Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

Atle Melberg (1) , Christine Kretz (2, 3) , Hannu Kalimo (4, 5) , Carina Wallgren-Pettersson (6) , Anne Toussaint (2, 3) , Johann Böhm (2, 3) , Erik Stålberg (4) , Jocelyn Laporte (2, 3)

1 Uppsala University
2 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
3 Collège de France - Chaire Génomique humaine et évolution
4 Uppsala University Hospital
5 HUS - Helsinki University Hospital [Finland]
6 Helsingin yliopisto = Helsingfors universitet = University of Helsinki

We report a family with autosomal dominant centronuclear (myotubular) myopathy caused by a novel mutation, p.A618D, in dynamin 2 (DNM2). The 64-year-old mother and 26-year-old daughter had neonatal onset with hypotonia and weak suckling, followed by improvement, then slowly progressive muscle weakness and respiratory restriction. Muscle biopsy showed radial sarcoplasmic strands around the frequent central nuclei. Electrophysiology revealed predominantly myopathic patterns without peripheral nerve involvement. Centronuclear myopathy with neonatal onset caused by a DNM2 mutation in the C-terminal part of the pleckstrin homology domain may have a favorable prognosis and follow a course similar to adult-onset centronuclear myopathy. We advise respiratory follow-up in these patients.

Domaines: Génétique

Atle Melberg, Christine Kretz, Hannu Kalimo, Carina Wallgren-Pettersson, Anne Toussaint, et al.. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. Neuromuscul Disord, 2010, 20 (1), pp.53-56. ⟨10.1016/j.nmd.2009.10.006⟩. ⟨hal-04009058⟩