McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. Issue 7 (3rd June 2015)

• Record Type: Journal Article
• Authors: Nogales‐Gadea, Gisela; Brull, Astrid; Santalla, Alfredo; Andreu, Antoni L.; Arenas, Joaquin; Martín, Miguel A.; Lucia, Alejandro; de Luna, Noemi; Pinós, Tomàs
• Is Part Of: Human mutation. Volume 36:Issue 7(2015:Jul.)
• Page Start: 669
• Page End: 678
• Publication Date: 2015-06-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22806
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22806-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>McArdle disease is an autosomal‐recessive disorder caused by mutations in the <italic>PYGM</italic> gene. In this review, we have updated all the mutations described in <italic>PYGM</italic>, defined mutational hot‐spots and frequencies in different populations for the most common mutation c.148C&gt;T (also known as p.R50X). We have reviewed diagnostic methods and give advice for an easy, rapid and better genetic diagnosis of McArdle disease. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj11pwmzg5" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>