Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

Abstract Background GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a novel autosomal recessive GNE pedigr...

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Bibliographic Details
Main Authors: Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Distal myopathy with rimmed vacuoles
GNE compound heterozygous mutation
Promoter mutation
Chinese GNE myopathy
Online Access:https://doi.org/10.1186/s13023-025-03696-2
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https://doi.org/10.1186/s13023-025-03696-2

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