Li MD PhD Cleveland Clinic

DOI:

https://doi.org/10.17161/rrnmf.v2i3.14996

Keywords:

GNE, GNE myopathy, Genetic testing, thrombocytopenia, leukopenia

Abstract

None

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References

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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Published

2021-08-03

Issue

Section

Clinic and Case Reports

How to Cite

Rim, J., & Li, Y. (2021). GNE myopathy with thrombocytopenia: a case report and review of the literature: none. RRNMF Neuromuscular Journal, 2(3), 52-54. https://doi.org/10.17161/rrnmf.v2i3.14996