Mutations in dynamin 2 cause dominant centronuclear myopathy
| Autor: | Hanns Lochmüller, Xavier Ferrer, Alan H. Beggs, Svetlana Maugenre, Pierre-Yves Jeannet, Pascale Guicheney, Marc Bitoun, Emmanuelle Lacène, Jocelyn Laporte, Michel Fardeau, Bruno Eymard, Jean-Jacques Martin, Pascal Laforêt, Norma B. Romero |
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| Přispěvatelé: | Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Born-Bunge Institute [Anvers], Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ludwig-Maximilians-Universität München (LMU), Harvard Medical School [Boston] (HMS), Bitoun, Marc, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I |
| Rok vydání: | 2005 |
| Předmět: |
Male
MESH: Sequence Analysis DNA [SDV]Life Sciences [q-bio] [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology MESH: Centrosome Dynamin II 0302 clinical medicine Genes Dominant Genetics 0303 health sciences MESH: Polymorphism Single Nucleotide Endocytosis [SDV] Life Sciences [q-bio] MESH: Endocytosis Female Myopathies Structural Congenital MESH: Myopathies Structural Congenital Mutation Missense [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics Biology MESH: Actins Polymorphism Single Nucleotide 03 medical and health sciences medicine Humans Centronuclear myopathy Autosomal dominant centronuclear myopathy Actin 030304 developmental biology Dynamin Centrosome MESH: Mutation Missense MESH: Humans Cell Membrane [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology Sequence Analysis DNA medicine.disease Congenital myopathy MESH: Male Actins DNM2 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics MESH: Dynamin II MESH: Genes Dominant MESH: Female 030217 neurology & neurosurgery MESH: Cell Membrane |
| Zdroj: | Nature Genetics Nature Genetics, Nature Publishing Group, 2005, 37 (11), pp.1207-9. ⟨10.1038/ng1657⟩ Nature Genetics, Nature Publishing Group, 2005, 37 (11), pp.1207-1209. ⟨10.1038/ng1657⟩ Nature Genetics, 2005, 37 (11), pp.1207-1209. ⟨10.1038/ng1657⟩ Nature genetics |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng1657 |
| Popis: | International audience; Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13.2), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly and centrosome cohesion. The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function. |
| Databáze: | OpenAIRE |
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