Kexin Jiao, Nachuan Cheng, Xiao Huan, Jialong Zhang, Yu Ding, Xinghua Luan, LingChun Liu, Xilu Wang, Bochen Zhu, Kunzhao Du, Jiale Fan, Mingshi Gao, Xingyu Xia, Ningning Wang, Tao Wang, Jianying Xi, Sushan Luo, Jiahong Lu, Chongbo Zhao, Dongyue Yue, Wenhua Zhu
INTRODUCTION/AIMS: 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. Although over 300 GNE variants have been reported, some patients remain undiagnosed with monoallelic pathogenic variants. This study aims to analyze the entire GNE genomic region to identify novel pathogenic variants. METHODS: Patients with clinically compatible GNE myopathy and monoallelic pathogenic variants in the GNE gene were enrolled...
April 1, 2024: Muscle & Nerve