Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients

  • Authors:
    • Feifei Su
    • Jing Miao
    • Xuemei Liu
    • Xiaojing Wei
    • Xuefan Yu
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  • Published online on: June 22, 2018     https://doi.org/10.3892/etm.2018.6344
  • Pages: 1505-1512
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Abstract

Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult‑onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing. To date, >150 GNE mutations have been reported in different populations from around the world. The present study investigated the clinical, pathological and genetic characteristics of seven unrelated DMRV patients from China. Genetic analysis in these patients revealed three novel mutations (c.455_456insC, p.P421L, and p.A287T) and five previously reported mutations (p.D207V, p.C44S, p.G576R, p.A669P, and p.D218G). In addition, the literature on DMRV was reviewed to provide an overview of the disease and broaden the mutational spectrum of the GNE gene in China.
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August-2018
Volume 16 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Su F, Miao J, Liu X, Wei X and Yu X: Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. Exp Ther Med 16: 1505-1512, 2018
APA
Su, F., Miao, J., Liu, X., Wei, X., & Yu, X. (2018). Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. Experimental and Therapeutic Medicine, 16, 1505-1512. https://doi.org/10.3892/etm.2018.6344
MLA
Su, F., Miao, J., Liu, X., Wei, X., Yu, X."Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients". Experimental and Therapeutic Medicine 16.2 (2018): 1505-1512.
Chicago
Su, F., Miao, J., Liu, X., Wei, X., Yu, X."Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients". Experimental and Therapeutic Medicine 16, no. 2 (2018): 1505-1512. https://doi.org/10.3892/etm.2018.6344