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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Detalhes bibliográficos
Publicado no:Neuromuscul Disord
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha: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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