Article
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.
Journal of medical genetics - 23 Oct 2024
Jiao Kexin, Zhang Jialong, Li Qiuxiang, Lv Xiaoqing, Yu Yanyan, Zhu Bochen, Zhong Huahua, Yu Xu'en, Song Jia, Ke Qing, Qian Fangyuan, Luan Xinghua, Zhang Xiaojie, Chang Xueli, Wang Liang, Liu Meirong, Dong Jihong, Zou Zhangyu, Bu Bitao, Jiang Haishan, Liu LingChun, Li Yue, Yue Dongyue, Chang Xuechun, Zheng Yongsheng, Wang Ningning, Gao Mingshi, Xia Xingyu, Cheng Nachuan, Wang Tao, Luo Su-Shan, Xi Jianying, Lin Jie, Lu Jiahong, Zhao Chongbo, Yang Huan, Lin Pengfei, Hong Daojun, Zhao Zhe, Wang Zhiqiang, Zhu Wenhua
Abstract excerpt
BACKGROUND: GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the GNE gene, which is essential for the sialic acid biosynthesis pathway. OBJECTIVE: This multi-centre study aimed to delineate the clinical phenotype and GNE variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different...
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