A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation

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 t...

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Autores principales: Tanboon, Jantima, Rongsa, Kanjana, Pithukpakorn, Manop, Boonyapisit, Kanokwan, Limwongse, Chanin, Sangruchi, Tumtip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: March, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975748/
https://www.ncbi.nlm.nih.gov/pubmed/24707269
http://dx.doi.org/10.1159/000360730
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author Tanboon, Jantima
Rongsa, Kanjana
Pithukpakorn, Manop
Boonyapisit, Kanokwan
Limwongse, Chanin
Sangruchi, Tumtip
author_facet Tanboon, Jantima
Rongsa, Kanjana
Pithukpakorn, Manop
Boonyapisit, Kanokwan
Limwongse, Chanin
Sangruchi, Tumtip
author_sort Tanboon, Jantima
collection PubMed
description 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.
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spelling pubmed-39757482014-04-04 A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation Tanboon, Jantima Rongsa, Kanjana Pithukpakorn, Manop Boonyapisit, Kanokwan Limwongse, Chanin Sangruchi, Tumtip Case Rep Neurol Published online: March, 2014 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. S. Karger AG 2014-03-08 /pmc/articles/PMC3975748/ /pubmed/24707269 http://dx.doi.org/10.1159/000360730 Text en Copyright © 2014 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) (www.karger.com/OA-license), applicable to the online version of the article only. Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.
spellingShingle Published online: March, 2014
Tanboon, Jantima
Rongsa, Kanjana
Pithukpakorn, Manop
Boonyapisit, Kanokwan
Limwongse, Chanin
Sangruchi, Tumtip
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
title A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
title_full A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
title_fullStr A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
title_full_unstemmed A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
title_short A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
title_sort novel mutation of the gne gene in distal myopathy with rimmed vacuoles: a case with inflammation
topic Published online: March, 2014
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975748/
https://www.ncbi.nlm.nih.gov/pubmed/24707269
http://dx.doi.org/10.1159/000360730
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