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Atypical phenotypes in titinopathies explained by second titin mutations
Authors:Anni Evilä MSc  Anna Vihola PhD  Jaakko Sarparanta MSc  Olayinka Raheem PhD  Johanna Palmio MD  PhD  Satu Sandell MD  Bruno Eymard MD  PhD  Isabel Illa MD  PhD  Ricard Rojas‐Garcia MD  PhD  Karolina Hankiewicz MD  Luis Negrão MD  PhD  Tuija Löppönen MD  PhD  Pekka Nokelainen MD  PhD  Mikko Kärppä MD  PhD  Sini Penttilä MSc  Mark Screen MSc  Tiina Suominen PhD  Isabelle Richard PhD  Peter Hackman PhD  Bjarne Udd MD  PhD
Affiliation:1. Folkh?lsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland;2. Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland;3. Sein?joki Central Hospital, Department of Neurology, Sein?joki, Finland;4. Institute of Myology, National Reference Center for Neuromuscular Disorders, University Hospital of Salpêtrière, Paris, France;5. Unitat Patologia Neuromuscular, Servei Neurologia, Hospital Santa Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain;6. Neuromuscular Unit, Neurology Department, Coimbra University Hospital, Coimbra, Portugal;7. Department of Child Neurology, Kuopio University Hospital, Kuopio, Finland;8. Department of Clinical Medicine, Neurology, University of Oulu and Clinical Research Center, Oulu University Hospital, Oulu, Finland;9. Généthon, Evry, France;10. Neurology Department, Vaasa Central Hospital, Vaasa, Finland
Abstract:
Keywords:
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