Résumé :
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Autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy mostly characterized by delayed motor milestones, slowly progressive muscle weakness, and bilateral ptosis.1 Mutations in the DNM2 gene encoding dynamin 2 (DNM2), a large GTPase involved in membrane trafficking, have been identified in CNM.2,3 Mutations in the middle domain of the protein are mostly associated with the slowly progressive mild late-onset CNM,2 while mutations in the C-terminal part of the Pleckstrin homology (PH) domain cause a more severe neonatal phenotype.3 In addition, mutations in the N-terminal part of PH domain have been reported in intermediate and axonal Charcot-Marie-Tooth disease (CMT).4–6 Here, we report a novel DNM2 CNM mutation in the CMT region. Among the DNM2-related CNM, the phenotype appears intermediate, with an onset at the end of the first decade and a more rapid progression relative to the mild late-onset DNM2-CNM.
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