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Brain Advance Access published online on April 3, 2006
Brain, doi:10.1093/brain/awl071
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© 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
Received December 3, 2005
Revised February 7, 2006
Accepted March 3, 2006

Article

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

Dirk Fischer 1, Muriel Herasse 2, Marc Bitoun 2, Héctor M. Barragán-Campos 3, Jacques Chiras 3, Pascal Laforêt 4, Michel Fardeau 4, Bruno Eymard 4, Pascale Guicheney 2, and Norma B. Romero 4 *

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

* To whom correspondence should be addressed.
Norma B. Romero, E-mail: nb.romero{at}myologie.chups.jussieu.fr


  Abstract

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.

Keywords: dynamin 2; centronuclear myopathy; CMT-2B; muscle CT; distal muscle weakness.
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