Article
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
Molecular vision - 1 Jan 2014
Liu Gang, Chen Xue, Sun Xiantao, Liu Hu, Zhao Kanxing, Chang Qinglin, Pan Xinyuan, Wang Xiuying, Yuan Songtao, Liu Qinghuai, Zhao Chen
Abstract excerpt
PURPOSE: To identify the causative mutation with its possible origin in a Chinese family with congenital fibrosis of extraocular muscles type 1 (CFEOM1) and to characterize the ocular phenotypes and lesions in the corresponding intracranial nerves. METHODS: Three affected siblings and their asymptomatic parents underwent comprehensive ophthalmic examinations and neuropathologic analysis involving magnetic...
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