Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

Author:

Lamont Phillipa J.12,Wallefeld William2,Hilton-Jones David3,Udd Bjarne456,Argov Zohar7,Barboi Alexandru C.8,Bonneman Carsten9,Boycott Kym M.10,Bushby Kate11,Connolly Anne M.12,Davies Nicholas13,Beggs Alan H.14,Cox Gerald F.14,Dastgir Jahannaz9,DeChene Elizabeth T.15,Gooding Rebecca2,Jungbluth Heinz161718,Muelas Nuria1920,Palmio Johanna4,Penttilä Sini4,Schmedding Eric21,Suominen Tiina4,Straub Volker11,Staples Christopher22,Van den Bergh Peter Y.K.23,Vilchez Juan J.1920,Wagner Kathryn R.24,Wheeler Patricia G.25,Wraige Elizabeth13,Laing Nigel G.226

Affiliation:

1. Neurogenetic Unit, Department of Neurology; Royal Perth Hospital; Western Australia Australia

2. Diagnostic Genomics Laboratory; Pathwest, Queen Elizabeth II Medical Centre; Nedlands Western Australia Australia

3. Department of Clinical Neurology; John Radcliffe Hospital; Oxford UK

4. Neuromuscular Research Center; Tampere University and University Hospital; Tampere Finland

5. Folkhalsan Institute of Genetics, Department of Medical Genetics; University of Helsinki; Finland

6. Department of Neurology; Vasa Central Hospital; Vasa Finland

7. Department of Neurology; Hadassah Hebrew University Medical Centre; Jerusalem Israel

8. Department of Neurological Sciences; Rush University; Chicago Illinois

9. Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section; National Institute of Neurological Disorders and Stroke/NIH; Bethesda Maryland

10. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

11. Institute of Human Genetics; International Centre for Life; Newcastle upon Tyne UK

12. Department of Neurology; Washington University School of Medicine; Saint Louis Missouri

13. Birmingham Muscle and Nerve Centre, Department of Neurology; University Hospital Birmingham NHS Trust; Birmingham UK

14. Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

15. Division of Human Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

16. Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital; St Thomas’ Hospital; London UK

17. Randall Division for Cell and Molecular Biophysics; Muscle Signalling Section; King's College London UK

18. Clinical Neuroscience Division, IOP; King's College London; UK

19. Department of Neurology; Hospital Universitari I Politecnic La Fe; Valencia Spain

20. Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerarivas (CIBERNED); Valencia Spain

21. Neuromusculair Referentie Centrum; Universiteits Ziekenhuis Brussel; Brussels Belgium

22. Department of Neurology; Mater Adult and Womens Hospital; South Brisbane Queensland Australia

23. Neuromuscular Reference Centre, University Hospitals Saint-Luc; University of Louvain; Brussels Belgium

24. The Center for Genetic Muscle Disorders, Kennedy Krieger Institute and Departments of Neurology and Neuroscience; The Johns Hopkins School of Medicine; Baltimore Maryland

25. Division of Genetics; Nemours Children's Clinic; Orlando Florida

26. Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research; ‘QQ’ Block; QEII Medical Centre; Nedlands Australia

Funder

Muscular Dystrophy Association

National Institutes of Health

Australian National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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