Nat Genet. 2005 Nov;37(11):1207-9. Epub 2005 Oct 16.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P.

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INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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.

PMID:: 16227997; [PubMed - indexed for MEDLINE]

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[Mutations in dynamin 2 cause dominant centronuclear myopathy]. [Med Sci (Paris). 2006]
[Mutations in dynamin 2 cause dominant centronuclear myopathy].
Bitoun M, Romero NB, Guicheney P. Med Sci (Paris). 2006 Feb; 22(2):101-2.
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. [Hum Mol Genet. 2010]
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, et al. Hum Mol Genet. 2010 Dec 15; 19(24):4820-36. Epub 2010 Sep 21.
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. [Neuromuscul Disord. 2007]
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J. Neuromuscul Disord. 2007 Dec; 17(11-12):955-9. Epub 2007 Sep 6.
Review Dynamin 2 and human diseases. [J Mol Med (Berl). 2010]
Review Dynamin 2 and human diseases.
Durieux AC, Prudhon B, Guicheney P, Bitoun M. J Mol Med (Berl). 2010 Apr; 88(4):339-50. Epub 2010 Feb 3.
Review Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. [Clin Neuropathol. 2008]
Review Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.
Jeub M, Bitoun M, Guicheney P, Kappes-Horn K, Strach K, Druschky KF, Weis J, Fischer D. Clin Neuropathol. 2008 Nov-Dec; 27(6):430-8.

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Cited by 37 PubMed Central articles

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy. [PLoS Genet. 2013]
Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy.
Böhm J, Vasli N, Maurer M, Cowling B, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, et al. PLoS Genet. 2013 Jun; 9(6):e1003430. Epub 2013 Jun 6.
Constitutive expression of Yes-associated protein (Yap) in adult skeletal muscle fibres induces muscle atrophy and myopathy. [PLoS One. 2013]
Constitutive expression of Yes-associated protein (Yap) in adult skeletal muscle fibres induces muscle atrophy and myopathy.
Judson RN, Gray SR, Walker C, Carroll AM, Itzstein C, Lionikas A, Zammit PS, De Bari C, Wackerhage H. PLoS One. 2013; 8(3):e59622. Epub 2013 Mar 27.
Two dynamin-2 genes are required for normal zebrafish development. [PLoS One. 2013]
Two dynamin-2 genes are required for normal zebrafish development.
Gibbs EM, Davidson AE, Trickey-Glassman A, Backus C, Hong Y, Sakowski SA, Dowling JJ, Feldman EL. PLoS One. 2013; 8(2):e55888. Epub 2013 Feb 13.

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Mutations in dynamin 2 cause dominant centronuclear myopathy.
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nat Genet. 2005 Nov ;37(11):1207-9. Epub 2005 Oct 16 .

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