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Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
van de Locht, Martijn; Donkervoort, Sandra; de Winter, Josine M; Conijn, Stefan; Begthel, Leon; Kusters, Benno; Mohassel, Payam; Hu, Ying; Medne, Livija; Quinn, Colin; Moore, Steven A; Foley, A Reghan; Seo, Gwimoon; Hwee, Darren T; Malik, Fady I; Irving, Thomas; Ma, Weikang; Granzier, Henk L; Kamsteeg, Erik-Jan; Immadisetty, Kalyan; Kekenes-Huskey, Peter; Pinto, José R; Voermans, Nicol; Bönnemann, Carsten G; Ottenheijm, Coen Ac.
Affiliation
  • van de Locht M; Deptartment of Physiology, Amsterdam UMC (location VUmc), Amsterdam, Netherlands.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • de Winter JM; Deptartment of Physiology, Amsterdam UMC (location VUmc), Amsterdam, Netherlands.
  • Conijn S; Deptartment of Physiology, Amsterdam UMC (location VUmc), Amsterdam, Netherlands.
  • Begthel L; Deptartment of Physiology, Amsterdam UMC (location VUmc), Amsterdam, Netherlands.
  • Kusters B; Department of Neurology and Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Medne L; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Quinn C; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Moore SA; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Seo G; Protein Expression Facility, Institute of Molecular Biophysics, The Florida State University, Tallahassee, Florida, USA.
  • Hwee DT; Research and Early Development, Cytokinetics Inc., South San Francisco, California, USA.
  • Malik FI; Research and Early Development, Cytokinetics Inc., South San Francisco, California, USA.
  • Irving T; BioCAT, Illinois Institute of Technology, Chicago, Illinois, USA.
  • Ma W; BioCAT, Illinois Institute of Technology, Chicago, Illinois, USA.
  • Granzier HL; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.
  • Kamsteeg EJ; Department of Neurology and Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Immadisetty K; Department of Cell and Molecular Physiology, Loyola University, Chicago, Illinois, USA.
  • Kekenes-Huskey P; Department of Cell and Molecular Physiology, Loyola University, Chicago, Illinois, USA.
  • Pinto JR; Department of Biomedical Sciences, The Florida State University College of Medicine, Tallahassee, Florida, USA.
  • Voermans N; Department of Neurology and Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Ottenheijm CA; Deptartment of Physiology, Amsterdam UMC (location VUmc), Amsterdam, Netherlands.
J Clin Invest ; 131(9)2021 05 03.
Article in En | MEDLINE | ID: mdl-33755597
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sarcomeres / Calcium / Troponin C / Molecular Dynamics Simulation / Muscle Contraction / Myotonia Congenita Limits: Humans Language: En Journal: J Clin Invest Year: 2021 Document type: Article Affiliation country: Países Bajos Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sarcomeres / Calcium / Troponin C / Molecular Dynamics Simulation / Muscle Contraction / Myotonia Congenita Limits: Humans Language: En Journal: J Clin Invest Year: 2021 Document type: Article Affiliation country: Países Bajos Country of publication: Estados Unidos