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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Main Authors: Ikeda-Sakai, Yasuko, Manabe, Yasuhiro, Fujii, Daiki, Kono, Syoichiro, Narai, Hisashi, Omori, Nobuhiko, Nishino, Ichizo, Abe, Koji
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
Assuntos:
Published online: July, 2012
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3409516/
https://ncbi.nlm.nih.gov/pubmed/22855677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000341561
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