Article
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Journal of medical genetics - 1 Apr 2019
Zeng Sheng, Zhang Mei-Yun, Wang Xue-Jing, Hu Zheng-Mao, Li Jin-Chen, Li Nan, Wang Jun-Ling, Liang Fan, Yang Qi, Liu Qian, Fang Li, Hao Jun-Wei, Shi Fu-Dong, Ding Xue-Bing, Teng Jun-Fang, Yin Xiao-Meng, Jiang Hong, Liao Wei-Ping, Liu Jing-Yu, Wang Kai, Xia Kun, Tang Bei-Sha
Abstract excerpt
BACKGROUND: The locus for familial cortical myoclonic tremor with epilepsy (FCMTE) has long been mapped to 8q24 in linkage studies, but the causative mutations remain unclear. Recently, expansions of intronic TTTCA and TTTTA repeat motifs within SAMD12 were found to be involved in the pathogenesis of FCMTE in Japanese pedigrees. We aim to identify the causative mutations of FCMTE in Chinese pedigrees. METHODS: We...
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