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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Vissing, John; Barresi, Rita; Witting, Nanna; Van Ghelue, Marijke; Gammelgaard, Lise; Bindoff, Laurence A; Straub, Volker; Lochmüller, Hanns; Hudson, Judith; Wahl, Christoph M; Arnardottir, Snjolaug; Dahlbom, Kathe; Jonsrud, Christoffer; Duno, Morten.
Afiliação
  • Vissing J; 1 Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark vissing@rh.dk.
  • Barresi R; 2 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Witting N; 1 Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Van Ghelue M; 3 Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.
  • Gammelgaard L; 4 Department of Radiology, Viborg Hospital, Viborg, Denmark.
  • Bindoff LA; 5 Department of Neurology, Haukeland University hospital, and Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
  • Straub V; 2 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Lochmüller H; 2 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Hudson J; 6 Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Wahl CM; 7 Department of Neurology, Kempten Hospital, Kempten, Germany.
  • Arnardottir S; 8 Department of Neurology, Karolinska, University Hospital, Stockholm, Sweden.
  • Dahlbom K; 9 Department of Neurology and Neurophysiology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
  • Jonsrud C; 3 Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.
  • Duno M; 10 Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Brain ; 139(Pt 8): 2154-63, 2016 08.
Article em En | MEDLINE | ID: mdl-27259757
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Deleção de Genes / Distrofia Muscular do Cíngulo dos Membros / Proteínas Musculares Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Deleção de Genes / Distrofia Muscular do Cíngulo dos Membros / Proteínas Musculares Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Dinamarca