Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.

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第一作者： Jaehong,Park

第一单位： Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.

作者： Jaehong,Park ^[1] ; Hyun Su,Kim ^[2] ; Hye Mi,Kwon ^[1] ; Jiah,Kim ^[1] ; Soo Hyun,Nam ^[1] ; Na Young,Jung ^[3] ; Ah Jin,Lee ^[4] ; Young Hee,Jung ^[5] ; Sang Beom,Kim ^[5] ; Ki Wha,Chung ^[6] ; Byung-Ok,Choi ^[7]

作者单位： Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. ^[1] Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, 06351, Seoul, Korea. ^[2] Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. ^[3] Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. ^[4] Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea. ^[5] Department of Neurology, College of Medicine, Myongji Hospital, Hanyang University, Goyang, Korea. ^[6] Department of Neurology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, Seoul, 05278, Korea. ^[7] Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea. kwchung@kongju.ac.kr. ^[8] Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. bochoi77@hanmail.net. ^[9] Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. bochoi77@hanmail.net. ^[10] Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. bochoi77@hanmail.net. ^[11]

关键词 CMT1C Charcot-Marie-Tooth disease LITAF MRI Mutation

主题词夏科-马里-图斯病(Charcot-Marie-Tooth Disease);人类(Humans);突变(Mutation);核蛋白质类(Nuclear Proteins);转录因子(Transcription Factors)

DOI 10.1007/s13258-022-01253-w

PMID 35608774

发布时间 2022-08-30

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