Association of a NovelACTA1Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

Author:

Zukosky Kristen1,Meilleur Katherine2,Traynor Bryan J.3,Dastgir Jahannaz4,Medne Livija5,Devoto Marcella6,Collins James7,Rooney Jachinta8,Zou Yaqun1,Yang Michele L.9,Gibbs J. Raphael10,Meier Markus11,Stetefeld Joerg11,Finkel Richard S.12,Schessl Joachim13,Elman Lauren14,Felice Kevin15,Ferguson Toby A.16,Ceyhan-Birsoy Ozge17,Beggs Alan H.17,Tennekoon Gihan5,Johnson Janel O.3,Bönnemann Carsten G.1

Affiliation:

1. National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland

2. National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland

3. Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, Porter Neuroscience Research Center, National Institute on Aging, National Institutes of Health, Bethesda, Maryland

4. Division of Child Neurology, Columbia University Medical Center, New York, New York

5. Department of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

6. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia7Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia8Department of Molecular Medicine, Universit

7. Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio

8. National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland11Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC

9. Department of Pediatrics and Neurology, Children’s Hospital Colorado, Aurora

10. Computational Biology Core, Laboratory of Neurogenetics, Porter Neuroscience Research Center, National Institute on Aging, National Institutes of Health, Bethesda, Maryland

11. Department of Chemistry, Microbiology, Biochemistry, and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada

12. Department of Pediatrics, Nemours Children’s Hospital, Orlando, Florida

13. Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximillans University of Munich, Munich, Germany

14. Department of Neurology, University of Pennsylvania, Philadelphia

15. Department of Neuromuscular Medicine, Hospital for Special Care, New Britain, Connecticut

16. Shriners Pediatric Research Center, Department of Neurology, Temple University, Philadelphia, Pennsylvania

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

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

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