TPM3deletions cause a hypercontractile congenital muscle stiffness phenotype

Author:

Donkervoort Sandra1,Papadaki Maria2,de Winter Josine M.3,Neu Matthew B.1,Kirschner Janbernd4,Bolduc Véronique1,Yang Michele L.5,Gibbons Melissa A.6,Hu Ying1,Dastgir Jahannaz1,Leach Meganne E.17,Rutkowski Anne8,Foley A. Reghan1,Krüger Marcus9,Wartchow Eric P.10,McNamara Elyshia11,Ong Royston11,Nowak Kristen J.11,Laing Nigel G.11,Clarke Nigel F.12,Ottenheijm Coen A. C.3,Marston Steven B.2,Bönnemann Carsten G.1

Affiliation:

1. Neuromuscular and Neurogenetic Disorders of Childhood Section; National Institutes of Health; Bethesda MD

2. National Heart and Lung Institute; Imperial College London; London United Kingdom

3. Department of Physiology; VU University Medical Center; Amsterdam the Netherlands

4. Department of Neuropediatrics and Muscle Disorders; University Medical Center Freiburg; Freiburg Germany

5. Section of Child Neurology, Department of Pediatrics and Neurology; University of Colorado School of Medicine; Aurora CO

6. University of Colorado Denver School of Medicine; Aurora CO

7. Children's National Health System; Washington DC

8. Cure CMD; Kaiser Southern California Permanente Medical Group; Olathe KS

9. Department of General Pediatrics, Adolescent Medicine, and Neonatology; University Medical Center Freiburg; Freiburg Germany

10. Department of Pathology; Children's Hospital Colorado; Aurora CO

11. Neuromuscular Diseases Laboratory, Centre for Medical Research, Faculty of Medicine, Dentistry, and Health Sciences; University of Western Australia; Crawley Western Australia Australia; and Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Perth, Western Australia, Australia

12. Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead; University of Sydney; Sydney New South Wales Australia

Funder

Australian National Health and Medical Research Council

Australian Research Council

British Heart Foundation

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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