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GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation...

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Detalhes bibliográficos
Publicado no:Case Rep Neurol Med
Main Authors: Diniz, Gulden, Secil, Yaprak, Ceylaner, Serdar, Tokucoglu, Figen, Türe, Sabiha, Celebisoy, Mehmet, İncesu, Tülay Kurt, Akhan, Galip
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4889787/
https://ncbi.nlm.nih.gov/pubmed/27298745
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/8647645
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