Skip Navigation


Brain Advance Access originally published online on April 3, 2006
Brain 2006 129(6):1463-1469; doi:10.1093/brain/awl071
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
129/6/1463    most recent
awl071v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (15)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Fischer, D.
Right arrow Articles by Romero, N. B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Fischer, D.
Right arrow Articles by Romero, N. B.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

Dirk Fischer1,5, Muriel Herasse1,2, Marc Bitoun1,2, Héctor M. Barragán-Campos3,4, Jacques Chiras3,4, Pascal Laforêt1,2,4, Michel Fardeau1,2,4, Bruno Eymard1,2,4, Pascale Guicheney1,2 and Norma B. Romero1,2,4

1 Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie IFR14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 2 Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpêtrière Paris, France 3 Department of Neuroradiology, Groupe Hospitalier Pitié-Salpêtrière Paris, France 4 Assistance Publique–Hôpitaux de Paris (AP-HP) Paris, France 5 Muskellabor, Department of Neurology, University of Bonn Germany

Correspondence to: Dr Norma Beatriz Romero, Inserm U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France E-mail: nb.romero{at}myologie.chups.jussieu.fr

Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres. Recently, different missense mutations affecting the middle domain of the dynamin 2 (DNM2) have been shown to cause autosomal dominant CNM. In order to better define the phenotype of DNM2-related CNM, we report here on the clinical and muscle imaging findings of 10 patients harbouring DNM2 mutations. DNM2-CNM is characterized by slowly progressive muscular weakness usually beginning in adolescence or early adulthood. In addition to bilateral ptosis, our data show that distal muscle weakness often exceeds proximal involvement. Furthermore, electrophysiological investigations frequently demonstrated signs of mild axonal peripheral nerve involvement, and electromyographical examination may show neuropathic changes in addition to the predominant myopathic changes. These features overlap with findings seen in the phenotype of DNM2-related autosomal dominant Charcot–Marie–Tooth disease type 2B. In all 10 DNM2-CNM patients, muscle computer tomography assessment showed a consistent pattern of muscular involvement and a characteristic temporal course with early and predominant distal muscle involvement, and later affection of the posterior thigh compartment and gluteus minimus muscles. The recognition of this specific imaging pattern of muscle involvement—distinct to the reported patterns in other congenital myopathies—may enable a better selection for direct genetic testing.

Key Words: dynamin 2; centronuclear myopathy; CMT-2B; muscle CT; distal muscle weakness

Abbreviations: CK, creatine kinase; CMAP, compound motor action potentials; CNM, centronuclear myopathy; DTRs, deep tendon reflexes; GED, GTPase effector domain; MNCR, median nerve conduction velocities; NCS, nerve conduction studies; NEE, needle electrode examination; PH, Pleckstrin Homology

Received December 3, 2005. Revised February 7, 2006. Accepted March 3, 2006.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 NeurologyHome page
D. Fischer, R. A. Kley, K. Strach, C. Meyer, T. Sommer, K. Eger, A. Rolfs, W. Meyer, A. Pou, J. Pradas, et al.
Distinct muscle imaging patterns in myofibrillar myopathies
Neurology, September 2, 2008; 71(10): 758 - 765.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
G. M. Fabrizi, M. Ferrarini, T. Cavallaro, I. Cabrini, R. Cerini, L. Bertolasi, and N. Rizzuto
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
Neurology, July 17, 2007; 69(3): 291 - 295.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
P. M. Foye
Myopathic (not neuropathic) electrophysiological abnormalities in dynamin 2-related centronuclear myopathy
Brain, February 1, 2007; 130(2): e63 - e63.
[Full Text] [PDF]

Home page
 NeurologyHome page
D. Fischer, M. Herasse, A. Ferreiro, H. M. Barragan-Campos, J. Chiras, L. Viollet, S. Maugenre, J. -P. Leroy, N. Monnier, J. Lunardi, et al.
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene
Neurology, December 26, 2006; 67(12): 2217 - 2220.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Sci.Home page
V. M. Olkkonen and E. Ikonen
When intracellular logistics fails - genetic defects in membrane trafficking
J. Cell Sci., December 15, 2006; 119(24): 5031 - 5045.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.