Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA). The disease is characterized by distal muscle...

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Detalles Bibliográficos
Autores principales: Chan, Yiumo Michael, Lee, Paul, Jungles, Steve, Morris, Gabrielle, Cadaoas, Jaclyn, Skrinar, Alison, Vellard, Michel, Kakkis, Emil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340369/
https://www.ncbi.nlm.nih.gov/pubmed/28267778
http://dx.doi.org/10.1371/journal.pone.0173261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340369/
https://www.ncbi.nlm.nih.gov/pubmed/28267778
http://dx.doi.org/10.1371/journal.pone.0173261

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