A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

• Daniela Rossi,

  Roles Investigation, Writing – original draft, Writing – review & editing

  Affiliation Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy

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• Johanna Palmio ,

  Contributed equally to this work with: Johanna Palmio, Anni Evilä

  Roles Investigation

  Affiliation Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland

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• Anni Evilä ,

  Contributed equally to this work with: Johanna Palmio, Anni Evilä

  Roles Investigation

  Affiliation Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland

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• Lucia Galli,

  Roles Investigation

  Affiliation Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy

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• Virginia Barone,

  Roles Investigation

  Affiliation Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy

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• Tracy A. Caldwell,

  Roles Investigation

  Affiliation Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America

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• Rachel A. Policke,

  Roles Investigation

  Affiliation Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America

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• Esraa Aldkheil,

  Roles Investigation

  Affiliation Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America

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• Christopher E. Berndsen,

  Roles Investigation

  Affiliation Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America

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• Nathan T. Wright,

  Roles Resources, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America

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• Edoardo Malfatti,

  Roles Investigation

  Affiliation Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France

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• Guy Brochier,

  Roles Investigation

  Affiliation Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France

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• Enrico Pierantozzi,

  Roles Investigation

  Affiliation Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy

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• Albena Jordanova,

  Roles Investigation

  Affiliations Molecular Neurogenomics Group, University of Antwerp, Antwerp, Belgium, Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria

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• Velina Guergueltcheva,

  Roles Investigation

  Affiliation Department of Neurology, Medical university of Sofia, Sofia, Bulgaria

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• Norma Beatriz Romero,

  Roles Investigation, Supervision

  Affiliation Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France

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• Peter Hackman,

  Roles Investigation, Supervision

  Affiliation Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland

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• Bruno Eymard,

  Roles Investigation, Supervision

  Affiliation Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France

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• Bjarne Udd,

  Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing

  Affiliations Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland, Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland, Department of Neurology, Vaasa Central Hospital, Vaasa, Finland

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•  [ ... ],
• Vincenzo Sorrentino

  Roles Conceptualization, Funding acquisition, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: vincenzo.sorrentino@unisi.it

  Affiliation Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy

  http://orcid.org/0000-0002-8573-8631

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