Echaniz-Laguna Andoni, Nicot Anne-Sophie, Carré Sophie, Franques Jérôme, Tranchant Christine, Dondaine Nicolas, Biancalana Valérie, Mandel Jean-Louis, Laporte Jocelyn
Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.
Neuromuscul Disord. 2007 Dec;17(11-12):955-9. doi: 10.1016/j.nmd.2007.06.467. Epub 2007 Sep 6.
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.
发动蛋白2（DNM2）是一种广泛表达的大型GTP酶，其突变会导致常染色体显性遗传的中央核性肌病（DNM2-CNM）和2B型常染色体显性遗传的夏科-马里-图斯病（DNM2-CMT2B）。我们报告了来自同一家族的5例患者，他们均表现为显性中央核性肌病、轻度认知障碍、轻度轴索性周围神经受累，以及DNM2基因中的新型E368Q突变。本研究表明，发动蛋白2相关的中央核性肌病和夏科-马里-图斯病的表型存在重叠，且DNM2突变可能会改变脑功能。本报告扩展了对DNM2中央核性肌病的临床认识，并表明应进一步研究DNM2突变在中枢神经系统中的作用。
