Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies. Issue 12 (December 2014)

• Record Type: Journal Article
• Authors: Lehtokari, Vilma‐Lotta; Kiiski, Kirsi; Sandaradura, Sarah A.; Laporte, Jocelyn; Repo, Pauliina; Frey, Jennifer A.; Donner, Kati; Marttila, Minttu; Saunders, Carol; Barth, Peter G.; den Dunnen, Johan T.; Beggs, Alan H.; Clarke, Nigel F.; North, Kathryn N.; Laing, Nigel G.; Romero, Norma B.; Winder, Thomas L.; Pelin, Katarina; Wallgren‐Pettersson, Carina
• Is Part Of: Human mutation. Volume 35:Issue 12(2014:Dec.)
• Page Start: 1418
• Page End: 1426
• Publication Date: 2014-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22693
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22693-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Variants in the nebulin gene are the most common cause of autosomal recessive nemaline myopathy, but the clinical and histological spectrum is a continuum ranging from severe to mild forms of congenital myopathies. The spectrum of pathogenic variants range from point mutations to large deletions and duplications covering large parts of the gene. Amino acid changes are very common in nebulin, but only few of them are disease‐causing. Detailed genotype‐phenotype correlations are difficult to discern. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cpxhw96" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>