Mutation Update for GNE Gene Variants Associated with GNE Myopathy. Issue 8 (August 2014)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Human mutation. Volume 35:Issue 8(2014:Aug.)
• Page Start: 915
• Page End: 926
• Publication Date: 2014-08
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22583
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22583-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>This is a comprehensive report of GNE gene mutations associated with GNE myopathy. All Reported human GNE variants are scattered all throughout the coding regions of the gene. Based on allele frequencies, the worldwide prevalence of GNE myopathy is estimated to be higher (∼4‐21/1, 000, 000) than previously thought <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pght8nc6pn" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>