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GNE Myopathy: current update and future therapy
GNE myopathy is an autosomal recessive muscle disease due to biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities in sialic acid biosynthetic pathway. The diagnosis should be considered primarily in patients presenting with distal weakness (foot drop) in ear...
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| Publicado no: | J Neurol Neurosurg Psychiatry |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4394625/ https://ncbi.nlm.nih.gov/pubmed/25002140 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2013-307051 |
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