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TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Donkervoort, S; Papadaki, M; de Winter, J M; Neu, M B; Kirschner, J; Bolduc, V; Yang, M L; Gibbons, M A; Hu, Y; Dastgir, J; Leach, M E; Rutkowski, A; Foley, A R; Krüger, M; Wartchow, E P; McNamara, E; Ong, R; Nowak, K J; Laing, N G; Clarke, N F; Ottenheijm, Cac; Marston, S B; Bönnemann, C G.
Afiliación
  • Donkervoort S; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Papadaki M; National Heart and Lung Institute, Imperial College London, London, UK.
  • de Winter JM; Department of Physiology, VU University Medical Center, Amsterdam, The Netherlands.
  • Neu MB; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Kirschner J; Department of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany.
  • Bolduc V; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Yang ML; University of Colorado School of Medicine, Department of Pediatrics and Neurology, Section of Child Neurology, Aurora, CO, USA.
  • Gibbons MA; University of Colorado Denver School of Medicine, Aurora, CO, USA.
  • Hu Y; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Dastgir J; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Leach ME; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Rutkowski A; Children's National Health System, Washington DC, USA.
  • Foley AR; Kaiser SCPMG, Cure CMD, P.O. Box 701, Olathe, KS 66051, USA.
  • Krüger M; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Wartchow EP; Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Freiburg, Germany.
  • McNamara E; Department of Pathology, Children's Hospital Colorado, Aurora, Colorado, USA.
  • Ong R; Neuromuscular Diseases Laboratory, Centre for Medical Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia Crawley, WA, Australia.
  • Nowak KJ; Neuromuscular Diseases Laboratory, Centre for Medical Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia Crawley, WA, Australia.
  • Laing NG; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
  • Clarke NF; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Perth, Western Australia, Australia.
  • Ottenheijm C; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia.
  • Marston SB; Department of Physiology, VU University Medical Center, Amsterdam, The Netherlands.
  • Bönnemann CG; National Heart and Lung Institute, Imperial College London, London, UK.
Ann Neurol ; 78(6): 982-994, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26418456
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tropomiosina / Fibras Musculares Esqueléticas / Contracción Muscular / Enfermedades Musculares Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tropomiosina / Fibras Musculares Esqueléticas / Contracción Muscular / Enfermedades Musculares Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos