Atypical presentation of GNE myopathy with asymmetric hand weakness

GNE myopathy is a rare autosomal recessive muscle disease caused by mutations in GNE, the gene encoding the rate-limiting enzyme in sialic acid biosynthesis. GNE myopathy usually manifests in early adulthood with distal myopathy that progresses slowly and symmetrically, first involving distal muscle...

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Publicat a:Neuromuscul Disord
Autors principals: de Dios, John Karl L., Shrader, Joseph A., Joe, Galen O., McClean, Jeffrey C., Williams, Kayla, Evers, Robert, Malicdan, May Christine V., Ciccone, Carla, Mankodi, Ami, Huizing, Marjan, McKew, John C., Bluemke, David A., Gahl, William A., Carrillo-Carrasco, Nuria
Format: Artigo
Idioma:Inglês
Publicat: 2014
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4259851/
https://ncbi.nlm.nih.gov/pubmed/25182749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2014.07.006
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