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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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| Publicado no: | J Cell Mol Med |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6201217/ https://ncbi.nlm.nih.gov/pubmed/30160005 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.13827 |
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