Neuromuscular Disorders
Volume 20, Issue 3 , Pages 178-187 , March 2010

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

  • Luis Vernengo

      Affiliations

    • Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Av. Gral. Flores 2125, Montevideo CP 11800, Uruguay
    • These authors contributed equally to this work.
    • ,
  • Oussama Chourbagi

      Affiliations

    • Univ. Paris Diderot-Paris 7, Unit of Functional and Adaptive Biology (BFA) Affiliated with CNRS, Laboratory of Stress and Pathologies of the Cytoskeleton, Bâtiment Buffon, 4e étage, 4, rue Marie-Andrée Lagroua Weill-Hallé, 75 205 Paris Cedex 13, France
    • These authors contributed equally to this work.
    • ,
  • Ana Panuncio

      Affiliations

    • Electron Microscopy Unit, Pathology Department, Hospital de Clínicas, University of the Republic. Av. Italia s/n, Montevideo CP 11200, Uruguay
    • ,
  • Alain Lilienbaum

      Affiliations

    • Univ. Paris Diderot-Paris 7, Unit of Functional and Adaptive Biology (BFA) Affiliated with CNRS, Laboratory of Stress and Pathologies of the Cytoskeleton, Bâtiment Buffon, 4e étage, 4, rue Marie-Andrée Lagroua Weill-Hallé, 75 205 Paris Cedex 13, France
    • Corresponding Author InformationCorresponding authors.
    • ,
  • Sabrina Batonnet-Pichon

      Affiliations

    • Univ. Paris Diderot-Paris 7, Unit of Functional and Adaptive Biology (BFA) Affiliated with CNRS, Laboratory of Stress and Pathologies of the Cytoskeleton, Bâtiment Buffon, 4e étage, 4, rue Marie-Andrée Lagroua Weill-Hallé, 75 205 Paris Cedex 13, France
    • ,
  • Francine Bruston

      Affiliations

    • Univ. Paris Diderot-Paris 7, Unit of Functional and Adaptive Biology (BFA) Affiliated with CNRS, Laboratory of Stress and Pathologies of the Cytoskeleton, Bâtiment Buffon, 4e étage, 4, rue Marie-Andrée Lagroua Weill-Hallé, 75 205 Paris Cedex 13, France
    • ,
  • Fernando Rodrigues-Lima

      Affiliations

    • Univ. Paris Diderot-Paris 7, Unit of Functional and Adaptive Biology (BFA) Affiliated with CNRS, Laboratory of Molecular and Cellular Responses to Xenobiotics, Bâtiment Buffon, 3e étage, 4, rue Marie-Andrée Lagroua Weill-Hallé, 75 205 Paris Cedex 13, France
    • ,
  • Rosario Mesa

      Affiliations

    • Laboratory of Neuromuscular Pathology, Hospital de Clínicas, University of the Republic, Av. Italia s/n, CP 11200 Montevideo, Uruguay
    • ,
  • Carlos Pizzarossa

      Affiliations

    • Laboratory of Neuromuscular Pathology, Hospital de Clínicas, University of the Republic, Av. Italia s/n, CP 11200 Montevideo, Uruguay
    • ,
  • Laurence Demay

      Affiliations

    • AP-HP, Groupe Hospitalier Pitié-Salpêtrière, UF Cardiogénétique et myogénétique, Service de Biochimie Métabolique, INSERM, UMR_956, 75 013 Paris, France
    • ,
  • Pascale Richard

      Affiliations

    • AP-HP, Groupe Hospitalier Pitié-Salpêtrière, UF Cardiogénétique et myogénétique, Service de Biochimie Métabolique, INSERM, UMR_956, 75 013 Paris, France
    • ,
  • Patrick Vicart

      Affiliations

    • Univ. Paris Diderot-Paris 7, Unit of Functional and Adaptive Biology (BFA) Affiliated with CNRS, Laboratory of Stress and Pathologies of the Cytoskeleton, Bâtiment Buffon, 4e étage, 4, rue Marie-Andrée Lagroua Weill-Hallé, 75 205 Paris Cedex 13, France
    • ,
  • Maria-Mirta Rodriguez

      Affiliations

    • Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Av. Gral. Flores 2125, Montevideo CP 11800, Uruguay
    • Corresponding Author InformationCorresponding authors.

Received 27 October 2009 ,Revised 17 December 2009 ,Accepted 5 January 2010.

References 

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PII: S0960-8966(10)00002-7

doi: 10.1016/j.nmd.2010.01.001

Neuromuscular Disorders
Volume 20, Issue 3 , Pages 178-187 , March 2010

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