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Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
Böhm, Johann; Malfatti, Edoardo; Oates, Emily; Jones, Kristi; Brochier, Guy; Boland, Anne; Deleuze, Jean-François; Romero, Norma Beatriz; Laporte, Jocelyn.
  • Böhm J; Departement of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France.
  • Malfatti E; Morphological Unit, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France.
  • Oates E; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Jones K; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Brochier G; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
  • Boland A; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Deleuze JF; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • Romero NB; Morphological Unit, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France.
  • Laporte J; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de biologie François Jacob, CEA, Évry, France.
J Med Genet ; 56(9): 617-621, 2019 09.
Article en En | MEDLINE | ID: mdl-30327447
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artrogriposis / Proteínas Portadoras / Debilidad Muscular / Fracturas Óseas / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Infant Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artrogriposis / Proteínas Portadoras / Debilidad Muscular / Fracturas Óseas / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Infant Idioma: En Año: 2019 Tipo del documento: Article