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

      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

      Professor Hanns Lochmuller
      Professor of Experimental Myology

      Professor Volker Straub
      Harold Macmillan Professor of Medicine