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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Neuromuscul Disord
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi