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Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of l...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Academy of Rehabilitation Medicine
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496523/ https://www.ncbi.nlm.nih.gov/pubmed/26161358 http://dx.doi.org/10.5535/arm.2015.39.3.494 |