title: Mutations in dynamin 2 cause dominant centronuclear myopathy.
abstract: 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.
authors.affiliation: INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Bitoun
authors.forename: Svetlana
authors.initials: S
authors.lastname: Maugenre
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Jeannet
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Lacène
authors.forename: Xavier
authors.initials: X
authors.lastname: Ferrer
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforêt
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Martin
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D000199:Actins; D002462:Cell Membrane / Q000378:metabolism; D018385:Centrosome / Q000378:metabolism; D034285:Dynamin II / Q000235:genetics*; D004705:Endocytosis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D000199:Actins; D034285:Dynamin II