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Brain Advance Access originally published online on April 3, 2006
Brain 2006 129(6):1463-1469; 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

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.


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