Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

GNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene (GNE). This study aimed to ident...

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Detalles Bibliográficos
Autores principales: Wu, Yuan, Yuan, Lamei, Guo, Yi, Lu, Anjie, Zheng, Wen, Xu, Hongbo, Yang, Yan, Hu, Pengzhi, Gu, Shaojuan, Wang, Bingqi, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201217/
https://www.ncbi.nlm.nih.gov/pubmed/30160005
http://dx.doi.org/10.1111/jcmm.13827

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201217/
https://www.ncbi.nlm.nih.gov/pubmed/30160005
http://dx.doi.org/10.1111/jcmm.13827

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