Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression
We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients co...
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2012-07-01
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| Series: | Case Reports in Neurology |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/341561 |
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| author | Yasuko Ikeda-Sakai Yasuhiro Manabe Daiki Fujii Syoichiro Kono Hisashi Narai Nobuhiko Omori Ichizo Nishino Koji Abe |
| author_facet | Yasuko Ikeda-Sakai Yasuhiro Manabe Daiki Fujii Syoichiro Kono Hisashi Narai Nobuhiko Omori Ichizo Nishino Koji Abe |
| author_sort | Yasuko Ikeda-Sakai |
| collection | DOAJ |
| description | We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals become wheelchair bound on average 12 years after onset of the disease. The clinical spectrum of DMRV seems to be wider than previously thought in terms of both the clinical course and the severity of the disease. |
| first_indexed | 2024-12-12T19:54:08Z |
| format | Article |
| id | doaj.art-9f64012ebcc548e79f617bc83d659c3f |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-12-12T19:54:08Z |
| publishDate | 2012-07-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-9f64012ebcc548e79f617bc83d659c3f2022-12-22T00:13:56ZengKarger PublishersCase Reports in Neurology1662-680X2012-07-014212012510.1159/000341561341561Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow ProgressionYasuko Ikeda-SakaiYasuhiro ManabeDaiki FujiiSyoichiro KonoHisashi NaraiNobuhiko OmoriIchizo NishinoKoji AbeWe report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals become wheelchair bound on average 12 years after onset of the disease. The clinical spectrum of DMRV seems to be wider than previously thought in terms of both the clinical course and the severity of the disease.http://www.karger.com/Article/FullText/341561Distal myopathy with rimmed vacuolesUDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinaseSialic acid |
| spellingShingle | Yasuko Ikeda-Sakai Yasuhiro Manabe Daiki Fujii Syoichiro Kono Hisashi Narai Nobuhiko Omori Ichizo Nishino Koji Abe Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression Case Reports in Neurology Distal myopathy with rimmed vacuoles UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase Sialic acid |
| title | Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression |
| title_full | Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression |
| title_fullStr | Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression |
| title_full_unstemmed | Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression |
| title_short | Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression |
| title_sort | novel mutations of the gne gene in distal myopathy with rimmed vacuoles presenting with very slow progression |
| topic | Distal myopathy with rimmed vacuoles UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase Sialic acid |
| url | http://www.karger.com/Article/FullText/341561 |
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