Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression

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...

Full description

Bibliographic Details
Main Authors: Yasuko Ikeda-Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Koji Abe
Format: Article
Language:English
Published: Karger Publishers 2012-07-01
Series:Case Reports in Neurology
Subjects:
Distal myopathy with rimmed vacuoles
UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase
Sialic acid
Online Access:http://www.karger.com/Article/FullText/341561

Internet

http://www.karger.com/Article/FullText/341561

Similar Items