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...

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Detalles Bibliográficos
Autores principales: Choi, Young-Ah, Park, Sung-Hye, Yi, Youbin, Kim, Keewon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2015
Materias:
Case Report
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

Internet

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

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