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Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Savarese, Marco; Vihola, Anna; Jokela, Manu E; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne.
Afiliación
  • Savarese M; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Vihola A; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Jokela ME; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Huovinen SP; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Gerevini S; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Torella A; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Johari M; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Scarlato M; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Jonson PH; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Onore ME; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Hackman P; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Gautel M; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Nigro V; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Previtali SC; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
  • Udd B; Folkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of C
Neurol Genet ; 7(5): e619, 2021 Oct.
Article en En | MEDLINE | ID: mdl-34386585
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Qualitative_research Idioma: En Revista: Neurol Genet Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Qualitative_research Idioma: En Revista: Neurol Genet Año: 2021 Tipo del documento: Article