Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement-Reference-Cited by-同舟云学术

Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement

Published:2018-05-14 Issue:2 Volume:58 Page:224-234
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Dabaj Ivana¹,Carlier Robert Y²,Gómez‐Andrés David³^ORCID,Neto Osório Abath⁴,Bertini Enrico⁵,D'amico Adele⁵,Fattori Fabiana⁵,PéRéon Yann²⁶,Castiglioni Claudia⁷,Rodillo Eliana⁷,Catteruccia Michela⁵,Guimarães júlio Brandão⁸,Oliveira Acary Souza Bulle⁹,Reed Umbertina Conti¹⁰,Mesrob Lilia¹¹,Lechner Doris¹¹,Boland Anne¹¹,Deleuze Jean‐François¹¹,Malfatti Edoardo²¹²,Bonnemann Carsten⁴,Laporte Jocelyn¹³,Romero Norma²¹²,Felter Adrien²,Quijano‐Roy Susana¹,Moreno Cristiane Araújo Martins¹⁰,Zanoteli Edmar¹⁰

Affiliation:

1. APHP, Service de Pediatrie, Pôle Neuro‐locomoteur, Hôpital Universitaire Raymond Poincaré‐Garches, Centre de Reference de Maladies Neuromusculaires Centre de référence des maladies neuromusculaires Nord/Est/Ile de France

2. APHP, Service d'Imagerie Médicale, Pôle Neuro‐locomoteur, Hôpital Universitaire Raymond Poincaré‐Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay France

3. Child Neurology Unit, Hospital Universitari Vall d'Hebron, ERN‐RND / ERN‐NMD. Vall d'Hebron Institut de Recerca, Barcelona, SpainBarcelona Spain

4. Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIHBethesda Maryland USA

5. Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's HospitalRome Italy

6. Centre de reference de maladies neuromusculaires Nantes‐Angers, Hôtel‐Dieu, CHU Nantes France

7. Department of Pediatric, Neurology UnitClínica Las CondesSantiago Chile

8. Department of RadiologyDASA LaboratorySão Paulo Brazil

9. Departamento de NeurologiaUniversidade Federal de São Paulo (UNIFESP)São Paulo Brazil

10. Departamento de NeurologiaFaculdade de Medicina da Universidade de São Paulo (FMUSP)São Paulo Brazil

11. Centre National de Génotypage, Institut de Génomique, CEAEvry France

12. Laboratoire de Pathologie musculaire, Institut de MyologieParis France

13. Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104University of StrasbourgIllkirch France

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.26137

Reference28 articles.

1. The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product

2. Hereditary myosin myopathies

3. Myosinopathies: pathology and mechanisms

4. Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

5. Autosomal dominant eccentric core disease caused by a heterozygous mutation in theMYH7gene

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