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Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Autor: 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.

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Feb; Vol. 29 (2), pp. 97-107. Date of Electronic Publication: 2018 Dec 20.