TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

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Published in Ann Neurol on November 13, 2015

Authors

S Donkervoort1, M Papadaki2, J M de Winter3, M B Neu1, J Kirschner4, V Bolduc1, M L Yang5, M A Gibbons6, Y Hu1, J Dastgir1, M E Leach1,7, A Rutkowski8, A R Foley1, M Krüger9, E P Wartchow10, E McNamara11, R Ong11, K J Nowak1, N G Laing12, N F Clarke13, Cac Ottenheijm3, S B Marston2, C G Bönnemann1

Author Affiliations

1: National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
2: National Heart and Lung Institute, Imperial College London, London, UK.
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: University of Colorado School of Medicine, Department of Pediatrics and Neurology, Section of Child Neurology, Aurora, CO, USA.
6: University of Colorado Denver School of Medicine, Aurora, CO, USA.
7: Children's National Health System, Washington DC, USA.
8: Kaiser SCPMG, Cure CMD, P.O. Box 701, Olathe, KS 66051, USA.
9: Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Freiburg, Germany.
10: Department of Pathology, Children's Hospital Colorado, Aurora, Colorado, USA.
11: Neuromuscular Diseases Laboratory, Centre for Medical Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia Crawley, WA, Australia.
12: Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Perth, Western Australia, Australia.
13: Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia.

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