A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series
Abstract Background GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a progressive distal myopathy marked by rimmed vacuoles and linked to a variety of disease-causing genetic variants. These variants display considerable ethn...
Gorde:
| Egile Nagusiak: | , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2025-08-01
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| Saila: | Journal of Medical Case Reports |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1186/s13256-025-05524-4 |
| Etiketak: |
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