Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.
Hye Jin KimSoo Hyun NamHye Mi KwonSi On LimJae Hong ParkHyun Su KimSang Beom KimKyung Suk LeeJi Eun LeeYang Kyu ChoiKi Wha ChungPublished in: Molecular genetics & genomic medicine (2021)
We showed that the median onset ages and clinical phenotypes varied by subtypes: the most severe in the CMT1B group, and the mildest in the CMT2I group. This study also observed a clear correlation that earlier onsets cause more severe symptoms. We believe that this study will provide useful reference data for genetic and clinical information on CMT patients with MPZ mutations in Korea.