Publication: A novel mutation of the GNE gene in distal myopathy with rimmed vacuoles: A case with inflammation
Issued Date
2014-01-01
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1662680X
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2-s2.0-84900482850
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Mahidol University
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SCOPUS
Bibliographic Citation
Case Reports in Neurology. Vol.6, No.1 (2014), 55-59
Suggested Citation
Jantima Tanboon, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi A novel mutation of the GNE gene in distal myopathy with rimmed vacuoles: A case with inflammation. Case Reports in Neurology. Vol.6, No.1 (2014), 55-59. doi:10.1159/000360730 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/34512
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Title
A novel mutation of the GNE gene in distal myopathy with rimmed vacuoles: A case with inflammation
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Abstract
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. Characteristic pathologic features of DMRV are rimmed vacuoles on muscle biopsy and tubulofilamentous inclusion in ultrastructural study. Presence of inflammation in DMRV is unusual. We report a sporadic case of DMRV in a 40-year-old Thai man who presented with slowly progressive distal muscle weakness. Gene analysis revealed a compound heterozygous mutation of the GNE gene including a novel mutation c.1057A>G (p.K353E) and a known mutation c.2086G>A (p.V696M). The latter is the most common mutation in Thai DMRV patients. The muscle pathology was compatible with DMRV except for focal inflammation. © 2014 S. Karger AG, Basel.