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KMID : 0613820140240030311
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Journal of Life Science
2014 Volume.24 No. 3 p.311 ~ p.317
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Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing
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Seo Seong-Don
Park Hyung-Jun
Song Hyun-Seok
Kim Hye-Jin
Park Jin-Mo
Hong Young-Bin
Chung Ki-Wha
Choi Byung-Ok
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Abstract
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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.
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KEYWORD
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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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