Article
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain : a journal of neurology - 1 May 2017
Tsai Pei-Chien, Soong Bing-Wen, Mademan Inès, Huang Yen-Hua, Liu Chia-Rung, Hsiao Cheng-Tsung, Wu Hung-Ta, Liu Tze-Tze, Liu Yo-Tsen, Tseng Yen-Ting, Lin Kon-Ping, Yang Ueng-Cheng, Chung Ki Wha, Choi Byung-Ok, Nicholson Garth A, Kennerson Marina L, Chan Chih-Chiang, De Jonghe Peter, Cheng Tzu-Hao, Liao Yi-Chu, Züchner Stephan, Baets Jonathan, Lee Yi-Chung
Abstract excerpt
Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes remain elusive in many families. To identify an additional causal gene for distal hereditary motor neuropathy, we performed exome sequencing for two affected...
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