Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

Author:

Moore Ursula1,Fernandez‐Torron Roberto12,Jacobs Marni34ORCID,Gordish‐Dressman Heather34,Diaz‐Manera Jordi56ORCID,James Meredith K.1ORCID,Mayhew Anna G.1,Harris Elizabeth1,Guglieri Michela1,Rufibach Laura E.7,Feng Jia3,Blamire Andrew M.8,Carlier Pierre G.9,Spuler Simone10,Day John W.11,Jones Kristi J.12,Bharucha‐Goebel Diana X.1314,Salort‐Campana Emmanuelle15,Pestronk Alan16,Walter Maggie C.17,Paradas Carmen18,Stojkovic Tanya19,Mori‐Yoshimura Madoka20,Bravver Elena21,Pegoraro Elena22,Lowes Linda Pax23,Mendell Jerry R.23,Bushby Kate1,Bourke John24,Straub Volker1ORCID,

Affiliation:

1. The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK

2. Neurology Department Biodonostia Health Research Institute, Neuromuscular Area, Hospital Donostia, Basque Health Service Donostia‐San Sebastian Spain

3. Center for Translational Science, Division of Biostatistics and Study Methodology Children's National Health System Washington District of Columbia USA

4. Pediatrics, Epidemiology and Biostatistics George Washington University Washington District of Columbia USA

5. Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) Barcelona Spain

6. Neuromuscular Disorders Unit, Neurology Department Hospital de la Santa Creu i Sant Pau Barcelona Spain

7. The Jain Foundation Seattle Washington USA

8. Translational and Clinical Research Institute, Newcastle University Newcastle upon Tyne UK

9. University Paris‐Saclay, CEA, DRF, Service Hospitalier Frederic Joliot Orsay France

10. Charite Muscle Research Unit, Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine Berlin Germany

11. Department of Neurology and Neurological Sciences Stanford University School of Medicine Stanford California USA

12. The Children's Hospital at Westmead, and The University of Sydney Westmead New South Wales Australia

13. Department of Neurology Children's National Health System Washington District of Columbia USA

14. National Institutes of Health (NINDS) Bethesda Maryland USA

15. Service des maladies neuromusculaire et de la SLA, Hôpital de La Timone Marseille France

16. Department of Neurology Washington University School of Medicine St. Louis Missouri USA

17. Friedrich‐Baur‐Institute, Department of Neurology Ludwig‐Maximilians‐University of Munich Munich Germany

18. Neuromuscular Unit, Department of Neurology Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla Seville Spain

19. Centre de référence des maladies neuromusculaires, Institut de Myologie, AP‐HP, Sorbonne Université, Hôpital Pitié‐Salpêtrière Paris France

20. Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry Tokyo Japan

21. Neuroscience Institute, Carolinas Neuromuscular/ALS‐MDA Center, Carolinas HealthCare System Charlotte North Carolina USA

22. Department of Neuroscience University of Padova Padua Italy

23. The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USA

24. Department of Cardiology Freeman Hospital, NUTH NHS Hospitals Foundation Trust Newcastle upon Tyne UK

Publisher

Wiley

Subject

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

Reference35 articles.

1. Human Protein Atlas Dysferlin RNA and protein expression 2020.The Human Protein Atlas Web site https://www.proteinatlas.org/ENSG00000135636-DYSF/tissue.

2. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

3. Dysfunction of dysferlin-deficient hearts

4. Respiratory and cardiac function in japanese patients with dysferlinopathy

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