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http://dx.doi.org/10.5352/JLS.2014.24.3.311

Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing  

Seo, Seong Don (Department of Neurology, Kyungpook National University School of Medicine)
Park, Hyung Jun (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Song, Hyun Seok (Department of Neurology, Kyungpook National University School of Medicine)
Kim, Hye Jin (Department of Biological Science, Kongju National University)
Park, Jin-Mo (Department of Neurology, School of Medicine, Ewha Womans University)
Hong, Young Bin (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Chung, Ki Wha (Department of Biological Science, Kongju National University)
Choi, Byung-Ok (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Journal of Life Science / v.24, no.3, 2014 , pp. 311-317 More about this Journal
Abstract
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy 2 is an autosomal recessive muscular disorder characterized by early adult-onset weakness of distal muscles and rimmed vacuoles in muscle biopsy. Mutations in the UDP-N-acetylglucosamine 2-epimerase/N-ace-tylmannosamine kinase (GNE) gene are associated with the development of DMRV. In this study, whole exome sequencing (WES) revealed compound heterozygous GNE mutations of p.Asp176Val and p.Val572Leu in a patient with distal limb weakness. Three hundred healthy controls did not show these mutations. All other variants found in distal myopathy-relevant genes were polymorphic. These findings confirmed that the patient had DMRV. This work underscores the usefulness of WES in improving the molecular diagnosis of myopathy.
Keywords
Distal myopathy with rimmed vacuoles (DMRV); molecular diagnosis; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE); whole exome sequencing (WES);
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