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Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

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Nebulin—a giant sarcomeric protein—plays a pivotal role in skeletal muscle contractility by specifying thin filament length and function. Although mutations in the gene encoding nebulin (NEB) are a frequent cause of nemaline myopathy, the most common non-dystrophic congenital myopathy, the mechanism...

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Main Authors: Ottenheijm, Coen Adri Charles (Author) , Buck, Danielle (Author) , de Winter, Josine M. (Author) , Ferrara, Claudia (Author) , Piroddi, Nicoletta (Author) , Tesi, Chiara (Author) , Jasper, Jeffrey R. (Author) , Malik, Fady I. (Author) , Meng, Hui (Author) , Stienen, Ger J. M. (Author) , Beggs, Alan H. (Author) , Labeit, Siegfried (Author) , Poggesi, Corrado (Author) , Lawlor, Michael W. (Author) , Granzier, Henk (Author)
Format: Article (Journal)
Language:English
Published: 28 May 2013
In: Brain
Year: 2013, Volume: 136, Issue: 6, Pages: 1718-1731
ISSN:1460-2156
DOI:10.1093/brain/awt113
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awt113
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Author Notes:Coen A. C. Ottenheijm, Danielle Buck, Josine M. de Winter, Claudia Ferrara, Nicoletta Piroddi, Chiara Tesi, Jeffrey R. Jasper, Fady I. Malik, Hui Meng, Ger J. M. Stienen, Alan H. Beggs, Siegfried Labeit, Corrado Poggesi, Michael W. Lawlor and Henk Granzier
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Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy by Ottenheijm, Coen Adri Charles (Author) , Buck, Danielle (Author) , de Winter, Josine M. (Author) , Ferrara, Claudia (Author) , Piroddi, Nicoletta (Author) , Tesi, Chiara (Author) , Jasper, Jeffrey R. (Author) , Malik, Fady I. (Author) , Meng, Hui (Author) , Stienen, Ger J. M. (Author) , Beggs, Alan H. (Author) , Labeit, Siegfried (Author) , Poggesi, Corrado (Author) , Lawlor, Michael W. (Author) , Granzier, Henk (Author) ,


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