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GNE myopathy: from clinics and genetics to pathology and research strategies
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward understanding of GNE myopathy mechanisms and suggested therapeutic interventions t...
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| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5930817/ https://ncbi.nlm.nih.gov/pubmed/29720219 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0802-x |
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