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Research Article

A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy

  • Houman Ashrafian,

    Affiliation: Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Louise Docherty,

    Affiliation: Mammalian Genetics of Disease Unit, School of Medicine, University of Sheffield, Sheffield, United Kingdom

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  • Vincenzo Leo,

    Affiliation: Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, United Kingdom

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  • Christopher Towlson,

    Affiliation: Mammalian Genetics of Disease Unit, School of Medicine, University of Sheffield, Sheffield, United Kingdom

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  • Monica Neilan,

    Affiliation: Mammalian Genetics of Disease Unit, School of Medicine, University of Sheffield, Sheffield, United Kingdom

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  • Violetta Steeples,

    Affiliation: Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Craig A. Lygate,

    Affiliation: Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Tertius Hough,

    Affiliation: Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, United Kingdom

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  • Stuart Townsend,

    Affiliation: Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, United Kingdom

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  • Debbie Williams,

    Affiliation: Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom

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  • Sara Wells,

    Affiliation: Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom

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  • Dominic Norris,

    Affiliation: Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom

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  • Sarah Glyn-Jones,

    Affiliation: Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom

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  • John Land,

    Affiliation: Neurometabolic Unit, National Hospital, London, United Kingdom

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  • Ivana Barbaric,

    Affiliation: Department of Biomedical Science, University of Sheffield, Sheffield, United Kingdom

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  • Zuzanne Lalanne,

    Affiliation: Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom

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  • Paul Denny,

    Affiliation: Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom

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  • Dorota Szumska,

    Affiliation: Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Shoumo Bhattacharya,

    Affiliation: Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Julian L. Griffin,

    Affiliation: Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom

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  • Iain Hargreaves,

    Affiliation: Neurometabolic Unit, National Hospital, London, United Kingdom

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  • Narcis Fernandez-Fuentes,

    Affiliation: Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, United Kingdom

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  • Michael Cheeseman,

    Affiliation: Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom

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  • Hugh Watkins,

    Affiliation: Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • T. Neil Dear mail

    t.n.dear@leeds.ac.uk

    Affiliations: Mammalian Genetics of Disease Unit, School of Medicine, University of Sheffield, Sheffield, United Kingdom, Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, United Kingdom, Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom

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  • Published: June 24, 2010
  • DOI: 10.1371/journal.pgen.1001000

About the Authors

Houman Ashrafian, Violetta Steeples, Craig A. Lygate, Dorota Szumska, Shoumo Bhattacharya, Hugh Watkins
Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
Louise Docherty, Christopher Towlson, Monica Neilan, T. Neil Dear
Mammalian Genetics of Disease Unit, School of Medicine, University of Sheffield, Sheffield, United Kingdom
Vincenzo Leo, Tertius Hough, Stuart Townsend, Narcis Fernandez-Fuentes, T. Neil Dear
Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, United Kingdom
Debbie Williams, Sara Wells, Dominic Norris, Zuzanne Lalanne, Paul Denny, Michael Cheeseman, T. Neil Dear
Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom
Sarah Glyn-Jones, Julian L. Griffin
Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom
John Land, Iain Hargreaves
Neurometabolic Unit, National Hospital, London, United Kingdom
Ivana Barbaric
Department of Biomedical Science, University of Sheffield, Sheffield, United Kingdom

Corresponding Author

Email: t.n.dear@leeds.ac.uk

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: HA CAL JL PD JLG IH NFF MC HW TND. Performed the experiments: HA LD VL CT MN VS CAL TH ST DW SW DN SGJ JL IB ZL DS SB IH NFF TND. Analyzed the data: HA CAL IB JLG IH MC TND. Wrote the paper: HA HW TND.