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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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Detalles Bibliográficos
Autores principales: Pogoryelova, Oksana, González Coraspe, José Andrés, Nikolenko, Nikoletta, Lochmüller, Hanns, Roos, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930817/
https://www.ncbi.nlm.nih.gov/pubmed/29720219
http://dx.doi.org/10.1186/s13023-018-0802-x