Article
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.
Genes & genomics - 1 Aug 2022
Park Jaehong, Kim Hyun Su, Kwon Hye Mi, Kim Jiah, Nam Soo Hyun, Jung Na Young, Lee Ah Jin, Jung Young Hee, Kim Sang Beom, Chung Ki Wha, Choi Byung-Ok
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C. OBJECTIVE: This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features. METHODS: In total, 1,143 unrelated Korean families with CMT were enrolled in a...
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