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...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2025-04-01
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| Seri Bilgileri: | Orphanet Journal of Rare Diseases |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s13023-025-03696-2 |
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