Newcastle University

Publication:

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene (2011)

Author(s): Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmuller H, Bushby K, Straub V

• Date: 01-10-2011
• Journal: European Journal of Human Genetics
• Volume: 19
• Issue: 10
• Pages: 1038-1044
• Publisher: Nature Publishing Group
• Publication type: Article
• Bibliographic status: Published

• URL: http://dx.doi.org/10.1038/ejhg.2011.84
• DOI: 10.1038/ejhg.2011.84
• ISSN (electronic): 1476-5438

Keywords: FHL1 myopathy founder mutation British REDUCING BODY MYOPATHY LIM DOMAIN SCAPULOPERONEAL MYOPATHY MUSCULAR-DYSTROPHY PROTEIN-1 IDENTIFICATION CYTOSKELETON CYSTEINE ISOFORM NUCLEUS

Staff

Professor Katherine Bushby Act. Res.Chair of Neuromuscular Genetics	Email: kate.bushby@ncl.ac.uk Telephone: +44 (0) 191 241 8757
Professor Hanns Lochmuller Professor of Experimental Myology	Email: hanns.lochmuller@ncl.ac.uk Telephone: +44 (0) 191 241 8602
Professor Volker Straub Harold Macmillan Professor of Medicine	Email: volker.straub@ncl.ac.uk Telephone: +44 (0) 191 241 8762