GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies.
Yi-Chu LiaoFu-Pang ChangHan-Wei HuangTing-Bing ChenYing-Tsen ChouShao-Lun HsuKangyang JihYi-Hong LiuCheng-Tsung HsiaoHiromi FukukdaTakeshi MizuguchiKon-Ping Kp LinChou-Ching K LinNaomichi MatsumotoMarina KennersonYi-Chung LeePublished in: Neurology (2021)
This study provides Class III evidence that in Taiwanese patients with genetically undiagnosed CMT, 10.6% of the CMT2 cases have the GGC repeat expansion in NOTCH2NLC.
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