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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse, Clémence; Brochier, Guy; Taratuto, Ana-Lia; Cadot, Bruno; Rendu, John; Monges, Soledad; Biancalana, Valérie; Quijano-Roy, Susana; Bui, Mai Thao; Chanut, Anaïs; Madelaine, Angéline; Lacène, Emmanuelle; Beuvin, Maud; Amthor, Helge; Servais, Laurent; de Feraudy, Yvan; Erro, Marcela; Saccoliti, Maria; Neto, Osorio Abath; Fauré, Julien; Lannes, Béatrice; Laugel, Vincent; Coppens, Sandra; Lubieniecki, Fabiana; Bello, Ana Buj; Laing, Nigel; Evangelista, Teresinha; Laporte, Jocelyn; Böhm, Johann; Romero, Norma B.
Affiliation
  • Labasse C; Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord-Est-IDF, GHU Pitié-Salpêtrière, Paris, France.
  • Brochier G; Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord-Est-IDF, GHU Pitié-Salpêtrière, Paris, France.
  • Taratuto AL; Neuropathology and Neuromuscular Diseases Laboratory, Buenos Aires, Argentina.
  • Cadot B; Sorbonne Université, INSERM, Center for Research in Myology, Myology Institute, APHP, GHU Pitié-Salpêtrière, Paris, France.
  • Rendu J; Laboratoire de Biochimie Et Génétique Moléculaire, Pôle de Biologie, CHU Grenoble Alpes, Grenoble, France.
  • Monges S; Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.
  • Biancalana V; Servucio de Neurología Et Neuropatología, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
  • Quijano-Roy S; Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.
  • Bui MT; Laboratoire de Diagnostic Génétique, Faculté de Médecine, CHRU, Strasbourg, France.
  • Chanut A; APHP Université Paris-Saclay, Pediatric Neuromuscular Unit, Hôpital Universitaire Raymond-Poincaré, Université de Versailles Saint-Quentin-en-Yvelines, Garches, France.
  • Madelaine A; Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord-Est-IDF, GHU Pitié-Salpêtrière, Paris, France.
  • Lacène E; Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord-Est-IDF, GHU Pitié-Salpêtrière, Paris, France.
  • Beuvin M; Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord-Est-IDF, GHU Pitié-Salpêtrière, Paris, France.
  • Amthor H; Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord-Est-IDF, GHU Pitié-Salpêtrière, Paris, France.
  • Servais L; Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord-Est-IDF, GHU Pitié-Salpêtrière, Paris, France.
  • de Feraudy Y; Sorbonne Université, INSERM, Center for Research in Myology, Myology Institute, APHP, GHU Pitié-Salpêtrière, Paris, France.
  • Erro M; APHP Université Paris-Saclay, Pediatric Neuromuscular Unit, Hôpital Universitaire Raymond-Poincaré, Université de Versailles Saint-Quentin-en-Yvelines, Garches, France.
  • Saccoliti M; Centre de Références Des Maladies Neuromusculaires, Department of Paediatrics, University Hospital Liège & University of Liège, Liège, Belgium.
  • Neto OA; Department of Paediatrics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.
  • Fauré J; Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.
  • Lannes B; Department of Neuropediatrics, Strasbourg University Hospital, Strasbourg, France.
  • Laugel V; Gutierrez Pediatric Hospital, Buenos Aires, Argentina.
  • Coppens S; Neuropathology and Neuromuscular Diseases Laboratory, Buenos Aires, Argentina.
  • Lubieniecki F; Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.
  • Bello AB; Laboratoire de Biochimie Et Génétique Moléculaire, Pôle de Biologie, CHU Grenoble Alpes, Grenoble, France.
  • Laing N; Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.
  • Evangelista T; Department of Pathology, Strasbourg University Hospital, Strasbourg, France.
  • Laporte J; Department of Neuropediatrics, Strasbourg University Hospital, Strasbourg, France.
  • Böhm J; Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.
  • Romero NB; Servucio de Neurología Et Neuropatología, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
Acta Neuropathol Commun ; 10(1): 101, 2022 07 09.
Article in En | MEDLINE | ID: mdl-35810298
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline Type of study: Prognostic_studies Limits: Child / Female / Humans / Pregnancy Language: En Journal: Acta Neuropathol Commun Year: 2022 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline Type of study: Prognostic_studies Limits: Child / Female / Humans / Pregnancy Language: En Journal: Acta Neuropathol Commun Year: 2022 Document type: Article Affiliation country: