File:Fneur-11-603003-g001 (1).jpg

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Summary

Description
English: FIGURE 1. Pedigree, sequencing electropherograms, conservation analysis, and clinical imaging features of distal hereditary motor neuropathy (dHMN) families with GARS mutation. (A) Pedigrees of family1 (GARS c. 373G>C) and family 2 (GARS c.1015G>A), and chromatograms of the mutation sites confirmed by Sanger sequencing. The GARS c.1015G>A variant is shown to be a de novo variant by comparing 22 core STR markers. Square, male; Circle, female; Black filled symbol, clinically and electromyogram confirmed affected individual; Empty symbol, clinically healthy individual; M, mutant type; W, wild-type; Arrows, probands. (B) Conservation of the residues surrounding Glu acid (E) 125 (red) and Gly (G) 339 in GARS among species. (C) Images of the upper and lower limbs of the proband in family 2(II-1).
Date
Source https://www.frontiersin.org/articles/10.3389/fneur.2020.603003/full
Author Yongzhi Xie, Zhiqiang Lin, Pukar Singh Pakhrin, Xiaobo Li, Binghao Wang1 Lei Liu, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang

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Distal hereditary motor neuropathy

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current22:17, 7 October 2023Thumbnail for version as of 22:17, 7 October 20231,073 × 378 (60 KB)commons>Ozzie10aaaaUploaded a work by Yongzhi Xie, Zhiqiang Lin, Pukar Singh Pakhrin, Xiaobo Li, Binghao Wang1 Lei Liu, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang from https://www.frontiersin.org/articles/10.3389/fneur.2020.603003/full with UploadWizard

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