Article
Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Dec 2022
Ma Zhixing, Lv He, Zhang Hongwei, Wang Hui, Li Jingcheng, Yu Meng, Zhu Ying, Huang Diandian, Meng Lingchao, Yuan Yun
Abstract excerpt
Mutations in MARS gene cause dominant Charcot-Marie-Tooth disease (CMT) 2U. The aim of this study is to investigate phenotypic heterogeneities and peripheral neuropathology of MARS-related CMT patients. We identified a heterozygous p. R199Q mutation and an already reported heterozygous p. P800T mutation of MARS gene in two unrelated families using targeted next-generation sequencing. The first pedigree comprised...
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