Article
DNM2 mutations in Chinese Han patients with centronuclear myopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2016
Lin Pengfei, Liu Xinhong, Zhao Dandan, Dai Tingjun, Wu Huamin, Gong Yaoqin, Yan Chuanzhu
Abstract excerpt
Centronuclear myopathy (CNM) is a congenital myopathy characterized by an abnormally high number of muscle fibers with centrally located nuclei. Autosomal-dominant centronuclear myopathy-1 (CNM1) results from mutations in the dynamin 2 gene (DNM2) and accounts for approximately 50 % of all CNM cases. Up to now, around 35 mutations of DNM2 gene have been identified in CNM; however, the underlying molecular...
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