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Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.
Villar-Quiles, Rocío N; Gomez-Garcia de la Banda, Marta; Barois, Annie; Bouchet-Séraphin, Celine; Romero, Norma B; Rio, Marlène; Quijano-Roy, Susana; Ferreiro, Ana.
Afiliação
  • Villar-Quiles RN; Basic and Translational Myology Laboratory, Unité de Biologie Fonctionnelle et Adaptative (BFA), UMR 8251, CNRS/ Université de Paris, Paris, France.
  • Gomez-Garcia de la Banda M; Neuromuscular Disorders Unit, Pediatric Neurology and Intensive Care Department, CHU Paris IdF Ouest, Hôpital Raymond Poincaré (APHP), Garches, France.
  • Barois A; Neuromuscular Disorders Unit, Pediatric Neurology and Intensive Care Department, CHU Paris IdF Ouest, Hôpital Raymond Poincaré (APHP), Garches, France.
  • Bouchet-Séraphin C; Département de Génétique, Hôpital Bichat Claude Bernard (APHP), Paris, France.
  • Romero NB; Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
  • Rio M; Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), Institut de Myologie, Laboratoire de Pathologie Risler, GH Pitié-Salpêtrière, Paris, France.
  • Quijano-Roy S; Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants-Malades (APHP), Paris, France.
  • Ferreiro A; Neuromuscular Disorders Unit, Pediatric Neurology and Intensive Care Department, CHU Paris IdF Ouest, Hôpital Raymond Poincaré (APHP), Garches, France.
J Neuromuscul Dis ; 7(1): 69-76, 2020.
Article em En | MEDLINE | ID: mdl-31796684
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 11 / Encefalopatias / Oftalmopatias / Distrofias Musculares Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: J Neuromuscul Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 11 / Encefalopatias / Oftalmopatias / Distrofias Musculares Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: J Neuromuscul Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França