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Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
Lindqvist, Johan; Ma, Weikang; Li, Frank; Hernandez, Yaeren; Kolb, Justin; Kiss, Balazs; Tonino, Paola; van der Pijl, Robbert; Karimi, Esmat; Gong, Henry; Strom, Josh; Hourani, Zaynab; Smith, John E; Ottenheijm, Coen; Irving, Thomas; Granzier, Henk.
Affiliation
  • Lindqvist J; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Ma W; Department of Biology, Illinois Institute of Technology, Chicago, IL, 60616, USA.
  • Li F; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Hernandez Y; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Kolb J; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Kiss B; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Tonino P; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • van der Pijl R; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Karimi E; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Gong H; Department of Biology, Illinois Institute of Technology, Chicago, IL, 60616, USA.
  • Strom J; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Hourani Z; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Smith JE; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Ottenheijm C; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
  • Irving T; Department of Biology, Illinois Institute of Technology, Chicago, IL, 60616, USA.
  • Granzier H; Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA. granzier@email.arizona.edu.
Nat Commun ; 11(1): 2699, 2020 06 01.
Article in En | MEDLINE | ID: mdl-32483185
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Mutation, Missense / Muscle Proteins / Myofibrils Limits: Animals Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Mutation, Missense / Muscle Proteins / Myofibrils Limits: Animals Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United kingdom