Bibliographic Details
| Title: |
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression |
| Authors: |
Yasuko Ikeda-Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Koji Abe |
| Source: |
Case Reports in Neurology, Vol 4, Iss 2, Pp 120-125 (2012) |
| Publisher Information: |
Karger Publishers, 2012. |
| Publication Year: |
2012 |
| Collection: |
LCC:Neurology. Diseases of the nervous system |
| Subject Terms: |
Distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase, Sialic acid, Neurology. Diseases of the nervous system, RC346-429 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1662-680X |
| Relation: |
http://www.karger.com/Article/FullText/341561; https://doaj.org/toc/1662-680X |
| DOI: |
10.1159/000341561 |
| Access URL: |
https://doaj.org/article/9f64012ebcc548e79f617bc83d659c3f |
| Accession Number: |
edsdoj.9f64012ebcc548e79f617bc83d659c3f |
| Database: |
Directory of Open Access Journals |
