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|Title:||A novel mutation of the GNE gene in distal myopathy with rimmed vacuoles: A case with inflammation|
Faculty of Medicine, Siriraj Hospital, Mahidol University
|Citation:||Case Reports in Neurology. Vol.6, No.1 (2014), 55-59|
|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.|
|Appears in Collections:||Scopus 2011-2015|
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