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Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.
Palmio, Johanna; Jonson, Per Harald; Evilä, Anni; Auranen, Mari; Straub, Volker; Bushby, Kate; Sarkozy, Anna; Kiuru-Enari, Sari; Sandell, Satu; Pihko, Helena; Hackman, Peter; Udd, Bjarne.
Afiliação
  • Palmio J; Department of Neurology, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, FIN-33014, Finland. Electronic address: johanna.palmio@uta.fi.
  • Jonson PH; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Evilä A; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Auranen M; Department of Neurology, Unit for Neuromuscular Diseases, Helsinki University Central Hospital, Helsinki, Finland.
  • Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Bushby K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Sarkozy A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Kiuru-Enari S; Department of Neurology, Unit for Neuromuscular Diseases, Helsinki University Central Hospital, Helsinki, Finland.
  • Sandell S; Department of Neurology, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, FIN-33014, Finland; Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland.
  • Pihko H; Deparment of Child Neurology, Helsinki University Central Hospital, Helsinki, Finland.
  • Hackman P; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Udd B; Department of Neurology, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, FIN-33014, Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Department of Neurology,
Neuromuscul Disord ; 25(11): 835-42, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26338452
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Chaperonas Moleculares / Mutação de Sentido Incorreto / Distrofia Muscular do Cíngulo dos Membros / Proteínas de Choque Térmico HSP40 / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans País/Região como assunto: Europa Idioma: En Revista: Neuromuscul Disord Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Chaperonas Moleculares / Mutação de Sentido Incorreto / Distrofia Muscular do Cíngulo dos Membros / Proteínas de Choque Térmico HSP40 / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans País/Região como assunto: Europa Idioma: En Revista: Neuromuscul Disord Ano de publicação: 2015 Tipo de documento: Article