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Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.
Kiiski, Kirsi J; Lehtokari, Vilma-Lotta; Vihola, Anna K; Laitila, Jenni M; Huovinen, Sanna; Sagath, Lydia J; Evilä, Anni E; Paetau, Anders E; Sewry, Caroline A; Hackman, Peter B; Pelin, Katarina B; Wallgren-Pettersson, Carina; Udd, Bjarne.
Affiliation
  • Kiiski KJ; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.
  • Lehtokari VL; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland. Electronic address: vilma.lehtokari@helsinki.fi.
  • Vihola AK; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.
  • Laitila JM; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.
  • Huovinen S; Department of Pathology, Tampere University Hospital, Fimlab Laboratories, Tampere, Finland.
  • Sagath LJ; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.
  • Evilä AE; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.
  • Paetau AE; Department of Pathology, HUSLAB, Helsinki University Hospital & University of Helsinki, Finland.
  • Sewry CA; Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK.
  • Hackman PB; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.
  • Pelin KB; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.
  • Wallgren-Pettersson C; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.
  • Udd B; The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
Neuromuscul Disord ; 29(2): 97-107, 2019 02.
Article in En | MEDLINE | ID: mdl-30679003
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Muscle, Skeletal / Muscle Proteins Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Muscle, Skeletal / Muscle Proteins Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2019 Document type: Article Affiliation country: Country of publication: