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Lookup NU author(s): Dr Steven Laval, Emerita Professor Katherine Bushby
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Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. This paper describes the preliminary characterisation of the human dysferlin promoter. The transcriptional start site of dysferlin has been mapped using 5′ RACE PCR, which extended the length of the known 5′ UTR to 914bp. Promoter elements have been mapped by assessing the ability of fragments from this region to activate the expression of a luciferase reporter gene borne on a plasmid transfected into differentiated and undifferentiated C2C12 mouse myoblast cells. Finally, the core promoter region has been screened for mutations in suspected dysferlinopathy patients. © 2004 Nature Publishing Group. All rights reserved.
Author(s): Foxton RM, Laval SH, Bushby KMD
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2004
Volume: 12
Issue: 2
Pages: 127-131
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/sj.ejhg.5201092
DOI: 10.1038/sj.ejhg.5201092
PubMed id: 14560310
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