Article
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
Molecular vision - 13 Sept 2007
Zhang Baorong, Liu Zhirong, Zhao Guohua, Xie Xin, Yin Xinzhen, Hu Zhengmao, Xu Shanhu, Li Qian, Song Fei, Tian Jun, Luo Wei, Ding Meiping, Yin Jinfu, Xia Kun, Xia Jiahui
Abstract excerpt
PURPOSE: Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations. Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN. METHODS: Clinical data and genomic DNA of three Chinese CMN families were collected...
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