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Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Svahn, J; Laforêt, P; Vial, C; Streichenberger, N; Romero, N; Bouchet-Séraphin, C; Bruneel, A; Dupré, T; Seta, N; Menassa, R; Michel-Calemard, L; Stojkovic, T.
Afiliação
  • Svahn J; Electroneuromyography and Neuromuscular Department, Hospices Civils de Lyon, Lyon, France. Electronic address: juliette.svahn@chu-lyon.fr.
  • Laforêt P; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Service de Neurologie, Hôpital Raymond-Poincaré, Garches, AP-HP/ INSERM U1179, END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
  • Vial C; Electroneuromyography and Neuromuscular Department, Hospices Civils de Lyon, Lyon, France.
  • Streichenberger N; Department of Neuropathology, Hospices Civils de Lyon, Lyon, France.
  • Romero N; Myology Institute, Neuromuscular Morphology Unit, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Sorbonne Universités UPMC Univ Paris 06, Paris, France.
  • Bouchet-Séraphin C; APHP, Bichat Hospital, Biochemistry, Paris, France.
  • Bruneel A; APHP, Bichat Hospital, Biochemistry, Paris, France.
  • Dupré T; APHP, Bichat Hospital, Biochemistry, Paris, France.
  • Seta N; APHP, Bichat Hospital, Biochemistry, Paris, France.
  • Menassa R; Department of Molecular Endocrinology and Rare Diseases, Hospices Civils de Lyon, Lyon, France.
  • Michel-Calemard L; Department of Molecular Endocrinology and Rare Diseases, Hospices Civils de Lyon, Lyon, France.
  • Stojkovic T; Myology Institute, Neuromuscular Pathology Reference Center, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Sorbonne Universités UPMC Univ Paris 06, Paris, France.
Neuromuscul Disord ; 29(7): 497-502, 2019 07.
Article em En | MEDLINE | ID: mdl-31266720
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Distrofia Muscular do Cíngulo dos Membros / Manosiltransferases / Proteínas de Membrana Limite: Adult / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Distrofia Muscular do Cíngulo dos Membros / Manosiltransferases / Proteínas de Membrana Limite: Adult / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article