Article
Mutation update for GNE gene variants associated with GNE myopathy.
Human mutation - 1 Aug 2014
Celeste Frank V, Vilboux Thierry, Ciccone Carla, de Dios John Karl, Malicdan May Christine V, Leoyklang Petcharat, McKew John C, Gahl William A, Carrillo-Carrasco Nuria, Huizing Marjan
Abstract excerpt
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not absent, GNE enzyme activities. The exact pathomechanism of...
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