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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Autores principales:	Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2025-04-01
Colección:	Orphanet Journal of Rare Diseases
Materias:	Distal myopathy with rimmed vacuoles GNE compound heterozygous mutation Promoter mutation Chinese GNE myopathy
Acceso en línea:	https://doi.org/10.1186/s13023-025-03696-2
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