Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Andoni Echaniz-Laguna , Anne-Sophie Nicot (1) , Sophie Carré , Jérôme Franques , Christine Tranchant (2) , Nicolas Dondaine , Valérie Biancalana (1) , Jean-Louis Mandel (1, 3) , Jocelyn Laporte (1)

1 IGBMC - Institut de génétique et biologie moléculaire et cellulaire
2 Département de Neurologie
3 Service de génétique médicale

Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). We report a series of 5 patients from the same family who all presented with dominant centronuclear myopathy, mild cognitive impairment, mild axonal peripheral nerve involvement, and the novel E368Q mutation in the DNM2 gene. This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function. This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied.

Domaines: Biologie moléculaire

Andoni Echaniz-Laguna, Anne-Sophie Nicot, Sophie Carré, Jérôme Franques, Christine Tranchant, et al.. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.. Neuromuscular Disorders, 2007, 17 (11-12), pp.955-959. ⟨10.1016/j.nmd.2007.06.467⟩. ⟨hal-00207313⟩