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Research Article

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

  • Anna Rajab equal contributor,

    equal contributor Contributed equally to this work with: Anna Rajab, Volker Straub

    Affiliation: Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman

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  • Volker Straub equal contributor,

    equal contributor Contributed equally to this work with: Anna Rajab, Volker Straub

    Affiliation: Institute of Human Genetics, International Center for Life, Newcastle University, Newcastle upon Tyne, United Kingdom

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  • Liza J. McCann,

    Affiliation: Department of Rheumatology, Alder Hey Children's Hospital, Liverpool, United Kingdom

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  • Dominik Seelow,

    Affiliations: Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany

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  • Raymonda Varon,

    Affiliation: Institute of Human Genetics, Charité University Medical School, Berlin, Germany

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  • Rita Barresi,

    Affiliation: Institute of Human Genetics, International Center for Life, Newcastle University, Newcastle upon Tyne, United Kingdom

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  • Anne Schulze,

    Affiliation: Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medical School, Berlin, Germany

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  • Barbara Lucke,

    Affiliations: Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany

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  • Susanne Lützkendorf,

    Affiliations: Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany

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  • Mohsen Karbasiyan,

    Affiliation: Institute of Human Genetics, Charité University Medical School, Berlin, Germany

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  • Sebastian Bachmann,

    Affiliations: Department of Anatomy, Charité University Medical School, Berlin, Germany, Core Facility for Electron Microscopy, Charité University Medical School, Berlin, Germany

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  • Simone Spuler,

    Affiliation: Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medical School, Berlin, Germany

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  • Markus Schuelke mail

    markus.schuelke@charite.de

    Affiliations: Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany

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  • Published: March 12, 2010
  • DOI: 10.1371/journal.pgen.1000874

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