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-Reference-Cited by-同舟云学术

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

Published:2020-01-22 Issue:1 Volume:7 Page:69-76
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Villar-Quiles Rocío N.¹,Gomez-Garcia de la Banda Marta²,Barois Annie²,Bouchet-Séraphin Celine³,Romero Norma B.⁴⁵,Rio Marlène⁶,Quijano-Roy Susana²⁷,Ferreiro Ana¹⁴

Affiliation:

1. Basic and Translational Myology Laboratory, Unité de Biologie Fonctionnelle et Adaptative (BFA), UMR 8251, CNRS/ Université de Paris, Paris, France

2. Neuromuscular Disorders Unit, Pediatric Neurology and Intensive Care Department, CHU Paris IdF Ouest, Hôpital Raymond Poincaré (APHP), Garches, France

3. Département de Génétique, Hôpital Bichat Claude Bernard (APHP), Paris, France

4. Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), Institut de Myologie, GH Pitié-Salpêtrière, Paris, France

5. Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), Institut de Myologie, Laboratoire de Pathologie Risler, GH Pitié-Salpêtrière, Paris, France

6. Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants-Malades (APHP), Paris, France

7. Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM, Garches, France

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

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